Hereditary neurological disease

Part of

Sub-types of Hereditary neurological disease

• Parkinson disease 1,165 trials · 1,292 incl. sub-types
  6 sub-types

  • Late-onset Parkinson disease 3 trials · 143 incl. sub-types Sub-types →
  • Young-onset Parkinson disease 9 trials · 11 incl. sub-types Sub-types →
  • Parkinson disease 16 0 trials
  • Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development 0 trials
  • Parkinson disease, mitochondrial 0 trials
  • Parkinsonian-pyramidal syndrome 0 trials Sub-types →
• Anxiety 1,030 trials
• Hereditary neuromuscular disease 3 trials · 932 incl. sub-types
  22 sub-types

  • Hereditary peripheral neuropathy 6 trials · 478 incl. sub-types Sub-types →
  • Muscular dystrophy 74 trials · 288 incl. sub-types Sub-types →
  • Hereditary motor neuron disease 1 trial · 169 incl. sub-types Sub-types →
  • Hereditary spastic paraplegia 27 trials · 33 incl. sub-types Sub-types →
  • Benign paroxysmal positional vertigo 18 trials
  • Meniere disease 16 trials Sub-types →
  • RYR1-related myopathy 5 trials · 6 incl. sub-types Sub-types →
  • Congenital myasthenic syndrome 5 trials Sub-types →
  • Malignant hyperthermia of anesthesia 5 trials
  • SCN4A-related channelopathy 1 trial · 2 incl. sub-types Sub-types →
  • Early-onset myopathy with fatal cardiomyopathy 1 trial
  • Andersen-Tawil syndrome 0 trials
  • CNGB3-related retinopathy 0 trials Sub-types →
  • KY-related neuromyopathy 0 trials Sub-types →
  • Morimoto-Ryu-Malicdan neuromuscular syndrome 0 trials
  • X-linked recessive mitochondrial myopathy 0 trials
  • Myofibrillar myopathy 1 0 trials
  • Myotonia congenita, autosomal dominant 0 trials
  • Myotonia congenita, autosomal recessive 0 trials
  • Neuromuscular disorder, congenital, with dysmorphic facies 0 trials
  • Periodic paralysis with later-onset distal motor neuropathy 0 trials
  • Vertigo, benign recurrent, 1 0 trials
• Inherited neurodegenerative disorder 10 trials · 807 incl. sub-types
  82 sub-types

  • Frontotemporal dementia 132 trials · 178 incl. sub-types Sub-types →
  • Hereditary motor neuron disease 1 trial · 169 incl. sub-types Sub-types →
  • Hereditary cerebellar ataxia 0 trials · 116 incl. sub-types Sub-types →
  • Huntington disease and related disorders 0 trials · 91 incl. sub-types Sub-types →
  • Progressive supranuclear palsy 73 trials · 77 incl. sub-types Sub-types →
  • Leukodystrophy 6 trials · 72 incl. sub-types Sub-types →
  • Familial Alzheimer disease 13 trials · 55 incl. sub-types Sub-types →
  • Hereditary spastic paraplegia 27 trials · 33 incl. sub-types Sub-types →
  • Hereditary optic atrophy 6 trials · 23 incl. sub-types Sub-types →
  • Neuronal ceroid lipofuscinosis 6 trials · 23 incl. sub-types Sub-types →
  • GM2 gangliosidosis 14 trials · 19 incl. sub-types Sub-types →
  • Kennedy disease 19 trials
  • Corticobasal syndrome 19 trials
  • Frontotemporal dementia with motor neuron disease 13 trials · 19 incl. sub-types Sub-types →
  • Posterior cortical atrophy 11 trials
  • Chediak-Higashi syndrome 9 trials
  • Neurodegeneration with brain iron accumulation 1 trial · 8 incl. sub-types Sub-types →
  • APP-related brain and vascular amyloidosis 0 trials · 5 incl. sub-types Sub-types →
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 0 trials · 5 incl. sub-types Sub-types →
  • Inherited Creutzfeldt-Jakob disease 5 trials
  • TUBB4A-related neurologic disorder 4 trials Sub-types →
  • Fatal familial insomnia 4 trials
  • Mitochondrial DNA depletion syndrome 4a 3 trials
  • Alzheimer disease 17 1 trial
  • Alzheimer disease 18 1 trial
  • Ataxia-telangiectasia-like disorder 1 trial Sub-types →
  • Developmental and epileptic encephalopathy, 35 1 trial
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 trial
  • Neurodegenerative syndrome due to cerebral folate transport deficiency 1 trial
  • Neuronal intranuclear inclusion disease 1 trial
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 trial
  • DCTN1-related neurodegeneration 0 trials Sub-types →
  • Huntington disease-like 1 0 trials
  • Huntington disease-like 2 0 trials
  • ITM2B amyloidosis 0 trials Sub-types →
  • PEHO syndrome 0 trials
  • PRKAR1B-related neurodegenerative dementia with intermediate filaments 0 trials
  • X-linked neurodegenerative syndrome, Bertini type 0 trials
  • X-linked neurodegenerative syndrome, Hamel type 0 trials
  • Agenesis of the corpus callosum with peripheral neuropathy 0 trials
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex 0 trials
  • Angioid streaks of choroid 0 trials
  • Attenuated Chédiak-Higashi syndrome 0 trials
  • Autosomal recessive cerebral atrophy 0 trials
  • Boylan dew greco syndrome 0 trials
  • Cerebellar ataxia-hypogonadism syndrome 0 trials Sub-types →
  • Cerebral sclerosis similar to Pelizaeus-Merzbacher disease 0 trials
  • Combined oxidative phosphorylation deficiency 29 0 trials
  • Deafness dystonia syndrome 0 trials
  • Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 trials
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
  • Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy 0 trials
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 trials
  • Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 0 trials
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 0 trials Sub-types →
  • Facial onset sensory and motor neuronopathy 0 trials
  • Fatal post-viral neurodegenerative disorder 0 trials
  • Ferro-cerebro-cutaneous syndrome 0 trials
  • Hereditary sensory neuropathy-deafness-dementia syndrome 0 trials
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 trials Sub-types →
  • Infantile cerebellar-retinal degeneration 0 trials
  • Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 0 trials
  • Microphthalmia-brain atrophy syndrome 0 trials
  • Myoclonic cerebellar dyssynergia 0 trials
  • Neurodegeneration and seizures due to copper transport defect 0 trials
  • Neurodegeneration with ataxia and late-onset optic atrophy 0 trials
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 trials
  • Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities 0 trials
  • Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 0 trials
  • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 0 trials
  • Neurodegeneration, childhood-onset, with cerebellar atrophy 0 trials
  • Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 trials
  • Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 0 trials
  • Neurodegeneration, childhood-onset, with progressive microcephaly 0 trials
  • Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 0 trials
  • Neurodegeneration, infantile-onset, biotin-responsive 0 trials
  • Neurodegenerative disorder with cerebellar and caudate atrophy 0 trials
  • Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment 0 trials
  • Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 0 trials
  • Radiation sensitivity/chromosome instability syndrome, autosomal dominant 0 trials
  • Severe neurodegenerative syndrome with lipodystrophy 0 trials
  • Striatonigral degeneration 0 trials Sub-types →
• Inherited retinal dystrophy 41 trials · 510 incl. sub-types
  105 sub-types

  • Age-related macular degeneration 190 trials · 334 incl. sub-types Sub-types →
  • Retinitis pigmentosa 84 trials · 89 incl. sub-types Sub-types →
  • Hereditary macular dystrophy 3 trials · 70 incl. sub-types Sub-types →
  • Cone-rod dystrophy 17 trials · 21 incl. sub-types Sub-types →
  • Leber congenital amaurosis 10 trials · 12 incl. sub-types Sub-types →
  • ABCA4-related retinopathy 7 trials · 11 incl. sub-types Sub-types →
  • BEST1-related dominant retinopathy 1 trial · 7 incl. sub-types Sub-types →
  • RHO-related retinopathy 0 trials · 7 incl. sub-types Sub-types →
  • RPE65-related recessive retinopathy 5 trials · 7 incl. sub-types Sub-types →
  • RPGR-related retinopathy 0 trials · 7 incl. sub-types Sub-types →
  • Choroideremia 6 trials Sub-types →
  • PRPF31-related retinopathy 1 trial · 4 incl. sub-types Sub-types →
  • X-linked retinoschisis 4 trials
  • Ornithine aminotransferase deficiency 4 trials
  • ELOVL4-related maculopathy 0 trials · 3 incl. sub-types Sub-types →
  • RLBP1-related retinopathy 2 trials · 3 incl. sub-types Sub-types →
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 3 trials
  • BEST1-related recessive retinopathy 0 trials · 2 incl. sub-types Sub-types →
  • EYS-related retinopathy 1 trial · 2 incl. sub-types Sub-types →
  • LCA5-related retinopathy 1 trial · 2 incl. sub-types Sub-types →
  • PRPH2-related retinopathy 1 trial · 2 incl. sub-types Sub-types →
  • Revesz syndrome 2 trials
  • Late-onset retinal degeneration 2 trials
  • AIPL1-related retinopathy 1 trial Sub-types →
  • ATF6-related retinopathy 0 trials · 1 incl. sub-types Sub-types →
  • CNGB1-related retinopathy 0 trials · 1 incl. sub-types Sub-types →
  • FLVCR1-related retinopathy with or without ataxia 0 trials · 1 incl. sub-types Sub-types →
  • GUCY2D retinopathy 0 trials · 1 incl. sub-types Sub-types →
  • RDH5-related retinopathy 0 trials · 1 incl. sub-types Sub-types →
  • Retinoschisis of fovea 1 trial
  • ADAM9-related retinopathy 0 trials Sub-types →
  • CACNA1F-related retinopathy 0 trials Sub-types →
  • CACNA2D4-related retinopathy 0 trials Sub-types →
  • CDHR1-related retinopathy 0 trials Sub-types →
  • CERKL-related retinopathy 0 trials Sub-types →
  • CNGA1-related retinopathy 0 trials Sub-types →
  • CNGA3-related retinopathy 0 trials Sub-types →
  • CRX-related retinopathy 0 trials Sub-types →
  • GNAT2-related retinopathy 0 trials Sub-types →
  • GPR179-related retinopathy 0 trials Sub-types →
  • GRM6-related retinopathy 0 trials Sub-types →
  • GUCA1A-related retinopathy 0 trials Sub-types →
  • HGSNAT-related retinopathy 0 trials Sub-types →
  • IDH3B-related retinopathy 0 trials Sub-types →
  • IMPDH1-related retinopathy 0 trials Sub-types →
  • IMPG1-related dominant retinopathy 0 trials Sub-types →
  • IMPG1-related recessive retinopathy 0 trials Sub-types →
  • IMPG2-related dominant retinopathy 0 trials Sub-types →
  • IMPG2-related recessive retinopathy 0 trials Sub-types →
  • KCNV2-related retinopathy 0 trials Sub-types →
  • KIZ-related retinopathy 0 trials Sub-types →
  • LRIT3-related retinopathy 0 trials Sub-types →
  • MAK-related retinopathy 0 trials Sub-types →
  • MERTK-related retinopathy 0 trials Sub-types →
  • MRCS syndrome 0 trials
  • NMNAT1-related retinopathy 0 trials Sub-types →
  • NYX-related retinopathy 0 trials Sub-types →
  • Oguchi disease 0 trials Sub-types →
  • PCARE-related retinopathy 0 trials Sub-types →
  • PDE6A-related retinopathy 0 trials Sub-types →
  • PDE6C-related retinopathy 0 trials Sub-types →
  • PDE6G-related retinopathy 0 trials Sub-types →
  • PROM1-related retinopathy 0 trials Sub-types →
  • PRPF8-related retinopathy 0 trials Sub-types →
  • RAB28-related retinopathy 0 trials Sub-types →
  • RD3-related retinopathy 0 trials Sub-types →
  • RDH12-related dominant retinopathy 0 trials
  • RDH12-related recessive retinopathy 0 trials Sub-types →
  • REEP6-related retinopathy 0 trials Sub-types →
  • RP1-related dominant retinopathy 0 trials
  • RP1-related recessive retinopathy 0 trials
  • RP2-related retinopathy 0 trials Sub-types →
  • RPE65-related dominant retinopathy 0 trials Sub-types →
  • SNRNP200-related dominant retinopathy 0 trials Sub-types →
  • SPATA7-related retinopathy 0 trials Sub-types →
  • Sorsby fundus dystrophy 0 trials Sub-types →
  • TOPORS-related retinopathy 0 trials Sub-types →
  • TRPM1-related retinopathy 0 trials Sub-types →
  • TTLL5-related retinopathy 0 trials Sub-types →
  • X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 0 trials
  • X-linked retinal dysplasia 0 trials
  • Aceruloplasminemia 0 trials
  • Amaurosis-hypertrichosis syndrome 0 trials
  • Choroideremia-deafness-obesity syndrome 0 trials
  • Dystrophies primarily involving the retinal pigment epithelium 0 trials
  • Ectopia lentis-chorioretinal dystrophy-myopia syndrome 0 trials
  • Familial benign flecked retina 0 trials
  • Foveal hypoplasia-presenile cataract syndrome 0 trials
  • Helicoid peripapillary chorioretinal degeneration 0 trials
  • Infantile cerebellar-retinal degeneration 0 trials
  • Macular degeneration, early-onset 0 trials
  • Microcephaly and chorioretinopathy 1 0 trials
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
  • Microcornea-myopic chorioretinal atrophy 0 trials
  • Oligocone trichromacy 0 trials
  • Pigmented paravenous retinochoroidal atrophy 0 trials
  • Progressive bifocal chorioretinal atrophy 0 trials
  • Progressive retinal dystrophy due to retinol transport defect 0 trials
  • Retinal degeneration-nanophthalmos-glaucoma syndrome 0 trials
  • Retinal dystrophies primarily involving Bruch's membrane 0 trials Sub-types →
  • Retinal dystrophy in systemic or cerebroretinal lipidoses 0 trials
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 0 trials
  • Retinal dystrophy, X-linked, Gardner-Hardcastle type 0 trials
  • Retinoschisis, autosomal dominant 0 trials
  • Vitreoretinal dystrophy 0 trials
• Mendelian neurodevelopmental disorder 0 trials · 207 incl. sub-types
  275 sub-types

  • Genetic developmental and epileptic encephalopathy 2 trials · 83 incl. sub-types Sub-types →
  • Prader-Willi syndrome 31 trials Sub-types →
  • Rett syndrome 31 trials
  • Intellectual disability, autosomal dominant 0 trials · 23 incl. sub-types Sub-types →
  • X-linked intellectual disability 1 trial · 15 incl. sub-types Sub-types →
  • CACNA1A-related complex neurodevelopmental disorder 1 trial · 9 incl. sub-types Sub-types →
  • Autosomal recessive primary microcephaly 0 trials · 8 incl. sub-types Sub-types →
  • Smith-Magenis syndrome 5 trials
  • Rubinstein-Taybi syndrome 3 trials Sub-types →
  • Alternating hemiplegia of childhood 3 trials Sub-types →
  • FOXG1 disorder 2 trials
  • GRIN-related complex neurodevelopmental disorder 2 trials Sub-types →
  • Neurodevelopmental disorder with involuntary movements 2 trials
  • CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy 1 trial
  • Dyneinopathy 0 trials · 1 incl. sub-types Sub-types →
  • Intellectual disability, autosomal recessive 0 trials · 1 incl. sub-types Sub-types →
  • Microcephalic osteodysplastic primordial dwarfism type I 1 trial
  • Microcephalic osteodysplastic primordial dwarfism type II 1 trial
  • Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 1 trial
  • Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 trial
  • Orofaciodigital syndrome I 1 trial
  • AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss 0 trials
  • AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 trials
  • ARF3-related neurodevelopmental disorder 0 trials
  • ATXN7L3-related developmental delay, hypotonia and facial dysmorphism 0 trials
  • Alzahrani-Kuwahara syndrome 0 trials
  • Amish lethal microcephaly 0 trials
  • Au-Kline syndrome 0 trials
  • Brunet-Wagner neurodevelopmental syndrome 0 trials
  • CBX1-related neurodevelopmental disorder 0 trials
  • CK syndrome 0 trials
  • CNOT9-related developmental disorder with seizures 0 trials
  • CTR9-related neurodevelopmental disorder 0 trials
  • Chilton-Okur-Chung neurodevelopmental syndrome 0 trials
  • DDX17-related neurodevelopmental disorder 0 trials
  • DEAF1-associated neurodevelopmental disorder 0 trials Sub-types →
  • DIP2C-related developmental disorder with speech delay 0 trials
  • Delpire-McNeill syndrome 0 trials
  • Dentici-Novelli neurodevelopmental syndrome 0 trials
  • Dursun-Ozgul neurodevelopmental syndrome 0 trials
  • Dworschak-Punetha neurodevelopmental syndrome 0 trials
  • EPB41L3-related developmental disorder with delayed myelination and seizures 0 trials
  • El Hayek-Chahrour neurodevelopmental disorder 0 trials
  • FAT4-related neurodevelopmental disorder 0 trials
  • FEZF2-related neurodevelopmental disorder 0 trials
  • Ferguson-Bonni neurodevelopmental syndrome 0 trials
  • GABRA4-related neurodevelopmental disorder with seizures 0 trials
  • GABRD-related neurodevelopmental disorder with epilepsy 0 trials
  • HDAC3-related neurodevelopmental disorder 0 trials
  • HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome 0 trials
  • HNRNPC-related neurodevelopmental disorder 0 trials Sub-types →
  • Hao-Fountain syndrome due to USP7 mutation 0 trials
  • Harel-Tora neurodevelopmental syndrome 0 trials
  • Harel-Yoon syndrome 0 trials
  • Hiatt-Neu-Cooper neurodevelopmental syndrome 0 trials
  • Houge-Janssens syndrome 3 0 trials
  • Jeffries-Lakhani neurodevelopmental syndrome 0 trials
  • KCND2-related neurodevelopmental disorder with or without seizures 0 trials
  • KCNH1 associated disorder 0 trials Sub-types →
  • KCNK3-related developmental delay with sleep apnea 0 trials
  • KDM2B-related neurodevelopmental disorder 0 trials
  • Karayol-Borroto-Haghshenas neurodevelopmental syndrome 0 trials
  • Kariminejad neurodevelopmental syndrome 0 trials
  • Li-Takada-Miyake syndrome 0 trials
  • MYCBP2-related developmental delay with corpus callosum defects 0 trials
  • MYH10-related neurodevelopmental disorder with congenital anomalies 0 trials
  • Marbach-Schaaf neurodevelopmental syndrome 0 trials
  • NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability 0 trials
  • Nil-Deshwar neurodevelopmental syndrome 0 trials
  • Okur-Chung neurodevelopmental syndrome 0 trials
  • PAX5-related B lymphopenia and autism spectrum disorder 0 trials
  • PIP5K1C-related neurodevelopmental disorder 0 trials
  • PPFIA3-related neurodevelopmental disorder 0 trials
  • PPP2R1A-related intellectual disability 0 trials
  • PRPF19-related neurodevelopmental disorder 0 trials
  • Pitt-Hopkins-like syndrome 2 0 trials
  • Poirier-Bienvenu neurodevelopmental syndrome 0 trials
  • Popov-Chang syndrome 0 trials
  • RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities 0 trials
  • RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities 0 trials
  • RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity 0 trials
  • Ramond-Elliott neurodevelopmental syndrome 0 trials
  • SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth 0 trials Sub-types →
  • SOX11-related complex neurodevelopmental disorder with or without congenital anomalies 0 trials
  • SYNCRIP-related neurodevelopmental disorder 0 trials
  • Stankiewicz-Isidor syndrome 0 trials
  • TRA2B-related neurodevelopmental disorder 0 trials
  • WDR5-related neurodevelopmental disorder 0 trials
  • Wieacker-Wolff syndrome 0 trials
  • X-linked complex neurodevelopmental disorder 0 trials Sub-types →
  • Aplasia cutis-enamel dysplasia syndrome 0 trials
  • Autosomal dominant primary microcephaly 0 trials Sub-types →
  • Cerebellar atrophy, visual impairment, and psychomotor retardation; 0 trials
  • Cerebral palsy, spastic quadriplegic, 2 0 trials
  • Cerebral palsy, spastic quadriplegic, 3 0 trials
  • Complex cortical dysplasia with other brain malformations 5 0 trials
  • Developmental delay and seizures with or without movement abnormalities 0 trials
  • Developmental delay with autism spectrum disorder and gait instability 0 trials
  • Developmental delay with variable intellectual impairment and behavioral abnormalities 0 trials
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 trials
  • Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 trials
  • Intellectual developmental disorder with polymicrogyria and seizures 0 trials
  • Intellectual disability, autosomal dominant 29 0 trials
  • Microcephalic osteodysplastic primordial dwarfism, type 3 0 trials
  • Microcephaly and chorioretinopathy 0 trials Sub-types →
  • Microcephaly with lissencephaly and/or hydranencephaly 0 trials Sub-types →
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
  • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia 0 trials
  • Neurocardiorenal malformation syndrome 0 trials
  • Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 trials
  • Neurodevelopmental disorder plus optic atrophy 0 trials
  • Neurodevelopmental disorder with absent language and variable seizures 0 trials
  • Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima 0 trials
  • Neurodevelopmental disorder with alopecia and brain abnormalities 0 trials
  • Neurodevelopmental disorder with ataxia and brain abnormalities 0 trials
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 0 trials
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0 trials
  • Neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia 0 trials
  • Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 0 trials
  • Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities 0 trials
  • Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 0 trials
  • Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 0 trials
  • Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0 trials
  • Neurodevelopmental disorder with central and peripheral motor dysfunction 0 trials
  • Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 trials Sub-types →
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 trials
  • Neurodevelopmental disorder with cerebellar hypoplasia and spasticity 0 trials
  • Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 0 trials
  • Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 0 trials
  • Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 trials
  • Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities 0 trials
  • Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 0 trials
  • Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0 trials
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 trials
  • Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 trials
  • Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia 0 trials
  • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities 0 trials
  • Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 trials
  • Neurodevelopmental disorder with dysmorphic facies and variable seizures 0 trials
  • Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities 0 trials
  • Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures 0 trials
  • Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 trials
  • Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 trials
  • Neurodevelopmental disorder with dystonia and seizures 0 trials
  • Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with epilepsy and brain atrophy 0 trials
  • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0 trials
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 trials
  • Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0 trials
  • Neurodevelopmental disorder with eye movement abnormalities and ataxia 0 trials
  • Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 0 trials
  • Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked 0 trials
  • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech 0 trials
  • Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities 0 trials
  • Neurodevelopmental disorder with hearing loss and spasticity 0 trials
  • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 0 trials
  • Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities 0 trials
  • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 0 trials
  • Neurodevelopmental disorder with hypotonia and brain abnormalities 0 trials
  • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 0 trials
  • Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities 0 trials
  • Neurodevelopmental disorder with hypotonia and dysmorphic facies 0 trials
  • Neurodevelopmental disorder with hypotonia and gross motor and speech delay 0 trials
  • Neurodevelopmental disorder with hypotonia and seizures 0 trials
  • Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures 0 trials
  • Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 0 trials
  • Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 trials
  • Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities 0 trials
  • Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech 0 trials
  • Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 0 trials
  • Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities 0 trials
  • Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 trials
  • Neurodevelopmental disorder with hypotonia, microcephaly, and seizures 0 trials
  • Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0 trials
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 trials
  • Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia 0 trials
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 trials
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0 trials
  • Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0 trials
  • Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies 0 trials
  • Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 trials
  • Neurodevelopmental disorder with infantile epileptic spasms 0 trials
  • Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies 0 trials
  • Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity 0 trials
  • Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0 trials
  • Neurodevelopmental disorder with language delay and seizures 0 trials
  • Neurodevelopmental disorder with language delay and variable cognitive abnormalities 0 trials
  • Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder 0 trials
  • Neurodevelopmental disorder with microcephaly and dysmorphic facies 0 trials
  • Neurodevelopmental disorder with microcephaly and movement abnormalities 0 trials
  • Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 0 trials
  • Neurodevelopmental disorder with microcephaly and structural brain anomalies 0 trials
  • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 0 trials
  • Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 trials
  • Neurodevelopmental disorder with microcephaly, ataxia, and seizures 0 trials
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0 trials
  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment 0 trials
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 0 trials
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0 trials
  • Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 0 trials
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 trials
  • Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures 0 trials
  • Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 0 trials
  • Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 trials
  • Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures 0 trials
  • Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy 0 trials
  • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 trials
  • Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis 0 trials
  • Neurodevelopmental disorder with microcephaly, short stature, and speech delay 0 trials
  • Neurodevelopmental disorder with midbrain and hindbrain malformations 0 trials
  • Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism 0 trials
  • Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 0 trials
  • Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction 0 trials
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 trials
  • Neurodevelopmental disorder with neuromuscular and skeletal abnormalities 0 trials
  • Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 trials
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 trials
  • Neurodevelopmental disorder with or without autism or seizures 0 trials
  • Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 0 trials
  • Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 trials
  • Neurodevelopmental disorder with or without seizures and gait abnormalities 0 trials
  • Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with poor growth and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with poor growth and skeletal anomalies 0 trials
  • Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies 0 trials
  • Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities 0 trials
  • Neurodevelopmental disorder with poor language and loss of hand skills 0 trials
  • Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 trials
  • Neurodevelopmental disorder with progressive movement abnormalities 0 trials
  • Neurodevelopmental disorder with progressive spasticity and brain abnormalities 0 trials
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 trials
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 trials
  • Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 0 trials
  • Neurodevelopmental disorder with seizures and brain atrophy 0 trials
  • Neurodevelopmental disorder with seizures and gingival overgrowth 0 trials
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 trials
  • Neurodevelopmental disorder with seizures and speech and walking impairment 0 trials
  • Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0 trials
  • Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity 0 trials
  • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities 0 trials
  • Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum 0 trials
  • Neurodevelopmental disorder with severe motor impairment and absent language 0 trials
  • Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 0 trials
  • Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 0 trials
  • Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 0 trials
  • Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 0 trials
  • Neurodevelopmental disorder with spasticity and poor growth 0 trials
  • Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 0 trials
  • Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities 0 trials
  • Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter 0 trials
  • Neurodevelopmental disorder with speech delay and behavioral abnormalities 0 trials
  • Neurodevelopmental disorder with speech delay and variable ocular anomalies 0 trials
  • Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures 0 trials
  • Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 trials
  • Neurodevelopmental disorder with speech impairment and with or without seizures 0 trials
  • Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination 0 trials
  • Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities 0 trials
  • Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0 trials
  • Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language 0 trials
  • Neurodevelopmental disorder with variable familial hypercholanemia 0 trials
  • Neurodevelopmental disorder with visual defects and brain anomalies 0 trials
  • Neurodevelopmental disorder with white matter abnormalities and gait disturbance 0 trials
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 0 trials
  • Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0 trials
  • Otofacial neurodevelopmental syndrome 0 trials
  • Parenti-mignot neurodevelopmental syndrome 0 trials
  • Squalene synthase deficiency 0 trials
• Obsessive-compulsive disorder 196 trials
• Hereditary ataxia 2 trials · 119 incl. sub-types
  20 sub-types

  • Hereditary cerebellar ataxia 0 trials · 116 incl. sub-types Sub-types →
  • Spastic ataxia 1 trial · 2 incl. sub-types Sub-types →
  • EAST syndrome 1 trial
  • Hereditary episodic ataxia 0 trials · 1 incl. sub-types Sub-types →
  • Hereditary spastic paraplegia 7 1 trial
  • Richards-Rundle syndrome 0 trials
  • Ataxia with fasciculations 0 trials
  • Ataxia-hypogonadism-choroidal dystrophy syndrome 0 trials
  • Ataxia-tapetoretinal degeneration syndrome 0 trials
  • Autosomal dominant sensory ataxia 1 0 trials
  • Autosomal recessive ataxia due to PEX16 deficiency 0 trials
  • Autosomal recessive ataxia due to PEX2 deficiency 0 trials
  • Cataract-ataxia-deafness syndrome 0 trials
  • Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 0 trials
  • Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 0 trials
  • Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 0 trials
  • Myoclonus-cerebellar ataxia-deafness syndrome 0 trials
  • Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome 0 trials
  • Spinocerebellar ataxia-dysmorphism syndrome 0 trials
  • Tremor-ataxia-central hypomyelination syndrome 0 trials
• Essential tremor 102 trials · 104 incl. sub-types
  6 sub-types

  • Tremor, hereditary essential, 1 2 trials
  • Tremor, hereditary essential, 2 0 trials
  • Tremor, hereditary essential, 3 0 trials
  • Tremor, hereditary essential, 4 0 trials
  • Tremor, hereditary essential, 5 0 trials
  • Tremor, hereditary essential, 6 0 trials
• Neurofibromatosis 19 trials · 94 incl. sub-types
  5 sub-types

  • Neurofibromatosis type 1 73 trials Sub-types →
  • NF2-related schwannomatosis 21 trials
  • Schwannomatosis 3 trials Sub-types →
  • Neurofibromatosis-Noonan syndrome 2 trials Sub-types →
  • Neurofibromatosis, type IV, of Riccardi 0 trials
• Myalgic encephalomeyelitis/chronic fatigue syndrome 73 trials
• Inherited orthostatic hypotension 0 trials · 71 incl. sub-types
  3 sub-types

  • Postural orthostatic tachycardia syndrome 71 trials
  • Orthostatic hypotension 1 0 trials
  • Orthostatic hypotension 2 0 trials
• Nonsyndromic genetic hearing loss 4 trials · 67 incl. sub-types
  6 sub-types

  • Prelingual non-syndromic genetic hearing loss 5 trials · 37 incl. sub-types Sub-types →
  • X-linked nonsyndromic hearing loss 0 trials · 32 incl. sub-types Sub-types →
  • Hearing loss, autosomal recessive 1 trial · 17 incl. sub-types Sub-types →
  • Postlingual non-syndromic genetic hearing loss 6 trials · 10 incl. sub-types Sub-types →
  • Autosomal dominant nonsyndromic hearing loss 1 trial · 2 incl. sub-types Sub-types →
  • Nonsyndromic deafness, Y-linked 0 trials Sub-types →
• Inherited vitreoretinopathy 0 trials · 58 incl. sub-types
  5 sub-types

  • Vitreoretinal degeneration 0 trials · 45 incl. sub-types Sub-types →
  • Congenital vitreoretinal dysplasia 0 trials · 9 incl. sub-types Sub-types →
  • Vitreous detachment 5 trials
  • NDP-related vitreoretinopathy 0 trials Sub-types →
  • TSPAN12-related vitreoretinopathy 0 trials Sub-types →
• Paraganglioma 53 trials · 57 incl. sub-types
  12 sub-types

  • Sympathetic paraganglioma 0 trials · 16 incl. sub-types Sub-types →
  • Head and neck paraganglioma 1 trial Sub-types →
  • Non-secreting paraganglioma 0 trials Sub-types →
  • Parasympathetic paraganglioma 0 trials Sub-types →
  • Pheochromocytoma/paraganglioma syndrome 1 0 trials
  • Pheochromocytoma/paraganglioma syndrome 2 0 trials
  • Pheochromocytoma/paraganglioma syndrome 3 0 trials
  • Pheochromocytoma/paraganglioma syndrome 4 0 trials
  • Pheochromocytoma/paraganglioma syndrome 5 0 trials
  • Pheochromocytoma/paraganglioma syndrome 6 0 trials
  • Pheochromocytoma/paraganglioma syndrome 7 0 trials
  • Sporadic pheochromocytoma/secreting paraganglioma 0 trials Sub-types →
• Retinal detachment 28 trials · 52 incl. sub-types
  2 sub-types

  • Rhegmatogenous retinal detachment 23 trials Sub-types →
  • Retinal perforation 18 trials
• Tuberous sclerosis 41 trials · 44 incl. sub-types
  2 sub-types

  • Tuberous sclerosis 1 33 trials
  • Tuberous sclerosis 2 2 trials
• Endogenous depression 42 trials
• Specific phobia 22 trials · 42 incl. sub-types
  3 sub-types

  • Nosophobia 2 trials · 16 incl. sub-types Sub-types →
  • Animal phobia 5 trials
  • Flying phobia 1 trial
• Combined pituitary hormone deficiencies, genetic form 1 trial · 42 incl. sub-types
  9 sub-types

  • Isolated congenital growth hormone deficiency 38 trials Sub-types →
  • Panhypopituitarism 2 trials Sub-types →
  • Congenital isolated adrenocorticotropic hormone deficiency 1 trial
  • Pituitary hormone deficiency, combined, 1 1 trial
  • Septooptic dysplasia 1 trial Sub-types →
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities 0 trials
  • Pituitary hormone deficiency, combined or isolated, 8 0 trials
  • Pituitary hormone deficiency, combined, 6 0 trials
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 trials
• Tourette syndrome 41 trials
• Familial partial epilepsy 0 trials · 39 incl. sub-types
  7 sub-types

  • Temporal lobe epilepsy 31 trials Sub-types →
  • Mesial temporal lobe epilepsy with hippocampal sclerosis 10 trials
  • Self-limited epilepsy with centrotemporal spikes 3 trials Sub-types →
  • Generalized epilepsy-paroxysmal dyskinesia syndrome 1 trial
  • Autosomal dominant epilepsy with auditory features 0 trials
  • Familial focal epilepsy with variable foci 0 trials Sub-types →
  • Familial sleep-related hypermotor epilepsy 0 trials Sub-types →
• Cerebral lipidosis with dementia 0 trials · 38 incl. sub-types
  8 sub-types

  • Sandhoff disease 13 trials Sub-types →
  • Tay-Sachs disease 13 trials Sub-types →
  • Gaucher disease type I 12 trials
  • Cerebrotendinous xanthomatosis 6 trials
  • Juvenile neuronal ceroid lipofuscinosis 6 trials Sub-types →
  • Adult Krabbe disease 0 trials
  • Adult neuronal ceroid lipofuscinosis 0 trials Sub-types →
  • Infantile neuronal ceroid lipofuscinosis 0 trials Sub-types →
• Inherited dystonia 0 trials · 36 incl. sub-types
  24 sub-types

  • Combined dystonia 1 trial · 12 incl. sub-types Sub-types →
  • Isolated dystonia 4 trials · 11 incl. sub-types Sub-types →
  • Lymphatic malformation 5 8 trials
  • Dystonia, focal, task-specific 4 trials
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency 1 trial
  • Dystonia 28, childhood-onset 1 trial
  • Torsion dystonia 7 1 trial
  • Woodhouse-Sakati syndrome 0 trials
  • Ataxia - oculomotor apraxia type 4 0 trials
  • Autosomal dominant dopa-responsive dystonia 0 trials Sub-types →
  • Developmental malformations-deafness-dystonia syndrome 0 trials
  • Dystonia 22, adult-onset 0 trials
  • Dystonia 22, juvenile-onset 0 trials
  • Dystonia 30 0 trials
  • Dystonia 31 0 trials
  • Dystonia 32 0 trials
  • Dystonia 33 0 trials
  • Dystonia 34, myoclonic 0 trials
  • Dystonia 35, childhood-onset 0 trials
  • Dystonia 37, early-onset, with striatal lesions 0 trials
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
  • Familial idiopathic torsion dystonia 0 trials
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 0 trials
  • Striatonigral degeneration, childhood-onset 0 trials
• Normal pressure hydrocephalus 35 trials
• Mismatch repair cancer syndrome 1 34 trials
• Hereditary generalized epilepsy 0 trials · 33 incl. sub-types
  2 sub-types

  • Idiopathic generalized epilepsy 11 trials · 29 incl. sub-types Sub-types →
  • Generalized epilepsy with febrile seizures plus 0 trials · 4 incl. sub-types Sub-types →
• X-linked deafness 0 trials · 32 incl. sub-types
  2 sub-types

  • X-linked nonsyndromic hearing loss 0 trials · 32 incl. sub-types Sub-types →
  • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome 0 trials
• Familial isolated pituitary adenoma 1 trial · 31 incl. sub-types
  6 sub-types

  • Cushing disease due to pituitary adenoma 23 trials
  • Prolactin-producing pituitary gland adenoma 11 trials
  • Growth hormone secreting pituitary adenoma 1 1 trial
  • Pituitary adenoma 3, multiple types 0 trials
  • Pituitary adenoma 5, multiple types 0 trials
  • Pituitary adenoma, growth hormone-secreting, 2 0 trials
• Von Hippel-Lindau disease 27 trials
• Specific language impairment 26 trials
  5 sub-types

  • Specific language impairment 1 0 trials
  • Specific language impairment 2 0 trials
  • Specific language impairment 3 0 trials
  • Specific language impairment 4 0 trials
  • Specific language impairment 5 0 trials
• Stutter disorder 22 trials
  4 sub-types

  • Stuttering, familial persistent, 1 0 trials
  • Stuttering, familial persistent, 2 0 trials
  • Stuttering, familial persistent, 3 0 trials
  • Stuttering, familial persistent, 4 0 trials
• Moyamoya disease 20 trials
  8 sub-types

  • Moyamoya disease 2 0 trials
  • Moyamoya disease 5 0 trials
  • Moyamoya disease 8 0 trials
  • Moyamoya disease with early-onset achalasia 0 trials
  • Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 0 trials
  • Moyamoya disease 1 0 trials
  • Moyamoya disease 3 0 trials
  • Moyamoya disease 7 0 trials
• Angelman syndrome 19 trials
  4 sub-types

  • Angelman syndrome due to a point mutation 0 trials
  • Angelman syndrome due to imprinting defect in 15q11-q13 0 trials
  • Angelman syndrome due to maternal 15q11q13 deletion 0 trials
  • Angelman syndrome due to paternal uniparental disomy of chromosome 15 0 trials
• Cerebral amyloid angiopathy 16 trials · 17 incl. sub-types
  4 sub-types

  • ACys amyloidosis 1 trial
  • Cerebral amyloid angiopathy, APP-related 0 trials · 1 incl. sub-types Sub-types →
  • ABri amyloidosis 0 trials
  • ADan amyloidosis 0 trials
• Li-Fraumeni syndrome 16 trials
• Childhood apraxia of speech 16 trials
• Intracranial berry aneurysm 12 trials
  12 sub-types

  • Aneurysm, intracranial berry type 1 0 trials
  • Aneurysm, intracranial berry, 10 0 trials
  • Aneurysm, intracranial berry, 11 0 trials
  • Aneurysm, intracranial berry, 12 0 trials
  • Aneurysm, intracranial berry, 2 0 trials
  • Aneurysm, intracranial berry, 3 0 trials
  • Aneurysm, intracranial berry, 4 0 trials
  • Aneurysm, intracranial berry, 5 0 trials
  • Aneurysm, intracranial berry, 6 0 trials
  • Aneurysm, intracranial berry, 7 0 trials
  • Aneurysm, intracranial berry, 8 0 trials
  • Aneurysm, intracranial berry, 9 0 trials
• Progressive myoclonus epilepsy 5 trials · 12 incl. sub-types
  15 sub-types

  • MERRF syndrome 5 trials
  • Lafora disease 1 trial Sub-types →
  • Unverricht-Lundborg syndrome 1 trial
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 trial
  • Action myoclonus-renal failure syndrome 0 trials
  • Early-onset Lafora body disease 0 trials
  • Epilepsy, progressive myoclonic, 11 0 trials
  • Epilepsy, progressive myoclonic, 12 0 trials
  • Epilepsy, progressive myoclonic, 1B 0 trials
  • Familial encephalopathy with neuroserpin inclusion bodies 0 trials
  • Progressive myoclonic epilepsy type 3 0 trials
  • Progressive myoclonic epilepsy type 6 0 trials
  • Progressive myoclonic epilepsy type 7 0 trials
  • Progressive myoclonic epilepsy type 8 0 trials
  • Progressive myoclonic epilepsy type 9 0 trials
• DiGeorge syndrome 11 trials
• Major affective disorder 6 11 trials
• Auditory neuropathy 7 trials · 11 incl. sub-types
  5 sub-types

  • Autosomal recessive nonsyndromic hearing loss 9 9 trials
  • X-linked hereditary sensory and autonomic neuropathy with hearing loss 0 trials
  • Auditory neuropathy, autosomal dominant 2 0 trials
  • Auditory neuropathy, autosomal dominant 3 0 trials
  • Autosomal dominant auditory neuropathy 1 0 trials
• Spastic quadriplegic cerebral palsy 10 trials
  3 sub-types

  • Cerebral palsy, spastic quadriplegic, 2 0 trials
  • Cerebral palsy, spastic quadriplegic, 3 0 trials
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 trials
• Chiari malformation type I 9 trials
• Neurohypophyseal diabetes insipidus 9 trials
• Sturge-Weber syndrome 8 trials
• Progressive external ophthalmoplegia 4 trials · 8 incl. sub-types
  3 sub-types

  • Kearns-Sayre syndrome 5 trials
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions 0 trials · 2 incl. sub-types Sub-types →
  • Autosomal recessive progressive external ophthalmoplegia 0 trials Sub-types →
• Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 0 trials · 8 incl. sub-types
  9 sub-types

  • Qualitative or quantitative defects of FKRP 0 trials · 8 incl. sub-types Sub-types →
  • Myopathy caused by variation in FKTN 1 trial · 2 incl. sub-types Sub-types →
  • Myopathy caused by variation in CRPPA 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in GMPPB 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in POMT1 0 trials · 1 incl. sub-types Sub-types →
  • Myopathy caused by variation in POMT2 0 trials · 1 incl. sub-types Sub-types →
  • Qualitative or quantitative defects of protein O-mannosyltransferase 1 0 trials · 1 incl. sub-types Sub-types →
  • Qualitative or quantitative defects of protein O-mannosyltransferase 2 0 trials · 1 incl. sub-types Sub-types →
  • Limb-girdle muscular dystrophy due to POMK deficiency 0 trials
• Red-green color blindness 7 trials
• Duane retraction syndrome 6 trials
  4 sub-types

  • Duane retraction syndrome 2 0 trials
  • Duane retraction syndrome 3 with or without deafness 0 trials
  • Duane retraction syndrome with congenital deafness 0 trials
  • Duane syndrome type 1 0 trials
• Arthrogryposis 4 trials · 6 incl. sub-types
  5 sub-types

  • Freeman-Sheldon syndrome 1 trial Sub-types →
  • Congenital contractural arachnodactyly 1 trial
  • Boylan dew greco syndrome 0 trials
  • Distal arthrogryposis Moore weaver type 0 trials
  • Massa casaer ceulemans syndrome 0 trials
• Undetermined early-onset epileptic encephalopathy 1 trial · 6 incl. sub-types
  16 sub-types

  • Developmental and epileptic encephalopathy, 13 3 trials
  • Developmental and epileptic encephalopathy, 25 1 trial
  • Developmental and epileptic encephalopathy, 42 1 trial
  • Developmental and epileptic encephalopathy, 21 0 trials
  • Developmental and epileptic encephalopathy, 24 0 trials
  • Developmental and epileptic encephalopathy, 26 0 trials
  • Developmental and epileptic encephalopathy, 28 0 trials
  • Developmental and epileptic encephalopathy, 29 0 trials
  • Developmental and epileptic encephalopathy, 31A 0 trials
  • Developmental and epileptic encephalopathy, 32 0 trials
  • Developmental and epileptic encephalopathy, 33 0 trials
  • Developmental and epileptic encephalopathy, 41 0 trials
  • Developmental and epileptic encephalopathy, 44 0 trials
  • Developmental and epileptic encephalopathy, 45 0 trials
  • Developmental and epileptic encephalopathy, 46 0 trials
  • Developmental and epileptic encephalopathy, 47 0 trials
• Inborn aminoacylase deficiency 0 trials · 6 incl. sub-types
  2 sub-types

  • Canavan disease 6 trials Sub-types →
  • Aminoacylase 1 deficiency 0 trials
• Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
• Narcolepsy 1 5 trials
• Nevoid basal cell carcinoma syndrome 5 trials
  2 sub-types

  • Basal cell nevus syndrome 1 0 trials
  • Basal cell nevus syndrome 2 0 trials
• GLUT1 deficiency syndrome 4 trials · 5 incl. sub-types
  2 sub-types

  • Encephalopathy due to GLUT1 deficiency 5 trials
  • Childhood onset GLUT1 deficiency syndrome 2 0 trials
• Congenital nystagmus 4 trials · 5 incl. sub-types
  10 sub-types

  • Spinocerebellar ataxia 27A 1 trial
  • Nystagmus 1, congenital, X-linked 0 trials
  • Nystagmus 2, congenital, autosomal dominant 0 trials
  • Nystagmus 3, congenital, autosomal dominant 0 trials
  • Nystagmus 5, congenital, X-linked 0 trials
  • Nystagmus 6, congenital, X-linked 0 trials
  • Nystagmus 7, congenital, autosomal dominant 0 trials
  • Nystagmus, congenital, autosomal recessive 0 trials
  • Nystagmus, hereditary vertical 0 trials
  • Nystagmus, myoclonic 0 trials
• Congenital stationary night blindness 2 trials · 5 incl. sub-types
  14 sub-types

  • Congenital stationary night blindness autosomal dominant 1 3 trials
  • Congenital stationary night blindness autosomal dominant 2 1 trial
  • Oguchi disease 0 trials Sub-types →
  • X-linked congenital stationary night blindness 0 trials Sub-types →
  • Cone-rod synaptic disorder, congenital nonprogressive 0 trials
  • Congenital stationary night blindness 1B 0 trials
  • Congenital stationary night blindness 1C 0 trials
  • Congenital stationary night blindness 1D 0 trials
  • Congenital stationary night blindness 1E 0 trials
  • Congenital stationary night blindness 1F 0 trials
  • Congenital stationary night blindness 1G 0 trials
  • Congenital stationary night blindness 1H 0 trials
  • Congenital stationary night blindness autosomal dominant 3 0 trials
  • Night blindness, congenital stationary, type1i 0 trials
• Qualitative or quantitative defects of beta-sarcoglycan 0 trials · 5 incl. sub-types
  1 sub-type

  • Autosomal recessive limb-girdle muscular dystrophy type 2E 5 trials
• Corpus callosum, agenesis of 4 trials
  2 sub-types

  • Kozlowski Ouvrier syndrome 0 trials
  • Calloso-genital dysplasia 0 trials
• Glutaryl-CoA dehydrogenase deficiency 4 trials
• Velocardiofacial syndrome 4 trials
• TTN-related myopathy 2 trials · 4 incl. sub-types
  2 sub-types

  • Autosomal recessive titinopathy 0 trials · 2 incl. sub-types Sub-types →
  • Autosomal dominant titinopathy 0 trials Sub-types →
• Qualitative or quantitative defects of gamma-sarcoglycan 1 trial · 4 incl. sub-types
  1 sub-type

  • Autosomal recessive limb-girdle muscular dystrophy type 2C 4 trials
• Hoyeraal-Hreidarsson syndrome 3 trials
• Riley-Day syndrome 3 trials
• Bilirubin encephalopathy 3 trials
  1 sub-type

  • Kernicterus due to isoimmunization 0 trials
• Familial congenital mirror movements 3 trials
  4 sub-types

  • Mirror movements 1 and/or agenesis of the corpus callosum 0 trials Sub-types →
  • Mirror movements 2 0 trials
  • Mirror movements 3 0 trials
  • Mirror movements 4 0 trials
• Megalencephaly-capillary malformation-polymicrogyria syndrome 3 trials
• Pyridoxine-dependent epilepsy 3 trials
  2 sub-types

  • Epilepsy, early-onset, vitamin B6-dependent 1 trial
  • Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant 0 trials
• Encephalopathy, acute, infection-induced 2 trials · 3 incl. sub-types
  1 sub-type

  • Familial acute necrotizing encephalopathy 1 trial
• TPM2-related myopathy 1 trial · 3 incl. sub-types
  2 sub-types

  • Central core myopathy 2 trials
  • Congenital myopathy 23 0 trials
• Congenital hydrocephalus 1 trial · 3 incl. sub-types
  8 sub-types

  • X-linked hydrocephalus with stenosis of the aqueduct of Sylvius 1 trial
  • Hydrocephalus, nonsyndromic, autosomal recessive 1 1 trial
  • Autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius 0 trials
  • Congenital communicating hydrocephalus 0 trials
  • Congenital non-communicating hydrocephalus 0 trials
  • Hydrocephalus, congenital, 3, with brain anomalies 0 trials
  • Hydrocephalus, nonsyndromic, autosomal recessive 2 0 trials
  • Hydrocephalus-blue sclerae-nephropathy syndrome 0 trials
• Pontocerebellar hypoplasia 1 trial · 3 incl. sub-types
  21 sub-types

  • Pontocerebellar hypoplasia type 6 2 trials
  • Pontocerebellar hypoplasia type 1 0 trials Sub-types →
  • Pontocerebellar hypoplasia type 10 0 trials
  • Pontocerebellar hypoplasia type 2 0 trials Sub-types →
  • Pontocerebellar hypoplasia type 2E 0 trials
  • Pontocerebellar hypoplasia type 3 0 trials
  • Pontocerebellar hypoplasia type 4 0 trials
  • Pontocerebellar hypoplasia type 5 0 trials
  • Pontocerebellar hypoplasia type 7 0 trials
  • Pontocerebellar hypoplasia type 8 0 trials
  • Pontocerebellar hypoplasia type 9 0 trials
  • Pontocerebellar hypoplasia, IIA 17 0 trials
  • Pontocerebellar hypoplasia, type 11 0 trials
  • Pontocerebellar hypoplasia, type 12 0 trials
  • Pontocerebellar hypoplasia, type 13 0 trials
  • Pontocerebellar hypoplasia, type 14 0 trials
  • Pontocerebellar hypoplasia, type 15 0 trials
  • Pontocerebellar hypoplasia, type 16 0 trials
  • Pontocerebellar hypoplasia, type 1D 0 trials
  • Pontocerebellar hypoplasia, type 1E 0 trials
  • Pontocerebellar hypoplasia, type 1F 0 trials
• Familial porencephaly 0 trials · 3 incl. sub-types
  7 sub-types

  • Brain small vessel disease 1 with or without ocular anomalies 3 trials
  • Brain small vessel disease 2A, autosomal dominant 1 trial
  • Brain small vessel disease 2B, autosomal recessive 0 trials
  • Brain small vessel disease 3 0 trials
  • Brain small vessel disease 4 0 trials
  • Brain small vessel disease 5 with osteoporosis 0 trials
  • Brain small vessel disease 6 with leukoencephalopathy 0 trials
• Inherited reflex epilepsy 0 trials · 3 incl. sub-types
  2 sub-types

  • Photosensitive epilepsy 1 trial · 2 incl. sub-types Sub-types →
  • Hot water reflex epilepsy 1 trial Sub-types →
• Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 0 trials · 3 incl. sub-types
  4 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2B 3 trials
  • Miyoshi muscular dystrophy 1 0 trials
  • Congenital myopathy, Paradas type 0 trials
  • Distal myopathy with anterior tibial onset 0 trials
• Qualitative or quantitative defects of alpha-sarcoglycan 0 trials · 3 incl. sub-types
  1 sub-type

  • Autosomal recessive limb-girdle muscular dystrophy type 2D 3 trials
• Chiari malformation type II 2 trials
• Central nervous system lupus 2 trials
• Choroid plexus papilloma 2 trials
• Dyskinesia with orofacial involvement, autosomal dominant 2 trials
• Hereditary retinoblastoma 2 trials
• Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 2 trials
• Isolated hereditary congenital facial paralysis 2 trials
  1 sub-type

  • Facial paresis, hereditary congenital, 1 0 trials
• Pyridoxal phosphate-responsive seizures 2 trials
• Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types
  6 sub-types

  • Nemaline myopathy 6 1 trial
  • Congenital myopathy 23 0 trials
  • Congenital myopathy 2a, typical, autosomal dominant 0 trials
  • Congenital myopathy 4B, autosomal recessive 0 trials
  • Nemaline myopathy 2 0 trials
  • Nemaline myopathy 9 0 trials
• ATP1A3-associated neurological disorder 0 trials · 2 incl. sub-types
  4 sub-types

  • Dystonia 12 2 trials
  • Alternating hemiplegia of childhood 2 0 trials
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 trials
  • Developmental and epileptic encephalopathy 99 0 trials
• PAX6-related ocular dysgenesis 0 trials · 2 incl. sub-types
  2 sub-types

  • Isolated optic nerve hypoplasia 2 trials
  • Foveal hypoplasia 1 0 trials
• SPAST-related motor disorder 0 trials · 2 incl. sub-types
  1 sub-type

  • Hereditary spastic paraplegia 4 2 trials
• Leukoencephalopathy, megalencephalic 0 trials · 2 incl. sub-types
  3 sub-types

  • Megalencephalic leukoencephalopathy with subcortical cysts 2 trials Sub-types →
  • Megalencephalic leukoencephalopathy with subcortical cysts 3 0 trials
  • Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting 0 trials
• Qualitative or quantitative defects of delta-sarcoglycan 0 trials · 2 incl. sub-types
  2 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2F 2 trials
  • Dilated cardiomyopathy 1L 0 trials
• Retinal ciliopathy 0 trials · 2 incl. sub-types
  9 sub-types

  • Leber congenital amaurosis 10 2 trials
  • Leber congenital amaurosis with early-onset deafness 0 trials
  • Cone-rod dystrophy 16 0 trials
  • Retinitis pigmentosa 23 0 trials
  • Retinitis pigmentosa 51 0 trials
  • Retinitis pigmentosa 55 0 trials
  • Retinitis pigmentosa 64 0 trials
  • Retinitis pigmentosa 74 0 trials
  • Retinitis pigmentosa 80 0 trials
• Brown syndrome 1 trial
• Gerstmann-Straussler-Scheinker syndrome 1 trial
• Guillain-Barre syndrome, familial 1 trial
• TH-deficient dopa-responsive dystonia 1 trial
• TPM3-related myopathy 1 trial
  3 sub-types

  • Cap myopathy 0 trials
  • Congenital myopathy 4A, autosomal dominant 0 trials
  • Congenital myopathy 4B, autosomal recessive 0 trials
• Anencephaly 1 trial
  4 sub-types

  • Anencephaly 1 0 trials
  • Anencephaly 2 0 trials
  • Hydranencephaly 0 trials Sub-types →
  • Isolated anencephaly 0 trials
• Bilateral striopallidodentate calcinosis 1 trial
  10 sub-types

  • Basal ganglia calcification, idiopathic, 1 0 trials
  • Basal ganglia calcification, idiopathic, 10, autosomal recessive 0 trials
  • Basal ganglia calcification, idiopathic, 11, autosomal recessive 0 trials
  • Basal ganglia calcification, idiopathic, 4 0 trials
  • Basal ganglia calcification, idiopathic, 5 0 trials
  • Basal ganglia calcification, idiopathic, 6 0 trials
  • Basal ganglia calcification, idiopathic, 7, autosomal recessive 0 trials
  • Basal ganglia calcification, idiopathic, 8, autosomal recessive 0 trials
  • Basal ganglia calcification, idiopathic, 9, autosomal recessive 0 trials
  • Basal ganglia calcification, idiopathic, childhood-onset 0 trials
• Biotin-responsive basal ganglia disease 1 trial
• Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 trial
• Coloboma of optic nerve 1 trial
  1 sub-type

  • Morning glory syndrome 0 trials
• Dilated cardiomyopathy 3B 1 trial
• Epilepsy with myoclonic atonic seizures 1 trial
• Familial meningioma 1 trial
• Familial pterygium of the conjunctiva 1 trial
• Famililal cerebral cavernous malformations 1 trial
  5 sub-types

  • Cerebral cavernous malformation 1 1 trial
  • Cerebral cavernous malformation 2 0 trials
  • Cerebral cavernous malformation 3 0 trials
  • Cerebral cavernous malformation 4 0 trials
  • Cerebral cavernous malformations 5 0 trials
• Iris hypoplasia with glaucoma 1 trial
• Isolated cerebellar hypoplasia/agenesis 1 trial
• Linear nevus sebaceous syndrome 1 trial
• Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 trial
• Multiminicore myopathy 1 trial
  5 sub-types

  • Rigid spine muscular dystrophy 1 1 trial Sub-types →
  • Antenatal multiminicore disease with arthrogryposis multiplex congenita 0 trials
  • Classic multiminicore myopathy 0 trials
  • Congenital multicore myopathy with external ophthalmoplegia 0 trials
  • Moderate multiminicore disease with hand involvement 0 trials
• Myoclonus, familial 1 trial
  2 sub-types

  • Myoclonus, familial, 1 0 trials
  • Myoclonus, familial, 2 0 trials
• Neurocutaneous melanocytosis 1 trial
• Rhabdoid tumor predisposition syndrome 2 1 trial
• Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 1 trial
• 2-hydroxyglutaric aciduria 0 trials · 1 incl. sub-types
  3 sub-types

  • D,L-2-hydroxyglutaric aciduria 1 trial
  • D-2-hydroxyglutaric aciduria 0 trials Sub-types →
  • L-2-hydroxyglutaric aciduria 0 trials
• PRRT2-associated paroxysmal movement disorder 0 trials · 1 incl. sub-types
  3 sub-types

  • Episodic kinesigenic dyskinesia 1 1 trial
  • Infantile convulsions and choreoathetosis 0 trials
  • Seizures, benign familial infantile, 2 0 trials
• Familial hemiplegic migraine 0 trials · 1 incl. sub-types
  5 sub-types

  • Migraine, familial hemiplegic, 1 1 trial
  • Hemiplegic migraine-developmental and epileptic encephalopathy spectrum 0 trials
  • Migraine, familial hemiplegic, 2 0 trials
  • Migraine, familial hemiplegic, 3 0 trials
  • Migraine, familial hemiplegic, 4 0 trials
• Familial periodic paralysis 0 trials · 1 incl. sub-types
  6 sub-types

  • Hyperkalemic periodic paralysis 1 trial
  • Hypokalemic periodic paralysis 1 trial Sub-types →
  • Andersen-Tawil syndrome 0 trials
  • Normokalemic periodic paralysis 0 trials
  • Periodic paralysis with later-onset distal motor neuropathy 0 trials
  • Thyrotoxic periodic paralysis 0 trials
• Myopathy caused by variation in POMGNT1 0 trials · 1 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2O 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of plectin 0 trials · 1 incl. sub-types
  2 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2Q 1 trial
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of telethonin 0 trials · 1 incl. sub-types
  2 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2G 1 trial
  • Hypertrophic cardiomyopathy 25 0 trials
• Qualitative or quantitative defects of desmin 0 trials · 1 incl. sub-types
  5 sub-types

  • Rigid spine syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Autosomal dominant limb-girdle muscular dystrophy type 1E (DES) 0 trials
  • Dilated cardiomyopathy 1I 0 trials
  • Myofibrillar myopathy 1 0 trials
  • Neurogenic scapuloperoneal syndrome, Kaeser type 0 trials
• Severe congenital nemaline myopathy 0 trials · 1 incl. sub-types
  5 sub-types

  • Nemaline myopathy 8 1 trial
  • Congenital myopathy 2a, typical, autosomal dominant 0 trials
  • Nemaline myopathy 10 0 trials
  • Nemaline myopathy 2 0 trials
  • Nemaline myopathy 9 0 trials
• B4GALT1-congenital disorder of glycosylation 0 trials
• Bailey-Bloch congenital myopathy 0 trials
• Behr syndrome 0 trials
• Behrens Baumann dust syndrome 0 trials
• Brody myopathy 0 trials
• DHDDS-related syndrome 0 trials
  2 sub-types

  • Developmental delay and seizures with or without movement abnormalities 0 trials
  • Retinitis pigmentosa 59 0 trials
• Frey syndrome 0 trials
• Griscelli syndrome type 1 0 trials
• HSD10 mitochondrial disease 0 trials
  3 sub-types

  • HSD10 disease, atypical type 0 trials
  • HSD10 disease, infantile type 0 trials
  • HSD10 disease, neonatal type 0 trials
• Johanson-Blizzard syndrome 0 trials
• KIF5A-related neurological disorder 0 trials
  3 sub-types

  • Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 0 trials
  • Hereditary spastic paraplegia 10 0 trials
  • Myoclonus, intractable, neonatal 0 trials
• LSM7-related leukodystrophy and cerebellar atrophy 0 trials
• Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 0 trials
• NPHP3-related Meckel-like syndrome 0 trials
• PEHO-like syndrome 0 trials
• PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 trials
• PrP systemic amyloidosis 0 trials
• Prader-Willi-like syndrome 0 trials
  3 sub-types

  • 6q16 deletion syndrome 0 trials
  • BDV syndrome 0 trials
  • SIM1-related Prader-Willi-like syndrome 0 trials
• Ritscher-Schinzel syndrome 0 trials
  4 sub-types

  • Ritscher-Schinzel syndrome 1 0 trials
  • Ritscher-Schinzel syndrome 2 0 trials
  • Ritscher-Schinzel syndrome 3 0 trials
  • Ritscher-Schinzel syndrome 4 0 trials
• SERAC1-related neurological disorder 0 trials
  1 sub-type

  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 trials
• SLC39A8-CDG 0 trials
• SLC6A3-related dopamine transporter deficiency syndrome 0 trials
  2 sub-types

  • Atypical dopamine transporter deficiency syndrome 0 trials
  • Classic dopamine transporter deficiency syndrome 0 trials
• TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
• TUBB3-related tubulinopathy 0 trials
  1 sub-type

  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 0 trials
• Uner Tan Syndrome 0 trials
• VPS11-related neurological disorder 0 trials
  2 sub-types

  • Dystonia 32 0 trials
  • Hypomyelinating leukodystrophy 12 0 trials
• Valence-Farazi cerebellar ataxia syndrome 0 trials
• X-linked immunoneurologic disorder 0 trials
• X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 0 trials
• Achromatopsia 6 0 trials
• Adult-onset nemaline myopathy 0 trials
• Age-related hearing impairment 1 0 trials
• Age-related hearing impairment 2 0 trials
• Alpha-actinopathy 0 trials
  4 sub-types

  • Cap myopathy 0 trials
  • Congenital myopathy 2a, typical, autosomal dominant 0 trials
  • Progressive scapulohumeroperoneal distal myopathy 0 trials
  • Zebra body myopathy 0 trials
• Angioid streaks 0 trials
  1 sub-type

  • Angioid streaks of choroid 0 trials
• Aniridia 2 0 trials
• Aniridia 3 0 trials
• Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 trials
• Band heterotopia of brain 0 trials
• Benign familial infantile epilepsy 0 trials
  5 sub-types

  • Benign familial neonatal-infantile seizures 1 0 trials
  • Seizures, benign familial infantile, 2 0 trials
  • Seizures, benign familial infantile, 3 0 trials
  • Seizures, benign familial infantile, 4 0 trials
  • Seizures, benign familial infantile, 5 0 trials
• Benign neonatal seizures 0 trials
  4 sub-types

  • Seizures, benign familial neonatal, 1 0 trials
  • Seizures, benign familial neonatal, 2 0 trials
  • Seizures, benign familial neonatal, 3 0 trials
  • Seizures, benign familial neonatal, autosomal recessive 0 trials
• Bilateral frontoparietal polymicrogyria 0 trials
• Bilateral generalized polymicrogyria 0 trials
• Bilateral parasagittal parieto-occipital polymicrogyria 0 trials
• Blue color blindness 0 trials
• Bradyopsia 0 trials
  2 sub-types

  • Prolonged electroretinal response suppression 1 0 trials
  • Prolonged electroretinal response suppression 2 0 trials
• Brain malformations with or without urinary tract defects 0 trials
• Brain-lung-thyroid syndrome 0 trials
• Cathepsin a-related arteriopathy-strokes-leukoencephalopathy 0 trials
• Caveolinopathy 0 trials
  1 sub-type

  • Isolated asymptomatic elevation of creatine phosphokinase 0 trials
• Cerebellar-facial-dental syndrome 0 trials
• Chorea, remitting, with nystagmus and cataract 0 trials
• Choreoathetosis, familial inverted 0 trials
• Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 0 trials
• Cluster headache, familial 0 trials
• Complex cortical dysplasia with other brain malformations 0 trials
  12 sub-types

  • Complex cortical dysplasia with other brain malformations 1 0 trials
  • Complex cortical dysplasia with other brain malformations 2 0 trials
  • Complex cortical dysplasia with other brain malformations 3 0 trials
  • Complex cortical dysplasia with other brain malformations 4 0 trials
  • Complex cortical dysplasia with other brain malformations 5 0 trials
  • Complex cortical dysplasia with other brain malformations 6 0 trials
  • Complex cortical dysplasia with other brain malformations 7 0 trials
  • Cortical dysplasia, complex, with other brain malformations 10 0 trials
  • Cortical dysplasia, complex, with other brain malformations 11 0 trials
  • Cortical dysplasia, complex, with other brain malformations 12 0 trials
  • Cortical dysplasia, complex, with other brain malformations 9 0 trials
  • Polymicrogyria with optic nerve hypoplasia 0 trials
• Congenital insensitivity to pain with severe intellectual disability 0 trials
• Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 0 trials
• Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive 0 trials
• Encephalopathy due to mitochondrial and peroxisomal fission defect 0 trials
  2 sub-types

  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 0 trials
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 trials
• Encephalopathy, acute transient 0 trials
• Encephalopathy, recurrent, of childhood 0 trials
• Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features 0 trials
  2 sub-types

  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 trials
  • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features 0 trials
• Epilepsy, familial adult myoclonic 0 trials
  8 sub-types

  • Benign adult familial myoclonic epilepsy 0 trials
  • Epilepsy, familial adult myoclonic, 1 0 trials
  • Epilepsy, familial adult myoclonic, 2 0 trials
  • Epilepsy, familial adult myoclonic, 3 0 trials
  • Epilepsy, familial adult myoclonic, 4 0 trials
  • Epilepsy, familial adult myoclonic, 5 0 trials
  • Epilepsy, familial adult myoclonic, 6 0 trials
  • Epilepsy, familial adult myoclonic, 7 0 trials
• Familial Alzheimer-like prion disease 0 trials
• Familial congenital palsy of trochlear nerve 0 trials
• Familial hemophagocytic lymphohistiocytosis type 1 0 trials
• Familial hyperprolactinemia 0 trials
• Familial infantile myoclonic epilepsy 0 trials
• Familial panic disorder 0 trials
  3 sub-types

  • Panic disorder 1 0 trials
  • Panic disorder 2 0 trials
  • Panic disorder 3 0 trials
• Familial retinal arterial macroaneurysm 0 trials
• Familial schizencephaly 0 trials
• Familial syringomyelia 0 trials
• Fatty acyl-CoA reductase 1 upregulation 0 trials
• Febrile seizures, familial, 11 0 trials
• Folinic acid-responsive seizures 0 trials
• Glycine encephalopathy 0 trials
  5 sub-types

  • Atypical glycine encephalopathy 0 trials
  • Glycine encephalopathy 1 0 trials
  • Glycine encephalopathy 2 0 trials
  • Infantile glycine encephalopathy 0 trials
  • Neonatal glycine encephalopathy 0 trials
• Hereditary hyperekplexia 0 trials
  5 sub-types

  • Developmental and epileptic encephalopathy, 8 0 trials
  • Hyperekplexia 1 0 trials
  • Hyperekplexia 2 0 trials
  • Hyperekplexia 3 0 trials
  • Hyperekplexia 4 0 trials
• Hereditary progressive chorea without dementia 0 trials
• Holoprosencephaly 0 trials
  17 sub-types

  • Alobar holoprosencephaly 0 trials Sub-types →
  • Chromosome 1q41-q42 deletion syndrome 0 trials
  • Holoprosencephaly 1 0 trials
  • Holoprosencephaly 10 0 trials
  • Holoprosencephaly 11 0 trials
  • Holoprosencephaly 12 with or without pancreatic agenesis 0 trials
  • Holoprosencephaly 13, X-linked 0 trials
  • Holoprosencephaly 14 0 trials
  • Holoprosencephaly 2 0 trials
  • Holoprosencephaly 3 0 trials Sub-types →
  • Holoprosencephaly 4 0 trials
  • Holoprosencephaly 6 0 trials
  • Holoprosencephaly 7 0 trials
  • Holoprosencephaly 8 0 trials
  • Lobar holoprosencephaly 0 trials Sub-types →
  • Microform holoprosencephaly 0 trials Sub-types →
  • Semilobar holoprosencephaly 0 trials
• Hyperlexia 0 trials
• Hypermanganesemia with dystonia 2 0 trials
• Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 trials
• Infection-induced acute-onset axonal neuropathy 0 trials
• Intracranial extraskeletal myxoid chondrosarcoma 0 trials
• Lateral meningocele syndrome 0 trials
• Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
• Lissencephaly spectrum disorders 0 trials
  14 sub-types

  • Baraitser-Winter cerebrofrontofacial syndrome 0 trials Sub-types →
  • Warburg micro syndrome 0 trials Sub-types →
  • X-linked lissencephaly with abnormal genitalia 0 trials
  • Classic lissencephaly 0 trials Sub-types →
  • Cobblestone lissencephaly 0 trials Sub-types →
  • Craniotelencephalic dysplasia 0 trials
  • Lissencephaly 10 0 trials
  • Lissencephaly 7 with cerebellar hypoplasia 0 trials
  • Lissencephaly 8 0 trials
  • Lissencephaly spectrum disorder with complex brainstem malformation 0 trials Sub-types →
  • Lissencephaly type 3 0 trials Sub-types →
  • Lissencephaly with cerebellar hypoplasia 0 trials Sub-types →
  • Massa casaer ceulemans syndrome 0 trials
  • Microlissencephaly 0 trials Sub-types →
• Macrocephaly/megalencephaly syndrome, autosomal recessive 0 trials
• Major affective disorder 1 0 trials
• Major affective disorder 2 0 trials
• Major affective disorder 3 0 trials
• Major affective disorder 4 0 trials
• Major affective disorder 5 0 trials
• Major affective disorder 7 0 trials
• Major affective disorder 8 0 trials
• Major affective disorder 9 0 trials
• Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 0 trials
  3 sub-types

  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 trials
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 trials
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 trials
• Melanoma and neural system tumor syndrome 0 trials
• Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 trials
• Microcephaly-complex motor and sensory axonal neuropathy syndrome 0 trials
• Multiple pterygium-malignant hyperthermia syndrome 0 trials
• Myofibrillar myopathy 5 0 trials
• Myopathy due to calsequestrin and SERCA1 protein overload 0 trials
• Myopic macular degeneration 0 trials
• Myosclerosis 0 trials
• Narcolepsy 3 0 trials
• Narcolepsy 7 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of TRIM32 0 trials
  2 sub-types

  • Bardet-Biedl syndrome 11 0 trials
  • Autosomal recessive limb-girdle muscular dystrophy type 2H 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 0 trials
  3 sub-types

  • MYH7-related skeletal myopathy 0 trials
  • Congenital myopathy 7A, myosin storage, autosomal dominant 0 trials
  • Hyaline body myopathy 0 trials
• Neuromuscular disease caused by qualitative or quantitative defects of perlecan 0 trials
  2 sub-types

  • Schwartz-Jampel syndrome 0 trials Sub-types →
  • Silverman-Handmaker type dyssegmental dysplasia 0 trials
• Neuroocular syndrome 0 trials
  2 sub-types

  • Benign paroxysmal tonic upgaze of childhood with ataxia 0 trials
  • Neuroocular syndrome 1 0 trials
• Occipital pachygyria and polymicrogyria 0 trials
• Oculocerebrocutaneous syndrome 0 trials
• Orofaciodigital syndrome type 6 0 trials
• Parietal foramina 0 trials
  3 sub-types

  • Parietal foramina 1 0 trials
  • Parietal foramina 2 0 trials
  • Parietal foramina 3 0 trials
• Parkinsonism with polyneuropathy 0 trials
• Paroxysmal extreme pain disorder 0 trials
• Periventricular nodular heterotopia 0 trials
  8 sub-types

  • Chromosome 5Q14.3 deletion syndrome, distal 0 trials
  • Heterotopia, periventricular, X-linked dominant 0 trials
  • Heterotopia, periventricular, associated with chromosome 5P anomalies 0 trials
  • Periventricular heterotopia with microcephaly, autosomal recessive 0 trials
  • Periventricular nodular heterotopia 6 0 trials
  • Periventricular nodular heterotopia 7 0 trials
  • Periventricular nodular heterotopia 8 0 trials
  • Periventricular nodular heterotopia 9 0 trials
• Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0 trials
• Phakomatosis pigmentokeratotica 0 trials
• Polyhydramnios, megalencephaly, and symptomatic epilepsy 0 trials
• Polymicrogyria, bilateral perisylvian, autosomal recessive 0 trials
• Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 trials
• Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 0 trials
• Prosopagnosia, hereditary 0 trials
• Proximal myopathy with extrapyramidal signs 0 trials
• Red color blindness 0 trials
• Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 0 trials
• Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 0 trials
• Schizophrenia 15 0 trials
• Schizophrenia 16 0 trials
• Schizophrenia 19 0 trials
• Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 trials
• Severe neonatal-onset encephalopathy with microcephaly 0 trials
• Spongiform encephalopathy with neuropsychiatric features 0 trials
• Typical nemaline myopathy 0 trials
  6 sub-types

  • Congenital myopathy 23 0 trials
  • Congenital myopathy 2a, typical, autosomal dominant 0 trials
  • Nemaline myopathy 10 0 trials
  • Nemaline myopathy 2 0 trials
  • Nemaline myopathy 7 0 trials
  • Nemaline myopathy 9 0 trials