Mendelian neurodevelopmental disorder

Part of

Sub-types of Mendelian neurodevelopmental disorder

• Genetic developmental and epileptic encephalopathy 2 trials · 83 incl. sub-types
  105 sub-types

  • Dravet syndrome 39 trials
  • Lennox-Gastaut syndrome 26 trials · 27 incl. sub-types Sub-types →
  • Developmental and epileptic encephalopathy, 2 10 trials
  • Developmental and epileptic encephalopathy, 4 6 trials
  • Neonatal-onset developmental and epileptic encephalopathy 0 trials · 5 incl. sub-types Sub-types →
  • Developmental and epileptic encephalopathy, 11 4 trials
  • Developmental and epileptic encephalopathy, 14 3 trials
  • Developmental and epileptic encephalopathy, 1 2 trials
  • Developmental and epileptic encephalopathy, 17 2 trials
  • Developmental and epileptic encephalopathy 114 1 trial
  • Developmental and epileptic encephalopathy, 35 1 trial
  • Developmental and epileptic encephalopathy, 7 1 trial
  • Non-neonatal early infantile epileptic encephalopathy 1 trial
  • DNM1-encephalopathy and neurodevelopmental disorder 0 trials Sub-types →
  • TMEM63B-related developmental and epileptic encephalopathy with anemia 0 trials
  • Developmental and epileptic encephalopathy 100 0 trials
  • Developmental and epileptic encephalopathy 101 0 trials
  • Developmental and epileptic encephalopathy 102 0 trials
  • Developmental and epileptic encephalopathy 103 0 trials
  • Developmental and epileptic encephalopathy 104 0 trials
  • Developmental and epileptic encephalopathy 105 with hypopituitarism 0 trials
  • Developmental and epileptic encephalopathy 106 0 trials
  • Developmental and epileptic encephalopathy 107 0 trials
  • Developmental and epileptic encephalopathy 108 0 trials
  • Developmental and epileptic encephalopathy 109 0 trials
  • Developmental and epileptic encephalopathy 110 0 trials
  • Developmental and epileptic encephalopathy 111 0 trials
  • Developmental and epileptic encephalopathy 112 0 trials
  • Developmental and epileptic encephalopathy 113 0 trials
  • Developmental and epileptic encephalopathy 115 0 trials
  • Developmental and epileptic encephalopathy 116 0 trials
  • Developmental and epileptic encephalopathy 118 0 trials
  • Developmental and epileptic encephalopathy 119 0 trials
  • Developmental and epileptic encephalopathy 120 0 trials
  • Developmental and epileptic encephalopathy 121 0 trials
  • Developmental and epileptic encephalopathy 6B 0 trials
  • Developmental and epileptic encephalopathy 89 0 trials
  • Developmental and epileptic encephalopathy 91 0 trials
  • Developmental and epileptic encephalopathy 92 0 trials
  • Developmental and epileptic encephalopathy 93 0 trials
  • Developmental and epileptic encephalopathy 96 0 trials
  • Developmental and epileptic encephalopathy 97 0 trials
  • Developmental and epileptic encephalopathy 98 0 trials
  • Developmental and epileptic encephalopathy 99 0 trials
  • Developmental and epileptic encephalopathy, 15 0 trials
  • Developmental and epileptic encephalopathy, 18 0 trials
  • Developmental and epileptic encephalopathy, 19 0 trials
  • Developmental and epileptic encephalopathy, 23 0 trials
  • Developmental and epileptic encephalopathy, 27 0 trials
  • Developmental and epileptic encephalopathy, 3 0 trials
  • Developmental and epileptic encephalopathy, 30 0 trials
  • Developmental and epileptic encephalopathy, 36 0 trials
  • Developmental and epileptic encephalopathy, 37 0 trials
  • Developmental and epileptic encephalopathy, 38 0 trials
  • Developmental and epileptic encephalopathy, 40 0 trials
  • Developmental and epileptic encephalopathy, 48 0 trials
  • Developmental and epileptic encephalopathy, 49 0 trials
  • Developmental and epileptic encephalopathy, 5 0 trials
  • Developmental and epileptic encephalopathy, 50 0 trials
  • Developmental and epileptic encephalopathy, 51 0 trials
  • Developmental and epileptic encephalopathy, 52 0 trials
  • Developmental and epileptic encephalopathy, 53 0 trials
  • Developmental and epileptic encephalopathy, 54 0 trials
  • Developmental and epileptic encephalopathy, 55 0 trials
  • Developmental and epileptic encephalopathy, 56 0 trials
  • Developmental and epileptic encephalopathy, 57 0 trials
  • Developmental and epileptic encephalopathy, 58 0 trials
  • Developmental and epileptic encephalopathy, 59 0 trials
  • Developmental and epileptic encephalopathy, 60 0 trials
  • Developmental and epileptic encephalopathy, 61 0 trials
  • Developmental and epileptic encephalopathy, 62 0 trials
  • Developmental and epileptic encephalopathy, 63 0 trials
  • Developmental and epileptic encephalopathy, 64 0 trials
  • Developmental and epileptic encephalopathy, 65 0 trials
  • Developmental and epileptic encephalopathy, 66 0 trials
  • Developmental and epileptic encephalopathy, 67 0 trials
  • Developmental and epileptic encephalopathy, 68 0 trials
  • Developmental and epileptic encephalopathy, 69 0 trials
  • Developmental and epileptic encephalopathy, 6A 0 trials
  • Developmental and epileptic encephalopathy, 70 0 trials
  • Developmental and epileptic encephalopathy, 71 0 trials
  • Developmental and epileptic encephalopathy, 72 0 trials
  • Developmental and epileptic encephalopathy, 73 0 trials
  • Developmental and epileptic encephalopathy, 74 0 trials
  • Developmental and epileptic encephalopathy, 75 0 trials
  • Developmental and epileptic encephalopathy, 76 0 trials
  • Developmental and epileptic encephalopathy, 77 0 trials
  • Developmental and epileptic encephalopathy, 78 0 trials
  • Developmental and epileptic encephalopathy, 79 0 trials
  • Developmental and epileptic encephalopathy, 8 0 trials
  • Developmental and epileptic encephalopathy, 80 0 trials
  • Developmental and epileptic encephalopathy, 81 0 trials
  • Developmental and epileptic encephalopathy, 82 0 trials
  • Developmental and epileptic encephalopathy, 83 0 trials
  • Developmental and epileptic encephalopathy, 84 0 trials
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 trials
  • Developmental and epileptic encephalopathy, 86 0 trials
  • Developmental and epileptic encephalopathy, 87 0 trials
  • Developmental and epileptic encephalopathy, 88 0 trials
  • Developmental and epileptic encephalopathy, 9 0 trials
  • Developmental and epileptic encephalopathy, 90 0 trials
  • Hemiplegic migraine-developmental and epileptic encephalopathy spectrum 0 trials
  • Microcephaly, seizures, and developmental delay 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
  • Neonatal-onset encephalopathy with rigidity and seizures 0 trials
• Prader-Willi syndrome 31 trials
  5 sub-types

  • Prader-Willi syndrome due to imprinting mutation 0 trials
  • Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 0 trials
  • Prader-Willi syndrome due to paternal 15q11q13 deletion 0 trials Sub-types →
  • Prader-Willi syndrome due to translocation 0 trials
  • Schaaf-Yang syndrome 0 trials
• Rett syndrome 31 trials
• Intellectual disability, autosomal dominant 0 trials · 23 incl. sub-types
  29 sub-types

  • Autosomal dominant syndromic intellectual disability 0 trials · 15 incl. sub-types Sub-types →
  • Autosomal dominant non-syndromic intellectual disability 0 trials · 8 incl. sub-types Sub-types →
  • Intellectual disability, autosomal dominant 5 2 trials
  • Intellectual developmental disorder, autosomal dominant 64 0 trials
  • Intellectual developmental disorder, autosomal dominant 65 0 trials
  • Intellectual developmental disorder, autosomal dominant 66 0 trials
  • Intellectual developmental disorder, autosomal dominant 67 0 trials
  • Intellectual developmental disorder, autosomal dominant 68 0 trials
  • Intellectual developmental disorder, autosomal dominant 69 0 trials
  • Intellectual developmental disorder, autosomal dominant 70 0 trials
  • Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 trials
  • Intellectual developmental disorder, autosomal dominant 72 0 trials
  • Intellectual developmental disorder, autosomal dominant 74 0 trials
  • Intellectual developmental disorder, autosomal dominant 75 0 trials
  • Intellectual developmental disorder, autosomal dominant 76 0 trials
  • Intellectual disability, autosomal dominant 1 0 trials
  • Intellectual disability, autosomal dominant 10 0 trials
  • Intellectual disability, autosomal dominant 11 0 trials
  • Intellectual disability, autosomal dominant 2 0 trials
  • Intellectual disability, autosomal dominant 24 0 trials
  • Intellectual disability, autosomal dominant 3 0 trials
  • Intellectual disability, autosomal dominant 38 0 trials
  • Intellectual disability, autosomal dominant 39 0 trials
  • Intellectual disability, autosomal dominant 4 0 trials
  • Intellectual disability, autosomal dominant 40 0 trials
  • Intellectual disability, autosomal dominant 42 0 trials
  • Intellectual disability, autosomal dominant 6 0 trials
  • Intellectual disability, autosomal dominant 9 0 trials
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 trials
• X-linked intellectual disability 1 trial · 15 incl. sub-types
  2 sub-types

  • X-linked syndromic intellectual disability 0 trials · 12 incl. sub-types Sub-types →
  • Non-syndromic X-linked intellectual disability 0 trials · 3 incl. sub-types Sub-types →
• CACNA1A-related complex neurodevelopmental disorder 1 trial · 9 incl. sub-types
  4 sub-types

  • Spinocerebellar ataxia type 6 9 trials
  • Developmental and epileptic encephalopathy, 42 1 trial
  • Episodic ataxia type 2 1 trial
  • Migraine, familial hemiplegic, 1 1 trial
• Autosomal recessive primary microcephaly 0 trials · 8 incl. sub-types
  29 sub-types

  • Microcephaly with or without short stature 0 trials · 8 incl. sub-types Sub-types →
  • Microcephalic primordial dwarfism due to ZNF335 deficiency 0 trials
  • Microcephaly 1, primary, autosomal recessive 0 trials
  • Microcephaly 11, primary, autosomal recessive 0 trials
  • Microcephaly 12, primary, autosomal recessive 0 trials
  • Microcephaly 13, primary, autosomal recessive 0 trials
  • Microcephaly 14, primary, autosomal recessive 0 trials
  • Microcephaly 15, primary, autosomal recessive 0 trials
  • Microcephaly 16, primary, autosomal recessive 0 trials
  • Microcephaly 17, primary, autosomal recessive 0 trials
  • Microcephaly 19, primary, autosomal recessive 0 trials
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 trials
  • Microcephaly 20, primary, autosomal recessive 0 trials
  • Microcephaly 21, primary, autosomal recessive 0 trials
  • Microcephaly 22, primary, autosomal recessive 0 trials
  • Microcephaly 23, primary, autosomal recessive 0 trials
  • Microcephaly 24, primary, autosomal recessive 0 trials
  • Microcephaly 25, primary, autosomal recessive 0 trials
  • Microcephaly 28, primary, autosomal recessive 0 trials
  • Microcephaly 29, primary, autosomal recessive 0 trials
  • Microcephaly 3, primary, autosomal recessive 0 trials
  • Microcephaly 30, primary, autosomal recessive 0 trials
  • Microcephaly 31, primary, autosomal recessive 0 trials
  • Microcephaly 4, primary, autosomal recessive 0 trials
  • Microcephaly 5, primary, autosomal recessive 0 trials
  • Microcephaly 7, primary, autosomal recessive 0 trials
  • Microcephaly 8, primary, autosomal recessive 0 trials
  • Microcephaly 9, primary, autosomal recessive 0 trials
  • Microcephaly with simplified gyral pattern 0 trials
• Smith-Magenis syndrome 5 trials
• Rubinstein-Taybi syndrome 3 trials
  3 sub-types

  • Rubinstein-Taybi syndrome due to CREBBP mutations 0 trials
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 trials
  • Chromosome 16p13.3 deletion syndrome 0 trials Sub-types →
• Alternating hemiplegia of childhood 3 trials
  3 sub-types

  • X-linked adrenal hypoplasia congenita 0 trials Sub-types →
  • Alternating hemiplegia of childhood 1 0 trials
  • Alternating hemiplegia of childhood 2 0 trials
• FOXG1 disorder 2 trials
• GRIN-related complex neurodevelopmental disorder 2 trials
  4 sub-types

  • GRIN1-related complex neurodevelopmental disorder 0 trials Sub-types →
  • GRIN2A-related complex neurodevelopmental disorder 0 trials Sub-types →
  • GRIN2B-related complex neurodevelopmental disorder 0 trials Sub-types →
  • Developmental and epileptic encephalopathy, 46 0 trials
• Neurodevelopmental disorder with involuntary movements 2 trials
• CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy 1 trial
• 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
• Dyneinopathy 0 trials · 1 incl. sub-types
  2 sub-types

  • Charcot-Marie-Tooth disease axonal type 2O 1 trial
  • Intellectual disability, autosomal dominant 13 0 trials
• Intellectual disability, autosomal recessive 0 trials · 1 incl. sub-types
  3 sub-types

  • Autosomal recessive syndromic intellectual disability 0 trials · 1 incl. sub-types Sub-types →
  • Autosomal recessive non-syndromic intellectual disability 0 trials Sub-types →
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0 trials
• 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
  2 sub-types

  • Intellectual disability, autosomal dominant 24 0 trials
  • Intellectual disability-epilepsy-extrapyramidal syndrome 0 trials
• 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
  1 sub-type

  • Intellectual developmental disorder, autosomal dominant 74 0 trials
• 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
  2 sub-types

  • Temple-Baraitser syndrome 0 trials
  • Zimmermann-Laband syndrome 1 0 trials
• 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
  2 sub-types

  • SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome 0 trials
  • Intellectual developmental disorder, autosomal dominant 70 0 trials
• 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
  2 sub-types

  • Developmental and epileptic encephalopathy, 8 0 trials
  • Developmental and epileptic encephalopathy, 9 0 trials
• Aplasia cutis-enamel dysplasia syndrome 0 trials
• Autosomal dominant primary microcephaly 0 trials
  3 sub-types

  • Microcephaly 18, primary, autosomal dominant 0 trials
  • Microcephaly 26, primary, autosomal dominant 0 trials
  • Microcephaly 27, primary, autosomal dominant 0 trials
• 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
  3 sub-types

  • Microcephaly and chorioretinopathy 1 0 trials
  • Microcephaly and chorioretinopathy 2 0 trials
  • Microcephaly and chorioretinopathy 3 0 trials
• Microcephaly with lissencephaly and/or hydranencephaly 0 trials
  2 sub-types

  • NDE1-related microhydranencephaly 0 trials
  • Lissencephaly 4 0 trials
• 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
  1 sub-type

  • HDAC4-related haploinsufficiency syndrome 0 trials
• 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