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Hereditary neurological disease

A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.

6 trials tagged with this condition →

Parkinson disease 1,165 trials · 1,292 incl. sub-types Sub-types →
Anxiety 1,030 trials
Hereditary neuromuscular disease 3 trials · 932 incl. sub-types Sub-types →
Inherited neurodegenerative disorder 10 trials · 807 incl. sub-types Sub-types →
Inherited retinal dystrophy 41 trials · 510 incl. sub-types Sub-types →
Mendelian neurodevelopmental disorder 0 trials · 207 incl. sub-types Sub-types →
Obsessive-compulsive disorder 196 trials
Hereditary ataxia 2 trials · 119 incl. sub-types Sub-types →
Essential tremor 102 trials · 104 incl. sub-types Sub-types →
Neurofibromatosis 19 trials · 94 incl. sub-types Sub-types →
Myalgic encephalomeyelitis/chronic fatigue syndrome 73 trials
Inherited orthostatic hypotension 0 trials · 71 incl. sub-types Sub-types →
Nonsyndromic genetic hearing loss 4 trials · 67 incl. sub-types Sub-types →
Inherited vitreoretinopathy 0 trials · 58 incl. sub-types Sub-types →
Paraganglioma 53 trials · 57 incl. sub-types Sub-types →
Retinal detachment 28 trials · 52 incl. sub-types Sub-types →
Tuberous sclerosis 41 trials · 44 incl. sub-types Sub-types →
Endogenous depression 42 trials
Specific phobia 22 trials · 42 incl. sub-types Sub-types →
Combined pituitary hormone deficiencies, genetic form 1 trial · 42 incl. sub-types Sub-types →
Tourette syndrome 41 trials
Familial partial epilepsy 0 trials · 39 incl. sub-types Sub-types →
Cerebral lipidosis with dementia 0 trials · 38 incl. sub-types Sub-types →
Inherited dystonia 0 trials · 36 incl. sub-types Sub-types →
Normal pressure hydrocephalus 35 trials
Mismatch repair cancer syndrome 1 34 trials
Hereditary generalized epilepsy 0 trials · 33 incl. sub-types Sub-types →
X-linked deafness 0 trials · 32 incl. sub-types Sub-types →
Familial isolated pituitary adenoma 1 trial · 31 incl. sub-types Sub-types →
Von Hippel-Lindau disease 27 trials
Specific language impairment 26 trials Sub-types →
Stutter disorder 22 trials Sub-types →
Moyamoya disease 20 trials Sub-types →
Angelman syndrome 19 trials Sub-types →
Cerebral amyloid angiopathy 16 trials · 17 incl. sub-types Sub-types →
Li-Fraumeni syndrome 16 trials
Childhood apraxia of speech 16 trials
Intracranial berry aneurysm 12 trials Sub-types →
Progressive myoclonus epilepsy 5 trials · 12 incl. sub-types Sub-types →
DiGeorge syndrome 11 trials
Major affective disorder 6 11 trials
Auditory neuropathy 7 trials · 11 incl. sub-types Sub-types →
Spastic quadriplegic cerebral palsy 10 trials Sub-types →
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 Sub-types →
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 0 trials · 8 incl. sub-types Sub-types →
Red-green color blindness 7 trials
Duane retraction syndrome 6 trials Sub-types →
Arthrogryposis 4 trials · 6 incl. sub-types Sub-types →
Undetermined early-onset epileptic encephalopathy 1 trial · 6 incl. sub-types Sub-types →
Inborn aminoacylase deficiency 0 trials · 6 incl. sub-types Sub-types →
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
Narcolepsy 1 5 trials
Nevoid basal cell carcinoma syndrome 5 trials Sub-types →
GLUT1 deficiency syndrome 4 trials · 5 incl. sub-types Sub-types →
Congenital nystagmus 4 trials · 5 incl. sub-types Sub-types →
Congenital stationary night blindness 2 trials · 5 incl. sub-types Sub-types →
Qualitative or quantitative defects of beta-sarcoglycan 0 trials · 5 incl. sub-types Sub-types →
Corpus callosum, agenesis of 4 trials Sub-types →
Glutaryl-CoA dehydrogenase deficiency 4 trials
Velocardiofacial syndrome 4 trials
TTN-related myopathy 2 trials · 4 incl. sub-types Sub-types →
Qualitative or quantitative defects of gamma-sarcoglycan 1 trial · 4 incl. sub-types Sub-types →
Hoyeraal-Hreidarsson syndrome 3 trials
Riley-Day syndrome 3 trials
Bilirubin encephalopathy 3 trials Sub-types →
Familial congenital mirror movements 3 trials Sub-types →
Megalencephaly-capillary malformation-polymicrogyria syndrome 3 trials
Pyridoxine-dependent epilepsy 3 trials Sub-types →
Encephalopathy, acute, infection-induced 2 trials · 3 incl. sub-types Sub-types →
TPM2-related myopathy 1 trial · 3 incl. sub-types Sub-types →
Congenital hydrocephalus 1 trial · 3 incl. sub-types Sub-types →
Pontocerebellar hypoplasia 1 trial · 3 incl. sub-types Sub-types →
Familial porencephaly 0 trials · 3 incl. sub-types Sub-types →
Inherited reflex epilepsy 0 trials · 3 incl. sub-types Sub-types →
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 0 trials · 3 incl. sub-types Sub-types →
Qualitative or quantitative defects of alpha-sarcoglycan 0 trials · 3 incl. sub-types Sub-types →
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 Sub-types →
Pyridoxal phosphate-responsive seizures 2 trials
Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types Sub-types →
ATP1A3-associated neurological disorder 0 trials · 2 incl. sub-types Sub-types →
PAX6-related ocular dysgenesis 0 trials · 2 incl. sub-types Sub-types →
SPAST-related motor disorder 0 trials · 2 incl. sub-types Sub-types →
Leukoencephalopathy, megalencephalic 0 trials · 2 incl. sub-types Sub-types →
Qualitative or quantitative defects of delta-sarcoglycan 0 trials · 2 incl. sub-types Sub-types →
Retinal ciliopathy 0 trials · 2 incl. sub-types Sub-types →
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 Sub-types →
Anencephaly 1 trial Sub-types →
Bilateral striopallidodentate calcinosis 1 trial Sub-types →
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 Sub-types →
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 Sub-types →
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 Sub-types →
Myoclonus, familial 1 trial Sub-types →
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 Sub-types →
PRRT2-associated paroxysmal movement disorder 0 trials · 1 incl. sub-types Sub-types →
Familial hemiplegic migraine 0 trials · 1 incl. sub-types Sub-types →
Familial periodic paralysis 0 trials · 1 incl. sub-types Sub-types →
Myopathy caused by variation in POMGNT1 0 trials · 1 incl. sub-types Sub-types →
Neuromuscular disease caused by qualitative or quantitative defects of plectin 0 trials · 1 incl. sub-types Sub-types →
Neuromuscular disease caused by qualitative or quantitative defects of telethonin 0 trials · 1 incl. sub-types Sub-types →
Qualitative or quantitative defects of desmin 0 trials · 1 incl. sub-types Sub-types →
Severe congenital nemaline myopathy 0 trials · 1 incl. sub-types Sub-types →
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 Sub-types →
Frey syndrome 0 trials
Griscelli syndrome type 1 0 trials
HSD10 mitochondrial disease 0 trials Sub-types →
Johanson-Blizzard syndrome 0 trials
KIF5A-related neurological disorder 0 trials Sub-types →
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 Sub-types →
Ritscher-Schinzel syndrome 0 trials Sub-types →
SERAC1-related neurological disorder 0 trials Sub-types →
SLC39A8-CDG 0 trials
SLC6A3-related dopamine transporter deficiency syndrome 0 trials Sub-types →
TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
TUBB3-related tubulinopathy 0 trials Sub-types →
Uner Tan Syndrome 0 trials
VPS11-related neurological disorder 0 trials Sub-types →
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 Sub-types →
Angioid streaks 0 trials Sub-types →
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 Sub-types →
Benign neonatal seizures 0 trials Sub-types →
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 Sub-types →
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 Sub-types →
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 Sub-types →
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 Sub-types →
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 Sub-types →
Epilepsy, familial adult myoclonic 0 trials Sub-types →
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 Sub-types →
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 Sub-types →
Hereditary hyperekplexia 0 trials Sub-types →
Hereditary progressive chorea without dementia 0 trials
Holoprosencephaly 0 trials Sub-types →
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 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 Sub-types →
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 Sub-types →
Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 0 trials Sub-types →
Neuromuscular disease caused by qualitative or quantitative defects of perlecan 0 trials Sub-types →
Neuroocular syndrome 0 trials Sub-types →
Occipital pachygyria and polymicrogyria 0 trials
Oculocerebrocutaneous syndrome 0 trials
Orofaciodigital syndrome type 6 0 trials
Parietal foramina 0 trials Sub-types →
Parkinsonism with polyneuropathy 0 trials
Paroxysmal extreme pain disorder 0 trials
Periventricular nodular heterotopia 0 trials Sub-types →
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 Sub-types →