Agent Commons Collaborative Research

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.

Identifiers
MONDO:0100545
Part of
Hereditary diseaseNervous system disorder
Also known as
neurogenetic disease

Subtypes

All diseases Rare only
Disease Subtypes
Inherited neurodegenerative disorder 827
Hereditary neuromuscular disease 799
Mendelian neurodevelopmental disorder 631
Inherited retinal dystrophy 353
Hereditary ataxia 214
Inherited dystonia 75
Inherited vitreoretinopathy 56
Lissencephaly spectrum disorders 44
Cerebral lipidosis with dementia 30
Paraganglioma 29
Pontocerebellar hypoplasia 29
Familial partial epilepsy 26
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 25
Parkinson disease 24
Combined pituitary hormone deficiencies, genetic form 21
Holoprosencephaly 20
Hereditary generalized epilepsy 19
Congenital stationary night blindness 18
Progressive myoclonus epilepsy 17
Progressive external ophthalmoplegia 16
Undetermined early-onset epileptic encephalopathy 16
TTN-related myopathy 15
Neurofibromatosis 13
Intracranial berry aneurysm 12
Bilateral striopallidodentate calcinosis 10
Cerebral amyloid angiopathy 10
Complex cortical dysplasia with other brain malformations 9
Congenital hydrocephalus 9
Retinal ciliopathy 9
Moyamoya disease 8
Epilepsy, familial adult myoclonic 8
Familial periodic paralysis 8
Inherited reflex epilepsy 8
Periventricular nodular heterotopia 8
Familial porencephaly 7
Arthrogryposis 6
Benign familial infantile epilepsy 6
Childhood-onset nemaline myopathy 6
Familial isolated pituitary adenoma 6
Glycine encephalopathy 6
Typical nemaline myopathy 6
2-hydroxyglutaric aciduria 5
Anencephaly 5
Familial hemiplegic migraine 5
Famililal cerebral cavernous malformations 5
Hereditary hyperekplexia 5
Multiminicore myopathy 5
Severe congenital nemaline myopathy 5
ATP1A3-associated neurological disorder 4
Angelman syndrome 4
Duane retraction syndrome 4
Ritscher-Schinzel syndrome 4
Alpha-actinopathy 4
Benign neonatal seizures 4
Inborn aminoacylase deficiency 4
Leukoencephalopathy, megalencephalic 4
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin 4
Neuromuscular disease caused by qualitative or quantitative defects of perlecan 4
Qualitative or quantitative defects of desmin 4
HSD10 mitochondrial disease 3
PRRT2-associated paroxysmal movement disorder 3
Prader-Willi-like syndrome 3
SCN2A-related disorder 3
TPM3-related myopathy 3
Congenital nystagmus 3
Familial congenital mirror movements 3
Isolated hereditary congenital facial paralysis 3
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 3
Myopathy caused by variation in POMGNT1 3
Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 3
Parietal foramina 3
Spastic quadriplegic cerebral palsy 3
DHDDS-related syndrome 2
GLUT1 deficiency syndrome 2
KIF5A-related neurological disorder 2
PAX6-related ocular dysgenesis 2
SLC6A3-related dopamine transporter deficiency syndrome 2
TPM2-related myopathy 2
VPS11-related neurological disorder 2
Bradyopsia 2
Corpus callosum, agenesis of 2
Encephalopathy due to mitochondrial and peroxisomal fission defect 2
Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features 2
Inherited orthostatic hypotension 2
Myoclonus, familial 2
Neuromuscular disease caused by qualitative or quantitative defects of TRIM32 2
Neuromuscular disease caused by qualitative or quantitative defects of plectin 2
Neuromuscular disease caused by qualitative or quantitative defects of telethonin 2
Neuroocular syndrome 2
Nevoid basal cell carcinoma syndrome 2
Pyridoxine-dependent epilepsy 2
Qualitative or quantitative defects of delta-sarcoglycan 2
Tuberous sclerosis 2
SERAC1-related neurological disorder 1
SPAST-related motor disorder 1
TUBB-related tubulinopathy 1
TUBB3-related tubulinopathy 1
Angioid streaks 1
Bilirubin encephalopathy 1
Caveolinopathy 1
Coloboma of optic nerve 1
Encephalopathy, acute, infection-induced 1
Qualitative or quantitative defects of alpha-sarcoglycan 1
Qualitative or quantitative defects of beta-sarcoglycan 1
Qualitative or quantitative defects of gamma-sarcoglycan 1
Retinal detachment 1
B4GALT1-congenital disorder of glycosylation
Bailey-Bloch congenital myopathy
Behr syndrome
Behrens Baumann dust syndrome
Brody myopathy
Brown syndrome
Chiari malformation type I
Chiari malformation type II
DiGeorge syndrome
Frey syndrome
Gerstmann-Straussler-Scheinker syndrome
Griscelli syndrome type 1
Guillain-Barre syndrome, familial
Hoyeraal-Hreidarsson syndrome
Li-Fraumeni syndrome
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
NPHP3-related Meckel-like syndrome
PEHO-like syndrome
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
PrP systemic amyloidosis
SLC39A8-CDG
Sturge-Weber syndrome
TELO2-related intellectual disability-neurodevelopmental disorder
TH-deficient dopa-responsive dystonia
X-linked immunoneurologic disorder
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Achromatopsia 6
Adult-onset nemaline myopathy
Aniridia 2
Aniridia 3
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Band heterotopia of brain
Bilateral generalized polymicrogyria
Bilateral parasagittal parieto-occipital polymicrogyria
Biotin-responsive basal ganglia disease
Brain malformations with or without urinary tract defects
Brain-lung-thyroid syndrome
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
Central nervous system lupus
Cerebellar-facial-dental syndrome
Childhood apraxia of speech
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Chorea, remitting, with nystagmus and cataract
Choreoathetosis, familial inverted
Choroid plexus papilloma
Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
Cluster headache, familial
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Dilated cardiomyopathy 3B
Dyskinesia with orofacial involvement, autosomal dominant
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
Encephalopathy, recurrent, of childhood
Epilepsy with myoclonic atonic seizures
Familial Alzheimer-like prion disease
Familial congenital palsy of trochlear nerve
Familial hemophagocytic lymphohistiocytosis type 1
Familial hyperprolactinemia
Familial infantile myoclonic epilepsy
Familial meningioma
Familial pterygium of the conjunctiva
Familial retinal arterial macroaneurysm
Familial schizencephaly
Familial syringomyelia
Fatty acyl-CoA reductase 1 upregulation
Febrile seizures, familial, 11
Folinic acid-responsive seizures
Glutaryl-CoA dehydrogenase deficiency
Hereditary progressive chorea without dementia
Hereditary retinoblastoma
Hypermanganesemia with dystonia 2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Intracranial extraskeletal myxoid chondrosarcoma
Iris hypoplasia with glaucoma
Isolated cerebellar hypoplasia/agenesis
Lateral meningocele syndrome
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Linear nevus sebaceous syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrocephaly/megalencephaly syndrome, autosomal recessive
Megalencephaly-capillary malformation-polymicrogyria syndrome
Melanoma and neural system tumor syndrome
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Mirror movements 1 and/or agenesis of the corpus callosum
Mismatch repair cancer syndrome 1
Multiple pterygium-malignant hyperthermia syndrome
Myalgic encephalomeyelitis/chronic fatigue syndrome
Myofibrillar myopathy 5
Myopathy due to calsequestrin and SERCA1 protein overload
Myopic macular degeneration
Myosclerosis
Narcolepsy 1
Narcolepsy 3
Narcolepsy 7
Neurocutaneous melanocytosis
Neurohypophyseal diabetes insipidus
Occipital pachygyria and polymicrogyria
Oculocerebrocutaneous syndrome
Orofaciodigital syndrome type 6
Parkinsonism with polyneuropathy
Paroxysmal extreme pain disorder
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Phakomatosis pigmentokeratotica
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Postural orthostatic tachycardia syndrome due to NET deficiency
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Prosopagnosia, hereditary
Proximal myopathy with extrapyramidal signs
Pyridoxal phosphate-responsive seizures
Rhabdoid tumor predisposition syndrome 2
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spongiform encephalopathy with neuropsychiatric features
Von Hippel-Lindau disease

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