hereditary neurological disease
MONDO:0100545Mondo
Findings
No curated finding names hereditary neurological disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100545), read 2026-09-29. CC BY 4.0.
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (257)
- anencephaly
- Angelman syndrome
- arthrogryposis
- Behr syndrome
- bilateral striopallidodentate calcinosis
- cerebral amyloid angiopathy
- Chiari malformation type I
- Chiari malformation type II
- choreoathetosis, familial inverted
- cluster headache, familial
- coloboma of optic nerve
- complex cortical dysplasia with other brain malformations
- congenital nystagmus
- corpus callosum, agenesis of
- craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- DiGeorge syndrome
- Duane retraction syndrome
- encephalopathy, acute, infection-induced
- encephalopathy, recurrent, of childhood
- epilepsy, familial adult myoclonic
Other names
1 name
Resolves to: hereditary neurological disease
- Also called
- neurogenetic disease