congenital nervous system disorder
MONDO:0002320Mondo
Findings
No curated finding names congenital nervous system disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An abnormality of the nervous system that is present at birth or detected in the neonatal period.
Definition from the Mondo Disease Ontology (MONDO:0002320), read 2026-09-29. CC BY 4.0.
Genes
2 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
- A kind of
- Narrower terms (218)
- Aase-Smith syndrome
- anencephaly
- autosomal dominant primary microcephaly
- Bailey-Bloch congenital myopathy
- blepharophimosis - intellectual disability syndrome, MKB type
- cerebral cavernous malformation
- channelopathy-associated congenital insensitivity to pain, autosomal recessive
- Chediak-Higashi syndrome
- Cohen syndrome
- congenital contractural arachnodactyly
- congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- congenital myasthenic syndrome 6
- congenital myasthenic syndrome with tubular aggregates
- congenital myopathy 7A, myosin storage, autosomal dominant
- congenital nystagmus
- congenital stationary night blindness 1B
- congenital stationary night blindness autosomal dominant 2
- congenital toxoplasmosis
Other names
1 name
Resolves to: congenital nervous system disorder
- Also called
- congenital abnormality of the nervous system