hydrocephalus, congenital, 5, susceptibility to
MONDO:0859376Mondo
Findings
No curated finding names hydrocephalus, congenital, 5, susceptibility to yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aqueductal stenosisHPOHP:0002410
- Noncommunicating hydrocephalusHPOHP:0010953
Genes
1 gene
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.
- SMARCC1HGNC:11104
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of