hydrocephalus, congenital, 3, with brain anomalies
MONDO:0054794Mondo
Findings
No curated finding names hydrocephalus, congenital, 3, with brain anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- HydrocephalusHPOHP:0000238
- 4 of 5 reported patients
- Cerebellar agenesisHPOHP:0012642
- 2 of 5 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 5 reported patients
- Dandy-Walker malformationHPOHP:0001305
- 1 of 5 reported patients
- HoloprosencephalyHPOHP:0001360
- 1 of 5 reported patients
- HydranencephalyHPOHP:0002324
- 1 of 5 reported patients
- PolyhydramniosHPOHP:0001561
- 1 of 5 reported patients
- Redundant neck skinHPOHP:0005989
- 1 of 5 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 5 reported patients
- Abnormal facial shapeHPOHP:0001999
- Brain atrophyHPOHP:0012444
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.
- WDR81HGNC:26600
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of