hydrocephalus, nonsyndromic, autosomal recessive 1
Findings
No curated finding names hydrocephalus, nonsyndromic, autosomal recessive 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.
Definition from the Mondo Disease Ontology (MONDO:0009360), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Second trimester onset
HPO, annotations 2026-09-02
Features
3 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
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- VentriculomegalyHPOHP:0002119
- 2 of 2 reported patients
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.
- CCDC88CHGNC:19967
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2016
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: hydrocephalus, nonsyndromic, autosomal recessive 1
- Also called
- CCDC88C congenital hydrocephaluscongenital hydrocephalus caused by mutation in CCDC88Chydrocephalus, congenital, 1hydrocephalus, nonsyndromic, autosomal recessive type 1