hydrocephalus, nonsyndromic, autosomal recessive 2
Findings
No curated finding names hydrocephalus, nonsyndromic, autosomal recessive 2 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 MPDZ gene.
Definition from the Mondo Disease Ontology (MONDO:0014085), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Third trimester onset
HPO, annotations 2026-09-02
Features
13 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 4 reported patients
- VentriculomegalyHPOHP:0002119
- 4 of 4 reported patients
- Chorioretinal colobomaHPOHP:0000567
- 2 of 4 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 2 of 4 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 4 reported patients
- Alternating esotropiaHPOHP:0001137
Show the remaining 1
- Visual impairmentHPOHP:0000505
- 1 of 4 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.
- MPDZHGNC:7208
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- Moderate · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Limited · G2P · Autosomal recessive · 2015
Where it sits
- A kind of
Other names
4 names
Resolves to: hydrocephalus, nonsyndromic, autosomal recessive 2
- Also called
- congenital hydrocephalus caused by mutation in MPDZhydrocephalus, congenital, 2, with or without brain or eye anomalieshydrocephalus, nonsyndromic, autosomal recessive type 2MPDZ congenital hydrocephalus