Features include always present findings: Hydrocephalus, Enlarged brain ventricles (ventriculomegaly), and Lissencephaly; and common findings: Seizure, Macrocephaly, and Chorioretinal coloboma. 30 total HPO annotations.

MPDZ encodes multiple PDZ domain crumbs cell polarity complex component (2,070 aa). Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses. Promotes clustering of HT2RC at the cell surface Highest expression in Artery Tibial (48.8 TPM) and Artery Aorta (41.1 TPM).

Hydrocephalus, nonsyndromic, autosomal recessive 2 is associated with mutations in the MPDZ gene on chromosome 9.

MPDZ is classified as a druggable target with score 0.0.

Genetic testing for MPDZ is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hydrocephalus, nonsyndromic, autosomal recessive 2 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 3 common features.

No clinical trials have been registered for hydrocephalus, nonsyndromic, autosomal recessive 2.

147 publications have been identified in PubMed for hydrocephalus, nonsyndromic, autosomal recessive 2. Research spans Review / Meta-Analysis (33%), Epidemiology / Natural History (30%), and Clinical Trial Publication (12%).