periventricular heterotopia with microcephaly, autosomal recessive
MONDO:0011966Mondo
Findings
No curated finding names periventricular heterotopia with microcephaly, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
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.
- Global developmental delayHPOHP:0001263
- Periventricular heterotopiaHPOHP:0007165
- SeizureHPOHP:0001250
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.
- ARFGEF2HGNC:15853
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of