megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Findings
No curated finding names megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011313), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typically de novo
HPO, annotations 2026-09-02
Features
5 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
- 13 of 13 reported patients
- PolymicrogyriaHPOHP:0002126
- 13 of 13 reported patients
- VentriculomegalyHPOHP:0002119
- 13 of 13 reported patients
- OvergrowthHPOHP:0001548
- 2 of 11 reported patients
- Postaxial polydactylyHPOHP:0100259
- 2 of 13 reported patients · Congenital onset
Genes
2 genes
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.
- PIK3R2HGNC:8980
- Definitive · Illumina · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- AKT3HGNC:393
- Strong · G2P · Autosomal dominant · 2015
Where it sits
Other names
3 names
Resolves to: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
- Also called
- megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome