megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
MONDO:0014407Mondo
Findings
No curated finding names megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 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 AKT3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014407), read 2026-09-29. CC BY 4.0.
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.
- AKT3HGNC:393
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Also called
- AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromemegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3