Skip to main content

RareConnect.ioRare Intelligence

Explore Data Discover Patient Groups News Partner

Sign In Sign Up

Explore Data Patient Groups News Partner

RareConnect.ioRare Intelligence

Combining the speed of AI with the wisdom of the community to build the world's most accurate disease registry.

Explore

Disease Directory
Patient Groups
News
FAQ
MONDO Ontology ↗

Get Involved

Partner with Us
Register Your PAG
Community
Pricing

Legal

Privacy Policy
Terms of Service
Accessibility
Contact Us

© 2025 RareConnect.io. Powered by MONDO Ontology

megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | RareConnect | RareConnect.io

/megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

/AKT3-related overgrowth spectrum

/megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

Rare Disease

MONDO:0014407

Also Known As

AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromemegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3MPPH2

Definition

Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:615937 ↗

GARD

Related Diseases

megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

MONDO:0011313

megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3

MONDO:0014408

← Back to All Diseases