Human Disease and Mouse Model Detail

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Human Disease

Term: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome;
OMIM ID: 603387

Synonyms

Megalencephaly, Mega Corpus Callosum, and Complete Lack of Motor Development; Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome; Meg-Pmg-Megacc Syndrome; Mpph

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Akt3	AKT3
Pik3r2	PIK3R2

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12