You are using an outdated browser. Please upgrade your browser to improve your experience.

megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.
Uniprot Description A syndrome characterized by megalencephaly, ventriculomegaly that may lead to hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome.
Mondo Term and Equivalent IDs
MONDO:0014408:  megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
UMLS:C4014742: