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Warburg micro syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.
Uniprot Description A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.
Mondo Term and Equivalent IDs
MONDO:0013641:  Warburg micro syndrome 2
UMLS:C3280214: