/microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Rare Disease

MONDO:0007918

Also Known As

KIF11-associated disorderMCLMRMLCRDMLCRD syndromechorioretinal dysplasia-microcephaly-mental retardation syndromelymphedema and retinal folds with ficrocephaly and microphthalmoslymphedema, microcephaly and chorioretinopathy syndromemicrocephaly lymphedema chorioretinal dysplasiamicrocephaly with or without chorioretinopathy, lymphedema, or intellectual disabilitymicrocephaly with or without chorioretinopathy, lymphedema, or mental retardationmicrocephaly, lymphedema, chorioretinal dysplasia syndromeKIF11 diseasemicrocephaly and chorioretinopathy with or without mental retardation, autosomal dominant

Definition

A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.