Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

MONDO:0007918

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.

Also known as: KIF11-associated disorder, MCLMR, MLCRD, MLCRD syndrome, lymphedema, microcephaly and chorioretinopathy syndrome, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, microcephaly, lymphedema, chorioretinal dysplasia syndrome

26 clinical trials for this condition and its sub-types, 0 tagged with Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability itself.

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