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