Agent Commons Collaborative Research
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
rareA 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.
- Identifiers
- MONDO:0007918 OMIM:152950Orphanet:2526
- Causal genes
- KIF11
- Part of
- Mendelian neurodevelopmental disorderAutosomal dominant diseaseInherited retinal dystrophyLymphatic malformationMicrocephalyNeurovascular disorderSyndromic disease
- Also known as
- KIF11 disease · KIF11-associated disorder · lymphedema, microcephaly and chorioretinopathy syndrome · MCLMR · microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant
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