Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

doi:10.1038/ejhg.2013.263

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Article

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

European journal of human genetics : EJHG - 1 Jul 2014

Jones Gabriela E, Ostergaard Pia, Moore Anthony T, Connell Fiona C, Williams Denise, Quarrell Oliver, Brady Angela F, Spier Isabel, Hazan Filiz, Moldovan Oana, Wieczorek Dagmar, Mikat Barbara, Petit Florence, Coubes Christine, Saul Robert A, Brice Glen, Gordon Kristiana, Jeffery Steve, Mortimer Peter S, Vasudevan Pradeep C, Mansour Sahar

Abstract excerpt

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (KIF11) gene have now been described in 16 families worldwide. This is a review of the condition based on the clinical features of 37 individuals from 22 families. This...

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Identifiers

PMID: 24281367
DOI: 10.1038/ejhg.2013.263
PMCID: PMC3938398

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KIF11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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