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Article

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

American journal of medical genetics. Part A - 1 Nov 2014

Mirzaa Ghayda M, Enyedi Laura, Parsons Gretchen, Collins Sarah, Medne Livija, Adams Carissa, Ward Thomas, Davitt Bradley, Bicknese Alma, Zackai Elaine, Toriello Helga, Dobyns William B, Christian Susan

Abstract excerpt

The microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a distinct microcephaly syndrome. The hallmark features, microcephaly, chorioretinopathy, and lymphedema are frequently recognized at birth. Another clinical entity, the chorioretinal dysplasia, microcephaly and mental retardation syndrome (CDMMR) is a highly overlapping syndrome characterized by more variable lymphedema. Recently,...

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Identifiers

PMID: 25115524
DOI: 10.1002/ajmg.a.36707
PMCID: PMC4205200

Genes

KIF11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.PMID 25115524Read ↗

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