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Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant.

The American journal of case reports - 6 Aug 2026

Alanazi Khalid A, Alosaimi Saad Mutlaq, Alzuabi Asma

Abstract excerpt

BACKGROUND Mutations in the kinesin family member 11 (KIF11) gene have been recently identified in several families worldwide. This gene plays a crucial role in cell division, chromosomal positioning, and separation. KIF11 mutations are associated clinically with microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLMR). It is an autosomal dominant disorder with reduced...

Topics

Humans
Male
Adult
Microcephaly
Kinesins
Intellectual Disability
Lymphedema
Mutation
Tomography, Optical Coherence

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Open in PubMed Open full text

Identifiers

PMID: 42560893
DOI: 10.12659/AJCR.952957
PMCID: PMC13463828

Genes

KIF11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant.PMID 42560893Read ↗

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