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Article

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.

European journal of medical genetics - 1 Aug 2015

Horn Denise, Prescott Trine, Houge Gunnar, Brække Kristin, Rosendahl Karen, Nishimura Gen, FitzPatrick David R, Spranger Jürgen

Abstract excerpt

We describe a novel recognizable phenotype characterized by anophthalmia, a distinctive skeletal dysplasia and intellectual disability. Radiographic anomalies include severe rhizomelic shortness of the limbs and abnormal joint formation. Recent exome studies showed that these characteristics are part of the phenotypic spectrum of MAB21L2 gene mutations which cause a range of structural eye malformations such as...

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PMID: 26116559
DOI: 10.1016/j.ejmg.2015.06.003

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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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