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Article

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

European journal of human genetics : EJHG - 1 Jan 2009

Kahrizi Kimia, Najmabadi Hossein, Kariminejad Roxana, Jamali Payman, Malekpour Mahdi, Garshasbi Masoud, Ropers Hans Hilger, Kuss Andreas Walter, Tzschach Andreas

Abstract excerpt

We report on three siblings with a novel mental retardation (MR) syndrome who were born to distantly related Iranian parents. The clinical problems comprised severe MR, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. Two patients also had uni- or bilateral iris coloboma. Linkage analysis revealed a single 10.4 Mb interval of...

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Identifiers

PMID: 18781183
DOI: 10.1038/ejhg.2008.159
PMCID: PMC2985958

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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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