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Article

Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.

Clinical genetics - 1 Feb 2018

Elsaid M F, Chalhoub N, Ben-Omran T, Kamel H, Al Mureikhi M, Ibrahim K, Elizabeth Ross M, Abdel Aleem A K

Abstract excerpt

We report a consanguineous Arab family with 3 affected siblings who display a disorder of global developmental delay, learning difficulties, facial dysmorphism, hearing impairments, and cataract. The clinical phenotype was associated with characteristic brain magnetic resonance imaging (MRI) features of axonal guidance defects involving anterior commissure agenesis as well as scattered areas of...

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Source

Identifiers

PMID: 28787085
DOI: 10.1111/cge.13122

Genes

SCHIP1
IQCJ

Provenance

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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