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Article

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

European journal of human genetics : EJHG - 1 May 2015

Kolanczyk Mateusz, Krawitz Peter, Hecht Jochen, Hupalowska Anna, Miaczynska Marta, Marschner Katrin, Schlack Claire, Emmerich Denise, Kobus Karolina, Kornak Uwe, Robinson Peter N, Plecko Barbara, Grangl Gernot, Uhrig Sabine, Mundlos Stefan, Horn Denise

Abstract excerpt

Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. A recent study of a Canadian cohort identified homozygous sequence variants in the KIAA0196 gene, which encodes the WASH complex subunit...

Topics

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Abnormalities, Multiple
Comparative Genomic Hybridization
Craniofacial Abnormalities
Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genes, X-Linked

Heart Septal Defects, Atrial

Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 24916641
DOI: 10.1038/ejhg.2014.109
PMCID: PMC4402616

Genes

CCDC22

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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