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Article

Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.

American journal of medical genetics. Part A - 1 Nov 2022

Rodgers Jonathan, Richmond Christopher M, McGaughran Julie

Abstract excerpt

Pathogenic variants in CCDC22 were initially described in 2012 in a large Australian family with intellectual disability and were subsequently noted to cause a phenotype consistent with the previously described Ritscher-Schinzel syndrome (RSS). The phenotypes of the original family were not described in detail and remains limited phenotypic data reported in medical literature. We detail the phenotypes of the...

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Phenotype
Abnormalities, Multiple
Australia
Craniofacial Abnormalities
Heart Septal Defects, Atrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

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PMID: 36073196
DOI: 10.1002/ajmg.a.62963

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

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