Mental retardation, failure to thrive, hypotonia, and delayed psychomotor development with absent or poor expressive language, mild dysmorphic features - 2 cases with CSS; Miller JMedGenet 17 and Ritter AmJMedGenet 18 ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Xia-Gibbs syndrome - 615829
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: AHDC1; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Xia-Gibbs syndrome 615829 for gene: AHDC1
gene: AHDC1 was added gene: AHDC1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: AHDC1 was set to