Deafness_IsolatedAndComplex
Gene: DHRSX
PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.
Gene in PAR.
Sources: LiteratureCreated: 22 Oct 2024, 9:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type 1DD, MIM# 301133
Publications
Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to Congenital disorder of glycosylation, type 1DD, MIM# 301133
Gene: dhrsx has been classified as Green List (High Evidence).
Gene: dhrsx has been classified as Green List (High Evidence).
gene: DHRSX was added gene: DHRSX was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHRSX were set to 38821050 Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related Review for gene: DHRSX was set to GREEN