Condition: Sensorineural hearing loss, bilateral


rs527656756 in MTA3;HAAO gene and Sensorineural hearing loss, bilateral PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs201257588 in TBC1D24 gene and Sensorineural hearing loss, bilateral PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

rs797044484 in TP63 gene and Sensorineural hearing loss, bilateral PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.