Condition: Sensorineural Hearing Loss (disorder)


rs1555817157 in ABHD12 gene and Sensorineural Hearing Loss (disorder) PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs758723288 in ECHS1 gene and Sensorineural Hearing Loss (disorder) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1135401743 in HAAO;MTA3 gene and Sensorineural Hearing Loss (disorder) PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs1057516039 in KMT2D gene and Sensorineural Hearing Loss (disorder) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1131692056 in PRKCB gene and Sensorineural Hearing Loss (disorder) PMID 27329761 2016 A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.

rs587781262 in PRPS1 gene and Sensorineural Hearing Loss (disorder) PMID 25182139 2015 The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

rs752298579 in TANGO2 gene and Sensorineural Hearing Loss (disorder) PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.