MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Profound sensorineural hearing loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss 		0.010 GeneticVariation disease BEFREE Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2. 28346292 2017