PDZD7, PDZ domain containing 7, 79955

N. diseases: 45; N. variants: 10
Disease: Severe sensorineural hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021533
Disease: Severe sensorineural hearing impairment
Severe sensorineural hearing impairment 		0.010 GeneticVariation disease BEFREE This report describes a validating second case for biallelic mutations in PDZD7 causing nonsyndromic mild to severe sensorineural hearing loss. 26849169 2018