Disease Term Disease ID Gene Symbol Classification References Source
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS C3280556 MYH14 Causal Pathogenic evidence from ClinVar 21480433, 26257172, 27875632, 30373780 ClinVar
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 397744 MYH14 Causal Pathogenic evidence from ClinVar - ClinVar