Wolfram syndrome 1, OMIM#222300: OMIM: Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses.
Deafness, autosomal dominant 6/14/38, OMIM #600965: non syndromic low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected.
ldingemans
commented
1 year ago
Wolfram syndrome 1, OMIM#222300: OMIM: Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses.
Deafness, autosomal dominant 6/14/38, OMIM #600965: non syndromic low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected.
both caused by pathogenic variants in WFS1