Cataract-ataxia-deafness syndrome

Orpha code: 1368OMIM code: 212710

Definicja

A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.

Disease data
Klasyfikacja

Disease

Synonimy
Cataract-ataxia-hearing loss syndrome
Kod ORPHA
1368
Kod OMIM
212710
Kod ICD10
G11.2
Kod ICD11
LD2H.Y

No additional description.

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