Cataract-ataxia-deafness syndrome

Orpha code: 1368OMIM code: 212710

Definition

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
Classification

Disease

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

No additional description.

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