Perrault syndrome

Orpha code: 2855OMIM code: 617565

Definicja

A rare genetic disease characterized by a clinical picture of variable severity associating sensorineural hearing impairment with ovarian dysgenesis in females, sometimes progressive neurologic disorder, and exceptionally renal disease. The disease affects both sexes, but hypogonadism is not a feature in males.

Disease data
Klasyfikacja

Disease

Synonimy
XX gonodal dysgenesis-deafness syndrome
Dysgenezja gonad XX - głuchota
XX gonodal dysgenesis-hearing loss syndrome
Kod ORPHA
2855
Kod OMIM
617565
Kod ICD10
Q87.8
Kod ICD11
LD2H.Y

No additional description.

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