Perrault syndrome

Orpha code: 2855OMIM code: 617565

Definition

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
Classification

Disease

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl