Deafness-hypogonadism syndrome
ORPHA:90646· ICD-10 H90.6
Definition
A rare syndromic genetic deafness characterized by progressive X-linked mixed deafness with with perilymphatic gusher, hypogonadism and abnormal behavior (including antisocial and immature behaviors). Partial heterochromia iridis may also be present in some patients. There have been no further descriptions in the literature since 1992.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal