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Deafness-hypogonadism syndrome

Disease definition

This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior.

ORPHA:90646

Classification level: Disorder
  • Synonym(s):
    • Hearing loss-hypogonadism syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: H90.6
  • OMIM: 304350
  • UMLS: C1844680
  • MeSH: -
  • GARD: 1691
  • MedDRA: -

Summary

Epidemiology

It has been described in five related males.

Etiology

Inheritance appeared to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness - hypogonadism is a contiguous gene deletion syndrome.

- Last update: May 2009

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.