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Deafness - hypogonadism

Orpha number ORPHA90646
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • X-linked recessive
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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. It has been described in five related males. 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.


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