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cataract-deafness-hypogonadism syndrome

Disease Summary
Associated Targets ()

Mondo Description Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.
Mondo Term and Equivalent IDs
MONDO:0015325:  cataract-deafness-hypogonadism syndrome
MESH:C536626: 
Orphanet:1383: 
SCTID:722378009: