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dysmorphism-short stature-deafness-disorder of sex development syndrome

Disease Summary
Associated Targets ()

Mondo Description Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.
Mondo Term and Equivalent IDs
MONDO:0016433:  dysmorphism-short stature-deafness-disorder of sex development syndrome
Orphanet:2282: 
UMLS:CN201392: