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Sifrim-Hitz-Weiss syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description An autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients.
Mondo Term and Equivalent IDs
MONDO:0014946:  Sifrim-Hitz-Weiss syndrome
UMLS:C4310688: