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tetraamelia-multiple malformations syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
Mondo Term and Equivalent IDs
MONDO:0010110:  tetraamelia-multiple malformations syndrome
GARD:0000386: 
MESH:C536500: 
Orphanet:3301: 
SCTID:716249009: 
UMLS:C2931218: