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short stature-webbed neck-heart disease syndrome

Disease Summary
Associated Targets ()

Mondo Description Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.
Mondo Term and Equivalent IDs
MONDO:0017315:  short stature-webbed neck-heart disease syndrome
GARD:0000583: 
MESH:C535613: 
Orphanet:2865: 
SCTID:721073008: 
UMLS:C2930950: