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congenital heart defect-round face-developmental delay syndrome

Disease Summary
Associated Targets ()

Mondo Description Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.
Mondo Term and Equivalent IDs
MONDO:0010039:  congenital heart defect-round face-developmental delay syndrome
GARD:0004905: 
MESH:C536680: 
Orphanet:1355: 
SCTID:715987000: 
UMLS:C0796162: