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Stankiewicz-Isidor syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.
Uniprot Description A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems.
Mondo Term and Equivalent IDs
MONDO:0054591:  Stankiewicz-Isidor syndrome
UMLS:C4479599: