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Feingold syndrome type 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.
Uniprot Description A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, mental retardation, and limb malformations. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described.
Mondo Term and Equivalent IDs
MONDO:0008115:  Feingold syndrome type 1
Orphanet:391641: 
SCTID:702431004: 
UMLS:CN204984: