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Items: 3

1.

Oculootoradial syndrome

IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007). [from OMIM]

MedGen UID:
233003
Concept ID:
C1327918
Disease or Syndrome
2.

Multiple synostoses syndrome 3

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene. [from MONDO]

MedGen UID:
414116
Concept ID:
C2751826
Disease or Syndrome
3.

Limited interphalangeal movement

MedGen UID:
374383
Concept ID:
C1840089
Finding
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