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Items: 2

1.

Absence deformity of leg-cataract syndrome

A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. [from ORDO]

MedGen UID:
343374
Concept ID:
C1855523
Disease or Syndrome
2.

Duplication involving bones of the feet

MedGen UID:
870146
Concept ID:
C4024578
Anatomical Abnormality

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