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Items: 2

1.

Ophthalmomandibulomelic dysplasia

Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested. [from SNOMEDCT_US]

MedGen UID:
331604
Concept ID:
C1833872
Disease or Syndrome
2.

Decreased mobility 3rd-5th fingers

MedGen UID:
331609
Concept ID:
C1833882
Finding

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