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Items: 3

1.

Chromosome 2p12-p11.2 deletion syndrome

MedGen UID:
462154
Concept ID:
C3150804
Disease or Syndrome
2.

Clinodactyly of the 4th finger

MedGen UID:
868093
Concept ID:
C4022484
Congenital Abnormality
3.

Marshall syndrome

Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009). [from OMIM]

MedGen UID:
82694
Concept ID:
C0265235
Disease or Syndrome

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