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2.

#119600 - CLEIDOCRANIAL DYSPLASIA 1; CLCD1

CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED

Cytogenetic locations: 10545612

3.

#241500 - HYPOPHOSPHATASIA, INFANTILE; HPPI

HYPOPHOSPHATASIA, PERINATAL LETHAL, INCLUDED; HPPN, INCLUDED

Cytogenetic locations: 18386808

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8.

#101600 - PFEIFFER SYNDROME

CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED

Cytogenetic locations: 17120318

9.
10.

#236200 - HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED

Cytogenetic locations: 11596648

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