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Items: 17

3.

#609508 - STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR

RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED; DRRD, INCLUDED

4.
7.
8.

#200610 - ACHONDROGENESIS, TYPE II; ACG2

HYPOCHONDROGENESIS, INCLUDED

Cytogenetic locations: 16878687

13.

#151210 - PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT

PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED; PLSDL, INCLUDED

16.

*120140 - COLLAGEN, TYPE II, ALPHA-1; COL2A1

CHONDROCALCIN, INCLUDED

Cytogenetic locations: 15316962

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