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OMIM ID
255800
OMIM term:
SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
Alternative terms:
SCHWARTZ-JAMPEL SYNDROME; SJS
MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES
SCHWARTZ-JAMPEL-ABERFELD SYNDROME
SJA SYNDROME
CHONDRODYSTROPHIC MYOTONIA
(∗) Location:
1p36.12
(†) Associated OMIM genes:
HSPG2
(‡) Associated MGI genes:
Hspg2
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