Name
Schwartz-Jampel Syndrome, Type 1
Synonmys
CHONDRODYSTROPHIC MYOTONIA ,
MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES ,
SCHWARTZ-JAMPEL SYNDROME; SJS ,
SCHWARTZ-JAMPEL-ABERFELD SYNDROME ,
SJA SYNDROME
Classification
bone,
developmental,
eye,
genetic,
neurological
Associated Genes
HSPG2
(Withdrawn symbols:
PRCAN,
SJS1,
perlecan
)
Mouse Orthologs
Hspg2
(Withdrawn symbols:
AI852380,
Plc
)
Source
OMIM:255800 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)