Category:Schwartz–Jampel syndrome

**Schwartz-Jampel syndrome 1**
	autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36
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Instance of	developmental defect during embryogenesis; designated intractable/rare disease; rare disease; class of disease;
Subclass of	osteochondrodysplasia; autosomal recessive disease; perlecan-related bone disorder; qualitative or quantitative defects of perlecan; myotonia congenita; progressive muscular dystrophy; syndromic myopia; syndrome;
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	Q9390341;
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