Human genes for Schwartz-Jampel syndrome 1
Schwartz-Jampel syndrome 1 [DOID:0090005]
A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
Synonyms: Schwartz-Jampel syndrome 1, DOID:0090005, SchwartzJampel syndrome 1, Aberfeld syndrome, Burton skeletal dysplasia ...