Version: 8.0.0
Date: Tue Jan 28 2025
Schwartz-Jampel syndrome 1
DOID:0090005
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Schwartz-Jampel syndrome 1

Definition
A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
Synonyms
  • Aberfeld syndrome
  • Burton skeletal dysplasia
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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