Contents

Search

Ehlers-Danlos syndrome progeroid variant (familial joint instability syndrome)

Genetics: - associated with defects in B4GALT7 Clinical manifestations: - progeroid facies - mild mental retardation - short stature - skin hyperextensibility - moderate skin fragility - joint hypermobility principally in digits

Database Correlations

OMIM 130070

References

  1. OMIM :accession 130070
  2. UniProt :accession P15291