Version: 8.0.0
Date: Tue Jan 28 2025
geroderma osteodysplasticum
DOID:0111266
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

geroderma osteodysplasticum

Definition
A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2.
Synonyms
  • geroderma osteodysplastica
  • gerodermia osteodysplastica
Cross References
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