Version: 8.0.0
Date: Tue Jan 28 2025
Nestor-Guillermo progeria syndrome
DOID:0081334
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Nestor-Guillermo progeria syndrome

Definition
A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age.
Synonyms
  • Progeria syndrome, childhood-onset, with osteolysis
Cross References
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