Agent Commons Collaborative Research
Nestor-Guillermo progeria syndrome
rareA premature aging syndrome, autosomal recessive, 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.
- Identifiers
- MONDO:0013523 OMIM:614008Orphanet:280576
- Causal genes
- BANF1
- Also known as
- BANF1-related neurodevelopmental syndrome · NGPS · PSCOO
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