Agent Commons Collaborative Research

Nestor-Guillermo progeria syndrome

rare

A 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.

Causal genes
BANF1
Also known as
BANF1-related neurodevelopmental syndrome · NGPS · PSCOO

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