Nestor-Guillermo progeria syndrome
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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015333
progeroid syndrome
is_a
MONDO:0019707
primary osteolysis
is_a
BANF1-related neurodevelopmental syndrome
exact
NGPS
exact
Nestor-Guillermo progeria syndrome
exact
PSCOO
related