A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder.
Comprehensive, easy-to-understand information about this condition
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Neu-Laxova syndrome
MONDO:0000179
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
MONDO:0000507
syndromic intellectual disability
MONDO:0000508
abdominal obesity-metabolic syndrome
MONDO:0000816
fibrogenesis imperfecta ossium
MONDO:0000849
Fanconi renotubular syndrome
MONDO:0001083