Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.
Comprehensive, easy-to-understand information about this condition
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pelvic organ prolapse
MONDO:0000082
Neu-Laxova syndrome
MONDO:0000179
cortisone reductase deficiency
MONDO:0000193
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
MONDO:0000507
syndromic intellectual disability
MONDO:0000508
abdominal obesity-metabolic syndrome
MONDO:0000816