Disorder in which the cause of disease is a variation in the POLR1C gene.
Comprehensive, easy-to-understand information about this condition
Checking for content...
No external resources available.
inherited bleeding disorder, platelet-type
MONDO:0000009
infantile liver failure
MONDO:0000023
febrile seizures, familial
MONDO:0000032
hereditary hypophosphatemic rickets
MONDO:0000044
hypothyroidism, congenital, nongoitrous
MONDO:0000045
isolated microphthalmia
MONDO:0000062