RS201314157 POLR3A
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Associated Conditions
Leukodystrophy
hypomyelinating
7
with or without oligodontia and/or hypogonadotropic hypogonadism
Neonatal pseudo-hydrocephalic progeroid syndrome
POLR-related leukodystrophy
POLR3A-related disorder
Adult onset hereditary spastic paraplegia
Intellectual disability
Familial cancer of breast
Leukodystrophy
hypomyelinating
7
with or without oligodontia and/or hypogonadotropic hypogonadism
Neonatal pseudo-hydrocephalic progeroid syndrome
Other Variants in POLR3A