RS191875469 POLR3A
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Associated Conditions
Neonatal pseudo-hydrocephalic progeroid syndrome
Leukodystrophy
hypomyelinating
7
with or without oligodontia and/or hypogonadotropic hypogonadism
POLR3A-related neurological disorders
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Inborn genetic diseases
POLR-related leukodystrophy
POLR3A-related disorder
Spastic ataxia
Movement disorder
Hereditary ataxia
Neonatal pseudo-hydrocephalic progeroid syndrome
Leukodystrophy
Other Variants in POLR3A