RS199504211 POLR3B
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What This Variant Does
"CLNSIG=5
Associated Conditions
Hypogonadotropic hypogonadism 7 with or without anosmia
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Leukodystrophy
hypomyelinating
7
with or without oligodontia and/or hypogonadotropic hypogonadism
Amenorrhea
See cases
Inborn genetic diseases
POLR-related leukodystrophy
Charcot-Marie-Tooth disease
demyelinating
IIA 1I
Intellectual disability
Hypogonadotropic hypogonadism 7 with or without anosmia
Other Variants in POLR3B