RS374434303 PNPLA6

Health Risk Chr 19:7561509
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What This Variant Does
"CLNSIG=4
Associated Conditions
Hypogonadotropic hypogonadism 7 with or without anosmia
Dysarthria
Cerebellar ataxia
Cerebellar atrophy
Gait ataxia
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
PNPLA6-related disorder
Hypogonadotropic hypogonadism 7 with or without anosmia
Dysarthria
Cerebellar ataxia
Cerebellar atrophy
Gait ataxia
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
Other Variants in PNPLA6
rs121434415 rs121434416 rs606231167 rs587777181 rs606231249 rs587777182 rs587777183 rs587777185 rs587777615 rs587777853
Ask Dr. Hemsworth about this variant