RS1057517802 PNPLA6
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What This Variant Does
"CLNSIG=4
Associated Conditions
Hereditary spastic paraplegia 39
Rod-cone dystrophy
Ataxia-hypogonadism-choroidal dystrophy syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Cerebellar ataxia-hypogonadism syndrome
Laurence-Moon syndrome
Hereditary spastic paraplegia 39
Rod-cone dystrophy
Ataxia-hypogonadism-choroidal dystrophy syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Cerebellar ataxia-hypogonadism syndrome
Laurence-Moon syndrome
Other Variants in PNPLA6