RS587777182 PNPLA6
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What This Variant Does
"CLNSIG=5
Associated Conditions
Ataxia-hypogonadism-choroidal dystrophy syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Hereditary spastic paraplegia 39
Other Variants in PNPLA6