RS137852959 PANK2
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What This Variant Does
"[OMIM:?]
Associated Conditions
Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia
acanthocytosis
retinitis pigmentosa
and pallidal degeneration
Inborn genetic diseases
Retinitis pigmentosa
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Pigmentary pallidal degeneration
Hypoprebetalipoproteinemia
acanthocytosis
retinitis pigmentosa
and pallidal degeneration
Inborn genetic diseases
Retinitis pigmentosa
Other Variants in PANK2