RS150418024 MFSD8
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What This Variant Does
"CLNSIG=5
Associated Conditions
Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis
Inborn genetic diseases
MFSD8-related disorder
Optic atrophy
Retinal dystrophy
Retinal disorder
Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis 7
Late-infantile neuronal ceroid lipofuscinosis
Inborn genetic diseases
MFSD8-related disorder
Optic atrophy
Retinal dystrophy
Other Variants in MFSD8