RS121908681 PLA2G6
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What This Variant Does
"[OMIM:?]
Associated Conditions
Neurodegeneration with brain iron accumulation 2B
Congenital cerebellar hypoplasia
Microcephaly
Cerebellar ataxia
Global developmental delay
Developmental regression
Autosomal recessive Parkinson disease 14
Iron accumulation in brain
Neurodegeneration with brain iron accumulation
Infantile neuroaxonal dystrophy
PLA2G6-associated neurodegeneration
Neurodegeneration with brain iron accumulation 2B
Congenital cerebellar hypoplasia
Microcephaly
Cerebellar ataxia
Other Variants in PLA2G6