RS2130626601 POMK

Health Risk Chr 8:43122275
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Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type a
12
Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type a
12
Limb-girdle muscular dystrophy due to POMK deficiency
Other Variants in POMK
rs397509385 rs397509386 rs587777423 rs606231306 rs199756983 rs886041651 rs143957574 rs146303063 rs149297443 rs200742772
Ask Dr. Hemsworth about this variant