RS143917509 B3GALNT2;TBCE

Health Risk Chr 1:235448414

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Associated Conditions

Hypoparathyroidism-retardation-dysmorphism syndrome

Encephalopathy

progressive

with amyotrophy and optic atrophy

Autosomal recessive Kenny-Caffey syndrome

Hypoparathyroidism-retardation-dysmorphism syndrome

Encephalopathy

progressive

with amyotrophy and optic atrophy

Autosomal recessive Kenny-Caffey syndrome

Ask Dr. Hemsworth about this variant