RS758937799 TBCE

Health Risk Chr 1:235401545
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What This Variant Does
"CLNSIG=4
Associated Conditions
Autosomal recessive Kenny-Caffey syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome
Encephalopathy
progressive
with amyotrophy and optic atrophy
TBCE-related disorder
Autosomal recessive Kenny-Caffey syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome
Encephalopathy
progressive
with amyotrophy and optic atrophy
TBCE-related disorder
Other Variants in TBCE
rs767004810 rs1572324681 rs121908384 rs200022583 rs182294717 rs372236046 rs143886167 rs569925016 rs144747353 rs143717755
Ask Dr. Hemsworth about this variant