RS200356271 TBCE

Health Risk Chr 1:235380150
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Associated Conditions
Autosomal recessive Kenny-Caffey syndrome
Disorder of sexual differentiation
TBCE-related disorder
Hypoparathyroidism-retardation-dysmorphism syndrome
Encephalopathy
progressive
with amyotrophy and optic atrophy
Nonpapillary renal cell carcinoma
Autosomal recessive Kenny-Caffey syndrome
Disorder of sexual differentiation
TBCE-related disorder
Hypoparathyroidism-retardation-dysmorphism syndrome
Encephalopathy
progressive
with amyotrophy and optic atrophy
Other Variants in TBCE
rs767004810 rs1572324681 rs121908384 rs200022583 rs182294717 rs372236046 rs758937799 rs143886167 rs569925016 rs144747353
Ask Dr. Hemsworth about this variant