RS376699648 TBCK

Health Risk Chr 4:106235355
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What This Variant Does
"CLNSIG=5
Associated Conditions
Hypotonia
infantile
with psychomotor retardation and characteristic facies 3
Syndromic Infantile Encephalopathy
TBCK-related disorder
Hypotonia
infantile
with psychomotor retardation and characteristic facies 3
Syndromic Infantile Encephalopathy
TBCK-related disorder
Other Variants in TBCK
rs374319146 rs575822089 rs869320769 rs62321379 rs771481304 rs746860249 rs1057518332 rs34840340 rs762552974 rs1131691329
Ask Dr. Hemsworth about this variant