RS760474458 TBC1D24
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What This Variant Does
"CLNSIG=5
Associated Conditions
DOORS syndrome
Developmental and epileptic encephalopathy
1
Autosomal dominant nonsyndromic hearing loss 65
Developmental and epileptic encephalopathy
1
Autosomal dominant nonsyndromic hearing loss 65
Caused by mutation in the TBC1 domain family
member 24
Abnormality of the nervous system
DOORS syndrome
Developmental and epileptic encephalopathy
1
Autosomal dominant nonsyndromic hearing loss 65
Developmental and epileptic encephalopathy
Other Variants in TBC1D24