RS587777900 MTOR
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What This Variant Does
"CLNSIG=4
Associated Conditions
CEBALID syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Inborn genetic diseases
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
CEBALID syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Inborn genetic diseases
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Other Variants in MTOR