RS786205165 MTOR
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What This Variant Does
"CLNSIG=5
Associated Conditions
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
CEBALID syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
CEBALID syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Other Variants in MTOR