RS863225264 MTOR
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What This Variant Does
"CLNSIG=5
Associated Conditions
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Inborn genetic diseases
Severe intellectual disability
Isolated focal cortical dysplasia type II
CEBALID syndrome
Rare genetic intellectual disability
Intellectual disability
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Inborn genetic diseases
Severe intellectual disability
Isolated focal cortical dysplasia type II
CEBALID syndrome
Rare genetic intellectual disability
Intellectual disability
Other Variants in MTOR