RS587777893 MTOR
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Associated Conditions
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Isolated focal cortical dysplasia type II
MTOR-related megalencephaly and pigmentary mosaicism in skin
Isolated focal cortical dysplasia type II
CEBALID syndrome
MTOR-related disorder
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Isolated focal cortical dysplasia type II
MTOR-related megalencephaly and pigmentary mosaicism in skin
Isolated focal cortical dysplasia type II
CEBALID syndrome
Other Variants in MTOR