Gene Symbol:
MTOR
HGNC:3942
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p36.22
Filters:

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome classifications

macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Submitted as: OMIM:616638
AD
07/22/2015
Evaluated
09/11/2023
Submitted
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Submitted as: OMIM:616638
AD
09/01/2022
Evaluated
11/30/2023
Submitted
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Submitted as: Orphanet:457485
AD
09/14/2021
Evaluated
09/14/2021
Submitted
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Submitted as: OMIM:616638
AD
03/17/2021
Evaluated
10/27/2022
Submitted

Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes classifications

overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
AD
07/29/2021
Evaluated
04/21/2024
Submitted

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