Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

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Subtype of: Intellectual disability · Macrocephaly
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
EFO_0009050
MTOR Causal
28892148 26018084 26542245 27830187 25878179
Open Targets
EGFR tyrosine kinase inhibitor resistance Endocrine resistance ErbB signaling pathway +61 more
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome.
5 View disease cluster →
Smith-kingsmore syndrome 1 shared geneMTOR Related via 1 shared gene including MTOR. Cebalid syndrome 1 shared geneMTOR Related via 1 shared gene including MTOR. Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 1 shared geneMTOR Related via 1 shared gene including MTOR. Hemimegalencephaly 1 shared geneMTOR Related via 1 shared gene including MTOR. Cortical dysplasia 1 shared geneMTOR Related via 1 shared gene including MTOR.