Details of Disease | DrugMAP

General Information of Disease (ID: DISUEV69)

Disease Name	Neurodevelopmental disorder with microcephaly, short stature, and speech delay
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISUEV69: Neurodevelopmental disorder with microcephaly, short stature, and speech delay
Disease Identifiers	MONDO ID MONDO_0859285 UMLS CUI C5774211 OMIM ID 620027 MedGen ID 1823984

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRAPPC10	OTF6EAQX	Strong	Autosomal recessive	[1]
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References

1	Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22.