Details of Disease | DrugMAP

General Information of Disease (ID: DISTRJXA)

Disease Name	Hiatt-Neu-Cooper neurodevelopmental syndrome
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISTRJXA: Hiatt-Neu-Cooper neurodevelopmental syndrome
Disease Identifiers	MONDO ID MONDO_0859142 UMLS CUI C5543338 OMIM ID 619311 MedGen ID 1785187

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
RALA	OT734R7X	Strong	Autosomal dominant	[1]
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References

1	De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov.