Details of Disease | DrugMAP

General Information of Disease (ID: DIS2S8FC)

Disease Name	Neurodevelopmental disorder with central hypotonia and dysmorphic facies
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DIS2S8FC: Neurodevelopmental disorder with central hypotonia and dysmorphic facies
Disease Identifiers	MONDO ID MONDO_0859232 UMLS CUI C5676944 OMIM ID 619797 MedGen ID 1807420

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HDAC4	TTTQGH8	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HDAC4	OTQNGD32	Strong	Autosomal dominant	[1]
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References

1	Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. HGG Adv. 2021 Jan 14;2(1):100015. doi: 10.1016/j.xhgg.2020.100015.