Details of Disease | DrugMAP

General Information of Disease (ID: DISO4YJO)

Disease Name	Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
Disease Hierarchy	DISPN7D2: Inherited neurodegenerative disorder DISO4YJO: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
Disease Identifiers	MONDO ID MONDO_0957225 UMLS CUI C5830433 OMIM ID 620327 MedGen ID 1841069

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
MED11	OTBXTVGO	Strong	Autosomal recessive	[1]
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References

1	A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24.