Details of Disease | DrugMAP

General Information of Disease (ID: DIS7CYZ5)

Disease Name	Developmental delay with variable neurologic and brain abnormalities
Disease Hierarchy	DISYKSRF: Genetic disease DIS7CYZ5: Developmental delay with variable neurologic and brain abnormalities
Disease Identifiers	MONDO ID MONDO_0859218 UMLS CUI C5562060 OMIM ID 619694 MedGen ID 1794270

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
LMBRD2	OTD9C4IF	Strong	Autosomal dominant	[1]
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References

1	A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017 Sep;19(9):1055-1063. doi: 10.1038/gim.2017.1. Epub 2017 Mar 23.