Details of Disease | DrugMAP

General Information of Disease (ID: DISP2L6M)

Disease Name	Developmental delay with variable intellectual impairment and behavioral abnormalities
Synonyms	DDVIBA; DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; developmental delay with variable intellectual impairment and behavioral abnormalities
Disease Hierarchy	DISYKSRF: Genetic disease DISP2L6M: Developmental delay with variable intellectual impairment and behavioral abnormalities
Disease Identifiers	MONDO ID MONDO_0032745 UMLS CUI C5193092 OMIM ID 618430 MedGen ID 1676192

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
TCF20	OT8LQAOV	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.