Details of Disease | DrugMAP

General Information of Disease (ID: DISH0AG5)

Disease Name	Snijders Blok-Campeau syndrome
Synonyms	SNIJDERS BLOK-CAMPEAU SYNDROME; SNIBCPS; intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies
Disease Hierarchy	DISYKSRF: Genetic disease DISH0AG5: Snijders Blok-Campeau syndrome
Disease Identifiers	MONDO ID MONDO_0032600 UMLS CUI C4748701 OMIM ID 618205 MedGen ID 1648495 Orphanet ID 599082 SNOMED CT ID 1179408008

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
CHD3	OTDBU4F3	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.