General Information of Disease (ID: DISXQDDJ)

Disease Name Bryant-Li-Bhoj neurodevelopmental syndrome 1
Synonyms BRYLIB1
Disease Hierarchy
DISCPG1P: Bryant-Li-Bhoj neurodevelopmental syndrome
DISXQDDJ: Bryant-Li-Bhoj neurodevelopmental syndrome 1
Disease Identifiers
MONDO ID
MONDO_0030606
UMLS CUI
C5676905
OMIM ID
619720
MedGen ID
1801103

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
H3-3A TT16NHT Definitive 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
H3-3A OT9XHQ3C 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.