Details of Disease

General Information of Disease (ID: DISDWNF6)

Disease Name Basilicata-Akhtar syndrome
Synonyms MRXSBA; Mental Retardation, X-Linked, Syndromic 36; Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type; Basilicata-Akhtar syndrome; Basilicata-Akhtar syndrome, X-linked dominant
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISDWNF6: Basilicata-Akhtar syndrome
Disease Identifiers
MONDO ID
MONDO_0026730
UMLS CUI
C5231394
OMIM ID
301032
MedGen ID
1684820

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
MSL3 OTTP9765 Definitive X-linked [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.