General Information of Disease (ID: DISR56LG)

Disease Name Siddiqi syndrome
Synonyms SIDDIS; Deafness, Dystonia, Developmental Delay, and Poor Growth; SIDDIQI SYNDROME
Disease Hierarchy
DISYKSRF: Genetic disease
DISR56LG: Siddiqi syndrome
Disease Identifiers
MONDO ID
MONDO_0032842
UMLS CUI
C5231435
OMIM ID
618635
MedGen ID
1684813

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
FITM2 OTED0W1S Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

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.