Details of Disease

General Information of Disease (ID: DIS5V84P)

Disease Name Stankiewicz-Isidor syndrome
Synonyms STISS; Stankiewicz-Isidor syndrome
Definition
A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS372XH: Neurodevelopmental disorder
DIS5V84P: Stankiewicz-Isidor syndrome
Disease Identifiers
MONDO ID
MONDO_0054591
UMLS CUI
C4479599
OMIM ID
617516
MedGen ID
1375936

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
PSMD12 OTWICA51 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.