Details of Disease

General Information of Disease (ID: DIS25K6C)

Disease Name Radio-Tartaglia syndrome
Synonyms SPEN-related neurodevelopmental disorder
Definition
A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS25K6C: Radio-Tartaglia syndrome
Disease Identifiers
MONDO ID
MONDO_0859143
UMLS CUI
C5543339
OMIM ID
619312
MedGen ID
1778557

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
SPEN OT37A2MD 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.