Radio-Tartaglia syndrome
Findings
No curated finding names Radio-Tartaglia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0859143), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
78 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 33 of 33 reported patients
- Intellectual disabilityHPOHP:0001249
- 33 of 33 reported patients
- HypotoniaHPOHP:0001252
- 22 of 30 reported patients
- Autistic behaviorHPOHP:0000729
- 18 of 28 reported patients
- Gait imbalanceHPOHP:0002141
- 14 of 27 reported patients
- Motor stereotypyHPOHP:0000733
- 13 of 28 reported patients
- Aggressive behaviorHPOHP:0000718
Show the remaining 66
- Motor delayHPOHP:0001270
- 8 of 32 reported patients
- Precocious pubertyHPOHP:0000826
- 4 of 18 reported patients
- Long philtrumHPOHP:0000343
- 7 of 32 reported patients
- Dry skinHPOHP:0000958
- 6 of 29 reported patients
- Narrow foreheadHPOHP:0000341
- 6 of 32 reported patients
- BrachydactylyHPOHP:0001156
- 5 of 30 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SPENHGNC:17575
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Radio-Tartaglia syndrome
- Also called
- SPEN-related neurodevelopmental disorder