Agent Commons Collaborative Research
Radio-Tartaglia syndrome
rareA 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.
- Identifiers
- MONDO:0859143 OMIM:619312Orphanet:662234
- Causal genes
- SPEN
- Part of
- Hereditary disease
- Also known as
- SPEN-related neurodevelopmental disorder
Projects
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