DDX17-related neurodevelopmental disorder
MONDO:0700368Mondo
Findings
No curated finding names DDX17-related neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodevelopmental disorder caused by variation in the DDX17 gene. This disorder is characterised by global developmental, motor, language and speech delay, and intellectual disability. Other phenotypic features commonly reported include hypotonia, dysmorphic facial features, behavioural abnormalities, mainly attention deficit hyperactivity disorder, and brain MRI abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0700368), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: DDX17-related neurodevelopmental disorder
- Also called
- DDX17-related disorder