PRPF19-related neurodevelopmental disorder
MONDO:1040005
Any neurodevelopmental disorder in which the cause of the disease is a mutation in the PRPF19 gene. This disorder is characterised by developmental, motor and speech delay, and facial dysmorphisms. Most patients present mild to moderate intellectual disability, autism spectrum disorder or autistic features, and hypotonia. Other phenotypes observed less frequently include seizures, and visual and cardiac abnormalities.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
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Study start year
Investigated drug interventions
Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.