PIP5K1C-related neurodevelopmental disorder
MONDO:1010145
Any neurodevelopmental disorder in which the cause of the disease is a monoallelic gain-of-function variation in the PIP5K1C gene leading to increased levels of phosphatidylinositol 4,5 bisphosphate. This disorder is characterized by intellectual disability, motor and speech delay, microcephaly, seizures, visual and ocular abnormalities, and craniofacial dysmorphic features.
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
Trial status
Trial phase
Study start year
Investigated drug interventions
Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.