PIP5K1C-related neurodevelopmental disorder

Definition

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.

Also known as PIP5K1C-related neurodevelopmental disorder — per MONDO