has material basis in germline mutation in PIP5K1C Mendelian neurodevelopmental disorder neurodevelopmental disorder PIP5K1C-related neurodevelopmental disorder https://github.com/monarch-initiative/mondo/issues/8931 This is a distinct entity from MONDO:0012656 lethal congenital contractural syndrome 3. MONDO:1010145 PIP5K1C-related neurodevelopmental disorder 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.