has material basis in germline mutation in ATP6AP2 X-linked syndromic intellectual disability ATP6AP2-related disorder https://github.com/monarch-initiative/mondo/issues/5588 MONDO:0100146 Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes. GARD:0026062 ATP6AP2-related disorder