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. [ http://www.ncbi.nlm.nih.gov/pubmed/26376863 http://www.ncbi.nlm.nih.gov/pubmed/23595882 http://www.ncbi.nlm.nih.gov/pubmed/30985297 http://www.ncbi.nlm.nih.gov/pubmed/29127204 https://clinicalgenome.org/affiliation/40006/ http://www.ncbi.nlm.nih.gov/pubmed/15746149 http://www.ncbi.nlm.nih.gov/pubmed/26467484 ]