GENE -- gene symbol (links to gene page)Condition -- named syndrome or disease+ -- predominantly adult-onset; pediatric cases documented
P43 entries · 28 genes, 15 conditions
Gene Symbols (28)
Conditions (15)
Pelizaeus-Merzbacher diseasePena-Shokeir syndromePerrault syndromePitt-Hopkins syndromePompe disease (GSD II)Paraneoplastic Sensory Neuronopathy with Anti-Hu AntibodiesPeripheral Neuropathies with Myelinopathy: Pathologic Differential DiagnosisPhosphoglycerate Kinase DeficiencyPOEMS SyndromePOLYMYALGIA RHEUMATICAPonto-Cerebellar HypoplasiaPositive Result: Clinical Utility and InterpretationsPOTASSIUM CHANNELSProtracted Febrile Myalgia (PFM)Proximal Myotonic Myopathy (PROMM; DM2)
Data sourced from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.