PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Neurologic Symptoms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.030 Biomarker group BEFREE A diagnosis of PMM2-CDG was consistent with the proband's neurological symptoms and severe hypolipidaemia. 31391289 2020
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.030 Biomarker group BEFREE The neurological symptoms of PMM2-CDG are intellectual disability (ID), cerebellar ataxia, and peripheral neuropathy. 31727010 2019
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.030 GeneticVariation group BEFREE Four patients were diagnosed with PMM2-CDG at the age of 8 years or later as their neurological symptoms were quite mild and they had been able to participate in regular school programs. 28425223 2017