PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Clumsiness - motor delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.010 GeneticVariation disease BEFREE While her phenotypic features such as cognitive impairment and motor delay show overlap with Pelizaeus-Merzbacher disease (PMD) caused by PLP1 mutations at Xq22.2, this gene is not included in our patient's microdeletion and is not dysregulated by a position effect. 27506666 2016