PCDH12, protocadherin 12, 51294

N. diseases: 29; N. variants: 6
Disease: Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity 		0.010 Biomarker group BEFREE Such pathogenic variants predict a poor outcome as a result of brainstem malformation and evidence of white matter tract defects, and should be added to the phenotypic spectrum associated with PCDH12-related conditions.Ann Neurol 2018;84:646-655. 30178464 2018