PCDH12, protocadherin 12, 51294

N. diseases: 29; N. variants: 6
Disease: Developmental Disabilities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.010 GeneticVariation group BEFREE Loss of function of PCDH12 leads to recessive congenital microcephaly with profound developmental disability. 27164683 2016