PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype BEFREE Heterozygous de novo or inherited pathogenic variants in the PCDH19 gene cause a spectrum of neurodevelopmental features including developmental delay and seizures. 29933145 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype BEFREE This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family history of EFMR. 19752159 2010