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) 		0.030 GeneticVariation phenotype BEFREE Rare cases of markedly severe early onset developmental delay and congenital ataxia can be due to de novo CACNA1A missense alleles, with variants affecting the S4 transmembrane segments of the channel, some of which are reported to be loss-of-function. 28742085 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.030 Biomarker phenotype BEFREE Genetic testing of CACNA1A in patients with congenital hypotonia and developmental delay may be warranted. 26739101 2016
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.030 GeneticVariation phenotype BEFREE CACNA1A mutations should be evaluated in infants and young children with paroxysmal tonic upgaze especially if associated with developmental delay, cerebellar signs, and other types of paroxysmal event. 25596066 2015