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) 		0.310 Biomarker phenotype GENOMICS_ENGLAND Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. 31056671 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 GeneticVariation phenotype BEFREE Using whole-genome sequencing, we identified a novel de novo missense variant in GABRA5 (c.880G > C, p.V294L) in a patient with severe early-onset epilepsy and developmental delay. 29961870 2018