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 Patients with the GABRA2 and GABRB3 variants also presented with severe epilepsy and developmental delay. 29961870 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.030 GeneticVariation phenotype BEFREE Here we show functional analyses and structural simulations for three de novo missense mutations in the GABA<sub>A</sub> receptor β3 subunit gene (GABRB3) identified in patients with early-onset epileptic encephalopathy (EOEE) and profound developmental delay. 29162865 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.030 Biomarker phenotype BEFREE Additional copies within D15S11 through GABRB3 (15q11.2-13) resulted in an abnormal phenotype which involved mental and developmental delay but was different from the classical phenotype of PW/AS (groups 2, 3). 9504785 1998