DOCK3, dedicator of cytokinesis 3, 1795

N. diseases: 85; N. variants: 51
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 Biomarker phenotype BEFREE Here, we report on three patients with DOCK3-related developmental delay, wide-based or uncoordinated gait, and hypotonia, further supporting DOCK3's role in a neurodevelopmental syndrome and expanding the spectrum of phenotypic and genotypic variability. 30976111 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype BEFREE DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 29130632 2018