Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation disease BEFREE These individuals, and the 52 cases reviewed from the literature, show the characteristic features of the DYRK1A-related syndrome including global developmental delay, ID, microcephaly, feeding difficulties, and the facial gestalt. 26922654 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 Biomarker disease BEFREE Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (ASD) suggests a different pathology associated with loss-of-function mutations. 25707398 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 CausalMutation disease CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation disease CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 GeneticVariation disease BEFREE Together with previously reported cases, patients with DYRK1A mutations share many clinical features and may have a recognizable phenotype that includes, by decreasing order of frequency: developmental delay or ID with behaviors suggesting autism spectrum disorder, microcephaly, epileptic seizures, facial dysmorphism including ear anomalies (large ears, hypoplastic lobes), thin lips, short philtrum and frontal bossing. 25641759 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.140 Biomarker disease BEFREE General neurobehavioral analysis revealed preweaning developmental delay of Dyrk1A(+/-) mice and specific alterations in adults. 12192061 2002