Disease: Developmental delay (disorder) ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.040 GeneticVariation phenotype BEFREE While deletion of chromosome 17p13.3 (encompassing PAFAH1B1 and YWHAE genes) is known to result in Miller-Dieker syndrome (OMIM 247200), 17p13.3 microduplication gives rise to a condition commonly associated with developmental delay and autism spectrum disorder. 23063769 2012
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.040 GeneticVariation phenotype BEFREE Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. 23035971 2012
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.040 Biomarker phenotype BEFREE Increased PAFAH1B1 dosage causes mild brain structural abnormalities, moderate to severe developmental delay and failure to thrive. 19136950 2009
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.040 Biomarker phenotype BEFREE PAFAH1B1/LIS1 and YWHAE, which were deleted in isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker syndrome (both genes), were found to be duplicated in patients with developmental delay. 19287139 2008