DPH1, diphthamide biosynthesis 1, 1801

N. diseases: 51; N. variants: 9
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) 		0.140 GeneticVariation phenotype BEFREE DPH1 variants have been associated with an ultra-rare and severe neurodevelopmental disorder, mainly characterized by variable developmental delay, short stature, dysmorphic features, and sparse hair. 30877278 2020
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.140 GeneticVariation phenotype BEFREE In humans, DPH1 mutations cause developmental delay with a short stature, dysmorphic features, and sparse hair, and are inherited in an autosomal recessive manner (MIM#616901). 29362492 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.140 GeneticVariation phenotype BEFREE Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). 29410513 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.140 GeneticVariation phenotype BEFREE Ovca1 homozygous mutant mice die at birth with developmental delay and cell-autonomous proliferation defects. 15661533 2005
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.140 GeneticVariation phenotype CLINVAR