HAX1, HCLS1 associated protein X-1, 10456

N. diseases: 59; 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) 		0.020 Biomarker phenotype BEFREE All patients with HAX1 deficiency had experienced developmental delay. 18611981 2008
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype BEFREE Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency. 18055975 2007