BTD, biotinidase, 686

N. diseases: 3; N. variants: 186
Disease: Muscle hypotonia ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice. 27014582 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Clinical utility gene card for: Biotinidase deficiency-update 2015. 26577040 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. 22698809 2012
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR "Biotinidase deficiency: ""if you have to have an inherited metabolic disease, this is the one to have""." 22241090 2012
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Hearing loss in biotinidase deficiency: genotype-phenotype correlation. 17382128 2007
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR A case of partial biotinidase deficiency associated with autism. 13680408 2003
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Mutations in BTD causing biotinidase deficiency. 11668630 2001
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. 9654207 1998