Disease #01941 (deficiency, biotinidase, OMIM:253260)
Official abbreviation |
- |
Name |
deficiency, biotinidase |
OMIM ID |
253260 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
- |
Individuals reported having this disease |
189 |
Phenotype entries for this disease |
87 |
Associated with 1 gene |
BTD |
Associated tissues |
- |
Disease features |
biotinidase deficiency, a form of multiple carboxylase deficiency |
Remarks |
autosomal recessive, caused by homozygous or compound heterozygous variants |
Individuals
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