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Medical genetics / Genes / Multiple carboxylase deficiency / B vitamins / Biotinidase / Biotin / Biotin deficiency / Holocarboxylase synthetase deficiency / Genetics / Biotinidase deficiency / Genetic genealogy


Disease Name Biotinidase Deficiency Alternate name(s)
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Document Date: 2014-08-08 19:47:02

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Company

Support Group Biotinidase Family Support Group / /

Facility

American College of Medical Genetics / /

MedicalCondition

ataxia / developmental delay / profound biotinidase deficiency / optic atrophy / Inherited Metabolic Diseases / neurosensory hearing loss / mental retardation / seizures / LATE-ONSET MULTIPLE CARBOXYLASE DEFICIENCY / hypotonia / hyperventilation / recurrent infections / MULTIPLE CARBOXYLASE DEFICIENCY / biotinidase deficiency / coma / untreated profound biotinidase deficiency / rash / skin rash / alopecia / partial biotinidase deficiency / apnea / /

Organization

American College of Medical Genetics / /

Position

recessive General / /

URL

http /

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