Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased circulating biotinidase concentration
Very frequent (80-99%)HP:0410145
Metabolic ketoacidosis
Very frequent (80-99%)HP:0005979
Organic aciduria
Very frequent (80-99%)HP:0001992
Brain and/or spinal cord issue
Frequent (30-79%)HP:0000707
Brain imaging abnormality
Frequent (30-79%)HP:0410263
Central hypotonia
Frequent (30-79%)HP:0001252
High blood ammonia levels
Frequent (30-79%)HP:0001987
Immunological abnormality
Frequent (30-79%)HP:0002715
Seizures
Frequent (30-79%)HP:0001250
Sensorineural deafness
Frequent (30-79%)HP:0000407
Skin rash
Frequent (30-79%)HP:0000988
Abnormal eye
Occasional (5-29%)HP:0000478
Apnea
Occasional (5-29%)HP:0002104
Ataxia
Occasional (5-29%)HP:0001251
Blind spot
Occasional (5-29%)HP:0000575
Conjunctivitis, recurrent
Occasional (5-29%)HP:0000509
Damaged optic nerve
Occasional (5-29%)HP:0001138
Dullness
Occasional (5-29%)HP:0001254
Eczema
Occasional (5-29%)HP:0000964
Generalized tonic-clonic seizure (without specification of onset)
Occasional (5-29%)HP:0002069
Hair loss
Occasional (5-29%)HP:0001596
Hypoacusis
Occasional (5-29%)HP:0000365
Infantile spasms
Occasional (5-29%)HP:0012469
Laboured breathing
Occasional (5-29%)HP:0002098
Laryngeal stridor
Occasional (5-29%)HP:0006511
Limb muscle weakness
Occasional (5-29%)HP:0003690
Localized motor seizures
Occasional (5-29%)HP:0011153
Myelopathy
Occasional (5-29%)HP:0002196
Myoclonic epilepsy, progressive
Occasional (5-29%)HP:0002123
Nonprogressive mental retardation
Occasional (5-29%)HP:0001249
Related Conditions
Quick Facts
- SNOMED CT
- 8808004
- UMLS CUI
- C0220754
- Fully Specified Name
- Biotinidase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.