Overview
Alpha-aminoadipic aciduria is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Psychomotor retardation, mild
Always present (100%)HP:0011342
Alpha-aminoadipic aciduria
Very frequent (80-99%)HP:0410309
2-hydroxyadipic aciduria
Frequent (30-79%)HP:0034465
Elevated circulating 2-aminoadipic acid concentration
Frequent (30-79%)HP:6000278
Autism
Occasional (5-29%)HP:0000717
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Decreased size of cranium
Occasional (5-29%)HP:0000252
Delayed language development
Occasional (5-29%)HP:0000750
Epilepsy
Occasional (5-29%)HP:0001250
Mental and motor retardation
Occasional (5-29%)HP:0001263
Mental-retardation
Occasional (5-29%)HP:0001249
Muscular hypotonia
Occasional (5-29%)HP:0001252
Quick Facts
- SNOMED CT
- 782918002
- UMLS CUI
- C1859817
- Fully Specified Name
- 2-aminoadipic 2-oxoadipic aciduria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 12
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.