Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Athetoid movements
Always present (100%)HP:0002305
Diminished movement
Always present (100%)HP:0002374
Limb dystonia
Always present (100%)HP:0002451
Truncal hypotonia
Always present (100%)HP:0008936
Decreased CSF 5-HIAA
Very frequent (80-99%)HP:0025455
Decreased CSF homovanillic acid concentration
Very frequent (80-99%)HP:0003785
Emotional lability
Very frequent (80-99%)HP:0000712
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Tongue thrusting
Very frequent (80-99%)HP:0100703
Apnea
Frequent (30-79%)HP:0002104
Behavioral symptoms
Frequent (30-79%)HP:0000708
Delay in head control
Frequent (30-79%)HP:0002421
Delayed motor milestones
Frequent (30-79%)HP:0001270
Dystonic movements
Frequent (30-79%)HP:0001332
Feeding difficulties
Frequent (30-79%)HP:0011968
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
Hyperekplexia
Frequent (30-79%)HP:0002267
Increased reflexes
Frequent (30-79%)HP:0001347
Involuntary closure of eyelid
Frequent (30-79%)HP:0000643
Irritability
Frequent (30-79%)HP:0000737
Jerking
Frequent (30-79%)HP:0001336
Limb tremor
Frequent (30-79%)HP:0200085
Mental-retardation
Frequent (30-79%)HP:0001249
Muscular hypotonia
Frequent (30-79%)HP:0001252
Oculogyric crisis
Frequent (30-79%)HP:0010553
Poor weight gain
Frequent (30-79%)HP:0001508
Seizures
Frequent (30-79%)HP:0001250
Spasmodic torticollis
Frequent (30-79%)HP:0000473
Sweating
Frequent (30-79%)HP:0000975
Related Conditions
Quick Facts
- SNOMED CT
- 124600004
- UMLS CUI
- C1291564
- Fully Specified Name
- Deficiency of aromatic-L-amino-acid decarboxylase (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.