Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal palate morphology
Very frequent (80-99%)HP:0000174
Abnormality of movement
Very frequent (80-99%)HP:0100022
Abnormality of the liver
Very frequent (80-99%)HP:0001392
Adrenocortical insufficiency
Very frequent (80-99%)HP:0008207
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Decreased body height
Very frequent (80-99%)HP:0004322
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Global developmental delay, severe
Very frequent (80-99%)HP:0011344
High forehead
Very frequent (80-99%)HP:0000348
Increased reflexes
Very frequent (80-99%)HP:0001347
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Laboratory abnormality
Very frequent (80-99%)HP:0001939
Neurodevelopmental regression
Very frequent (80-99%)HP:0002376
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Optic atrophy
Very frequent (80-99%)HP:0000648
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Seizures
Very frequent (80-99%)HP:0001250
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Squint
Very frequent (80-99%)HP:0000486
Turridolichocephaly
Very frequent (80-99%)HP:0000268
Abnormality of neuronal migration
Frequent (30-79%)HP:0002269
Abnormality of RPE
Frequent (30-79%)HP:0007703
Big calvaria
Frequent (30-79%)HP:0000256
Bilateral single transverse palmar creases
Frequent (30-79%)HP:0007598
Cataract
Frequent (30-79%)HP:0000518
Eye drop
Frequent (30-79%)HP:0000508
Poor vision
Frequent (30-79%)HP:0000505
Wider-than-typical soft spot of skull
Frequent (30-79%)HP:0000260
Quick Facts
- SNOMED CT
- 238061001
- UMLS CUI
- C0282525
- Fully Specified Name
- Neonatal adrenoleukodystrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.