Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Big calvaria
Always present (100%)HP:0000256
Delayed motor milestones
Always present (100%)HP:0001270
Dilatation of lateral cerebral ventricles
Always present (100%)HP:0006956
Photophobia
Always present (100%)HP:0000613
Squint
Always present (100%)HP:0000486
Vomiting
Always present (100%)HP:0002013
Abnormality of the calcaneal tendon
Very frequent (80-99%)HP:0005109
Absent tendon reflexes
Very frequent (80-99%)HP:0001284
CNS hypomyelination
Very frequent (80-99%)HP:0003429
Diffuse axonal swelling
Very frequent (80-99%)HP:0003405
Gait disturbance
Very frequent (80-99%)HP:0001288
Generalised decreased muscle tone
Very frequent (80-99%)HP:0001290
Loose-jointedness
Very frequent (80-99%)HP:0001382
Pili canaliculi
Very frequent (80-99%)HP:0002235
Abnormal shape of hand
Frequent (30-79%)HP:0005922
Cavus foot
Frequent (30-79%)HP:0001761
Cerebellar abnormality
Frequent (30-79%)HP:0001317
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Loss of distal sensation
Frequent (30-79%)HP:0002936
Mental-retardation
Frequent (30-79%)HP:0001249
Nappy hair texture
Frequent (30-79%)HP:0002224
Unsteady walk
Frequent (30-79%)HP:0002317
Weakness of outermost muscles
Frequent (30-79%)HP:0002460
Abnormal pituitary gland morphology
Occasional (5-29%)HP:0012503
Extensor plantar responses
Occasional (5-29%)HP:0003487
Falls
Occasional (5-29%)HP:0002527
Genu valga
Occasional (5-29%)HP:0002857
Limb muscle weakness
Occasional (5-29%)HP:0003690
Abnormal pyramidal tract morphology
HP:0002062
Quick Facts
- SNOMED CT
- 128207002
- UMLS CUI
- C5200933
- Fully Specified Name
- Giant axonal neuropathy (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.