Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cerebellar tremor
Always present (100%)HP:0002080
CNS hypomyelination
Always present (100%)HP:0003429
Cognitive delay
Always present (100%)HP:0001263
Depression
Always present (100%)HP:0000716
Generalised brain degeneration
Always present (100%)HP:0002283
Generalised dystonia
Always present (100%)HP:0007325
Head titubation
Always present (100%)HP:0002599
Inability to walk
Always present (100%)HP:0002540
Intellectual deterioration
Always present (100%)HP:0001268
Lack of feeling, emotion, interest
Always present (100%)HP:0000741
Psychomotor deterioration
Always present (100%)HP:0002361
Spastic paraplegia
Always present (100%)HP:0001258
Thinning of the corpus callosum
Always present (100%)HP:0033725
Tremor
Always present (100%)HP:0001337
Urinary urgency
Always present (100%)HP:0000012
Vermian atrophy
Always present (100%)HP:0006855
Vertical gaze palsy
Always present (100%)HP:0000511
Wide based walk
Always present (100%)HP:0002136
Writer's cramp
Always present (100%)HP:0002356
Abnormal CNS myelination
Very frequent (80-99%)HP:0011400
Abnormality of movement
Very frequent (80-99%)HP:0100022
Ataxia
Very frequent (80-99%)HP:0001251
Behavioural disorders
Very frequent (80-99%)HP:0000708
Cachexia
Very frequent (80-99%)HP:0004326
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Cognitive deficits
Very frequent (80-99%)HP:0100543
Corticospinal signs
Very frequent (80-99%)HP:0007256
Failure to thrive in first year of life
Very frequent (80-99%)HP:0001531
Gait disturbance
Very frequent (80-99%)HP:0001288
Related Conditions
Type III transitional Pelizaeus-Merzbacher disease(child)
Type IV adult Pelizaeus-Merzbacher disease(child)
Type V atypical Pelizaeus-Merzbacher disease(child)
Type VI Cockayne Pelizaeus-Merzbacher disease(child)
Pelizaeus-Merzbacher disease, connatal variant(child)
Pelizaeus-Merzbacher disease, classic form(child)
PLP1 null syndrome(child)
Pelizaeus-Merzbacher disease in female carrier(child)
Leucodystrophy(parent)
Hereditary degenerative disease of central nervous system(parent)
X-linked hereditary disease(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 64855000
- UMLS CUI
- C0205711
- Fully Specified Name
- Pelizaeus-Merzbacher disease (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.