Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ataxia
Very frequent (80-99%)HP:0001251
Cerebral hypomyelination
Very frequent (80-99%)HP:0006808
Cognitive delay
Very frequent (80-99%)HP:0001263
Confluent hyperintensity of cerebral white matter on MRI
Very frequent (80-99%)HP:0040330
Delayed ability to walk
Very frequent (80-99%)HP:0031936
EEG with abnormally slow frequencies
Very frequent (80-99%)HP:0011203
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Speech delay
Very frequent (80-99%)HP:0000750
Abnormal vocalization
Frequent (30-79%)HP:0002167
Abnormality of somatosensory evoked potentials
Frequent (30-79%)HP:0007377
Athetoid movements
Frequent (30-79%)HP:0002305
Central hypotonia
Frequent (30-79%)HP:0001252
Cognitive deficits
Frequent (30-79%)HP:0100543
Corticospinal signs
Frequent (30-79%)HP:0007256
Delay in head control
Frequent (30-79%)HP:0002421
Delayed ability to sit
Frequent (30-79%)HP:0025336
Dystonic disease
Frequent (30-79%)HP:0001332
Gait disturbance
Frequent (30-79%)HP:0001288
Head tremor
Frequent (30-79%)HP:0002346
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Spastic tetraparesis
Frequent (30-79%)HP:0001285
Titubation
Frequent (30-79%)HP:0030187
Truncal hypotonia
Frequent (30-79%)HP:0008936
Dystonic gait
Occasional (5-29%)HP:0031954
Extrapyramidal dysfunction
Occasional (5-29%)HP:0002071
Orofacial dyskinesias
Occasional (5-29%)HP:0002310
Quick Facts
- SNOMED CT
- 87607002
- UMLS CUI
- C0751916
- Fully Specified Name
- Pelizaeus-Merzbacher disease, classic form (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.