Overview
PLP1 null syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal peripheral nerve transmission
Very frequent (80-99%)HP:0003134
CNS hypomyelination
Very frequent (80-99%)HP:0003429
Demyelinating peripheral neuropathy
Very frequent (80-99%)HP:0007108
Peripheral demyelination
Very frequent (80-99%)HP:0011096
Ataxia
Frequent (30-79%)HP:0001251
Decreased nerve conduction velocity
Frequent (30-79%)HP:0000762
Gait disturbance
Frequent (30-79%)HP:0001288
Progressive spastic paraplegia
Frequent (30-79%)HP:0007020
Cerebellar abnormality
Occasional (5-29%)HP:0001317
Inability to walk
Occasional (5-29%)HP:0002540
Moderate mental retardation
Occasional (5-29%)HP:0002342
Neurodevelopmental delay
Occasional (5-29%)HP:0012758
Optic atrophy
Occasional (5-29%)HP:0000648
Progressive spastic quadriparesis
Occasional (5-29%)HP:0002478
Quick Facts
- SNOMED CT
- 1003447007
- UMLS CUI
- C5439441
- Fully Specified Name
- Pelizaeus-Merzbacher disease null syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.