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Pelizaeus Merzbacher like disease due to GJC2 mutation
disorderSNOMED 870287007CUI C1837355
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ataxia
Always present (100%)HP:0001251
Choreoathetoid movements
Always present (100%)HP:0001266
Delay in head control
Always present (100%)HP:0002421
Delayed motor milestones
Always present (100%)HP:0001270
Difficulty articulating speech
Always present (100%)HP:0001260
Facial palsy
Always present (100%)HP:0010628
Involuntary, rapid, rhythmic eye movements
Always present (100%)HP:0000639
Spastic paraparesis
Always present (100%)HP:0002313
Complex partial seizures
Frequent (30-79%)HP:0002384
Focal seizure without impairment of awareness
Occasional (5-29%)HP:0002349
Cerebral hypomyelination
HP:0006808
Cognitive delay
HP:0001263
Decreased motor nerve conduction velocity
HP:0003431
Degeneration of cerebrum
HP:0002059
Demyelinating motor neuropathy
HP:0007220
Dystonic disease
HP:0001332
Extensor plantar responses
HP:0003487
Head titubation
HP:0002599
Intellectual impairment
HP:0100543
Leukodystrophy
HP:0002415
Muscle rigidity
HP:0002063
Near sighted
HP:0000545
Optic atrophy
HP:0000648
Problems speaking
HP:0002465
Rotary nystagmus
HP:0001583
Seizures
HP:0001250
Sensory axonal neuropathy
HP:0003390
Spasticity, progressive
HP:0002191
Terminal tremor
HP:0002080
Truncal hypotonia
HP:0008936
Related Conditions
Quick Facts
- SNOMED CT
- 870287007
- UMLS CUI
- C1837355
- Fully Specified Name
- Pelizaeus Merzbacher like disease due to GJC2 mutation (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.