Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of neuronal migration
Very frequent (80-99%)HP:0002269
Bilateral perisylvian polymicrogyria
Very frequent (80-99%)HP:0032407
Distal arthrogryposis
Frequent (30-79%)HP:0005684
EEG with central focal spikes
Frequent (30-79%)HP:0012014
EEG with parietal focal spikes
Frequent (30-79%)HP:0012017
EEG: spike and multispike waves, 3-4 hz
Frequent (30-79%)HP:0002392
Flexion contractures
Frequent (30-79%)HP:0001371
Focal seizures
Frequent (30-79%)HP:0007359
Hypotonia, early
Frequent (30-79%)HP:0008947
Increased reflexes
Frequent (30-79%)HP:0001347
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Language impairment
Frequent (30-79%)HP:0002463
Mental-retardation
Frequent (30-79%)HP:0001249
Perisylvian predominant thick cortex pachygyria
Frequent (30-79%)HP:0020190
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Seizures
Frequent (30-79%)HP:0001250
Specific learning disability
Frequent (30-79%)HP:0001328
Speech difficulties
Frequent (30-79%)HP:0000750
Weakness of face
Frequent (30-79%)HP:0030319
Abnormality of masticatory muscle
Occasional (5-29%)HP:0410011
Apnea
Occasional (5-29%)HP:0002104
Appendicular hypertonia
Occasional (5-29%)HP:0002509
Bilateral facial weakness
Occasional (5-29%)HP:0001349
Cerebellar dysplasia
Occasional (5-29%)HP:0007033
Cerebellar vermis hypoplasia
Occasional (5-29%)HP:0001320
Choanal atresia
Occasional (5-29%)HP:0000453
Decreased projection of mandible
Occasional (5-29%)HP:0000347
Decreased size of cranium
Occasional (5-29%)HP:0000252
Deglutition disorder
Occasional (5-29%)HP:0002015
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Related Conditions
Quick Facts
- SNOMED CT
- 438583008
- UMLS CUI
- C1845668
- Fully Specified Name
- Congenital bilateral perisylvian syndrome (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.