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Horizontal gaze palsy with progressive scoliosis
disorderSNOMED 702381007CUI C1846496
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cognitive delay
Always present (100%)HP:0001263
Delayed ability to sit
Always present (100%)HP:0025336
Pontine hypoplasia
Always present (100%)HP:0012110
Thoracolumbar scoliosis
Always present (100%)HP:0002944
Torticollis
Always present (100%)HP:0000473
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Hunched back
Very frequent (80-99%)HP:0002808
Decreased size of cranium
Frequent (30-79%)HP:0000252
Delayed skeletal development
Frequent (30-79%)HP:0002750
Esotropia
Frequent (30-79%)HP:0000565
Flattening of cranial vault
Frequent (30-79%)HP:0001357
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Hyperopic astigmatism
Frequent (30-79%)HP:0000484
Impaired ocular abduction
Frequent (30-79%)HP:0000634
Impaired vision
Frequent (30-79%)HP:0000505
Increased size of skull
Frequent (30-79%)HP:0000256
Intellectual impairment
Frequent (30-79%)HP:0100543
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Limited eye motility from Duane anomaly
Frequent (30-79%)HP:0009921
Muscular hypotonia
Frequent (30-79%)HP:0001252
Myopathy
Frequent (30-79%)HP:0003198
Short neck
Frequent (30-79%)HP:0000470
Short stature, proportionate
Frequent (30-79%)HP:0003508
Squint
Frequent (30-79%)HP:0000486
Truncal hypotonia
Frequent (30-79%)HP:0008936
Epilepsy
Occasional (5-29%)HP:0001250
Sensorineural deafness
Occasional (5-29%)HP:0000407
Horizontal supranuclear gaze palsy
HP:0007817
Progressive ophthalmoplegia
HP:0007650
Small cerebellum
HP:0001321
Related Conditions
Horizontal gaze palsy(parent)
Hereditary disorder of the visual system(parent)
Hereditary disorder of musculoskeletal system(parent)
Scoliosis deformity of spine(parent)
Hereditary disorder of nervous system(parent)
Recessive hereditary disorder (autosomal)(parent)
Chronic musculoskeletal disorder(parent)
Chronic nervous system disease(parent)
Quick Facts
- SNOMED CT
- 702381007
- UMLS CUI
- C1846496
- Fully Specified Name
- Horizontal gaze palsy with progressive scoliosis (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.