Overview
Pontine tegmental cap dysplasia 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.
Increased reflexes
Always present (100%)HP:0001347
Poor school performance
Very frequent (80-99%)HP:0001249
Ankle clonus
Occasional (5-29%)HP:0011448
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Seizures
Occasional (5-29%)HP:0001250
Ataxia
HP:0001251
Central hypotonia
HP:0001252
Chewing difficulties
HP:0005216
Corneal hypesthesia
HP:0012155
Defective or absent horizontal voluntary eye movements
HP:0000657
Deglutition disorder
HP:0002015
Dysmetria
HP:0001310
Eye drop
HP:0000508
Eye movement issue
HP:0000496
Facial muscle weakness of muscles innervated by CN VII
HP:0010628
Feeding difficulties
HP:0011968
Generalised decreased muscle tone
HP:0001290
Head titubation
HP:0002599
Hemivertebra
HP:0002937
Involuntary, rapid, rhythmic eye movements
HP:0000639
No speech development
HP:0001344
Pontine tegmental cap
HP:0030975
Psychomotor development deficiency
HP:0001263
Pulmonary aspiration
HP:0002835
Rib fusion
HP:0000902
Scoliosis
HP:0002650
Sensorineural deafness
HP:0000407
Squint
HP:0000486
Undergrowth
HP:0001508
Quick Facts
- SNOMED CT
- 782884005
- UMLS CUI
- C3541340
- Fully Specified Name
- Pontine tegmental cap dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.