Overview
Jalili 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.
Enamel agenesis
Always present (100%)HP:0033785
Yellow-brown discolored teeth
Always present (100%)HP:0006286
Abnormality of dental color
Very frequent (80-99%)HP:0011073
Abnormality of RPE
Very frequent (80-99%)HP:0007703
Amelogenesis imperfecta
Very frequent (80-99%)HP:0000705
Colour vision defects
Very frequent (80-99%)HP:0000551
Defective tooth enamel
Very frequent (80-99%)HP:0000682
Dental cavities
Very frequent (80-99%)HP:0000670
Impaired vision
Very frequent (80-99%)HP:0000505
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Photophobia
Very frequent (80-99%)HP:0000613
Attenuation of retinal blood vessels
Frequent (30-79%)HP:0007843
Difficulties with night vision
Frequent (30-79%)HP:0000662
High-grade hypermetropia
Frequent (30-79%)HP:0008499
Macular atrophy
Frequent (30-79%)HP:0007401
Nystagmus, continuous pendular
Frequent (30-79%)HP:0012043
Optic atrophy
Frequent (30-79%)HP:0000648
Optic disc pallor
Frequent (30-79%)HP:0000543
RPE irregularity
Frequent (30-79%)HP:0007814
Fundus with peripheral bony spicules
Occasional (5-29%)HP:0007737
Scotoma
Occasional (5-29%)HP:0000575
Cone-rod retinal dystrophy
HP:0000548
Total colorblindness
HP:0007803
Related Conditions
Quick Facts
- SNOMED CT
- 707608003
- UMLS CUI
- C3495589
- Fully Specified Name
- Amelogenesis imperfecta co-occurrent with cone rod dystrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.