Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Deafness
Very frequent (80-99%)HP:0000365
Diabetes insipidus
Very frequent (80-99%)HP:0000873
Diabetes mellitus
Very frequent (80-99%)HP:0000819
Extreme thirst
Very frequent (80-99%)HP:0001959
Hydronephrosis
Very frequent (80-99%)HP:0000126
Optic atrophy
Very frequent (80-99%)HP:0000648
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Abnormal mesentery morphology
Frequent (30-79%)HP:0100016
Abnormality of the urinary system
Frequent (30-79%)HP:0000079
Ataxia
Frequent (30-79%)HP:0001251
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dull burning sensation with urination
Frequent (30-79%)HP:0100518
Epilepsy
Frequent (30-79%)HP:0001250
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Growth failure
Frequent (30-79%)HP:0001510
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Kidney disease
Frequent (30-79%)HP:0000112
Lens opacities
Frequent (30-79%)HP:0000518
Repeated bladder infections
Frequent (30-79%)HP:0000010
Tremor
Frequent (30-79%)HP:0001337
Autonomic dysregulation
Occasional (5-29%)HP:0012332
Central apnoea
Occasional (5-29%)HP:0002871
Cerebral cortex atrophy
Occasional (5-29%)HP:0002120
Decreased activity of gonads
Occasional (5-29%)HP:0000135
Decreased function of male gonad
Occasional (5-29%)HP:0000026
Delayed puberty
Occasional (5-29%)HP:0000823
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Dyschezia
Occasional (5-29%)HP:0002019
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Gastric ulcer
Occasional (5-29%)HP:0002592
Related Conditions
Wolfram syndrome type I(child)
Wolfram syndrome type 2(child)
Recessive hereditary disorder (autosomal)(parent)
Optic atrophy of bilateral eyes(parent)
Hereditary degenerative disease of central nervous system(parent)
Sensorineural hearing loss(parent)
Inherited optic neuropathy(parent)
Hereditary disorder of endocrine system(parent)
Diabetes mellitus type I(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 70694009
- UMLS CUI
- C0043207
- Fully Specified Name
- Wolfram 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.