Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated circulating creatine phosphokinase
Always present (100%)HP:0003236
Abnormality of RPE
Very frequent (80-99%)HP:0007703
Absence of corpus callosum
Very frequent (80-99%)HP:0001274
Cellular immunodeficiency
Very frequent (80-99%)HP:0005374
Decreased body height
Very frequent (80-99%)HP:0004322
Disease of the heart muscle
Very frequent (80-99%)HP:0001638
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Hypopigmentation of hair
Very frequent (80-99%)HP:0005599
Hypopigmentation of the skin
Very frequent (80-99%)HP:0001010
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Poor school performance
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Susceptibility to infection
Very frequent (80-99%)HP:0002719
Ureteral atresia
Very frequent (80-99%)HP:0005999
Cataract
Frequent (30-79%)HP:0000518
Decreased size of cranium
Frequent (30-79%)HP:0000252
Growth delay as children
Frequent (30-79%)HP:0008897
Heterotopias
Frequent (30-79%)HP:0002282
High arched palate
Frequent (30-79%)HP:0000218
Hypopigmentation of the fundus
Frequent (30-79%)HP:0007894
Hypoplastic mandible
Frequent (30-79%)HP:0000347
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Myopathy
Frequent (30-79%)HP:0003198
Nasal tip, depressed
Frequent (30-79%)HP:0000437
Optic atrophy
Frequent (30-79%)HP:0000648
Pontine hypoplasia
Frequent (30-79%)HP:0012110
Renal tubular acidosis
Frequent (30-79%)HP:0001947
Seizures
Frequent (30-79%)HP:0001250
Small cerebellum
Frequent (30-79%)HP:0001321
Related Conditions
Agenesis of corpus callosum(parent)
Congenital immunodeficiency disease(parent)
Congenital oculocutaneous hypopigmentation(parent)
Multiple system malformation syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of immune system(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of nervous system(parent)
Hereditary disorder of the visual system(parent)
Congestive cardiomyopathy(parent)
Combined immunodeficiency disease(parent)
Genetic disorder of skin pigmentation(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 719824001
- UMLS CUI
- C1855772
- Fully Specified Name
- Vici 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.