Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of RPE
Very frequent (80-99%)HP:0007703
Cerebral pachygyria
Very frequent (80-99%)HP:0001302
Global developmental delay, severe
Very frequent (80-99%)HP:0011344
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Moderate mental retardation
Very frequent (80-99%)HP:0002342
More grooves in brain
Very frequent (80-99%)HP:0002126
Partial or complete agenesis of corpus callosum
Very frequent (80-99%)HP:0001338
Psychomotor retardation, moderate
Very frequent (80-99%)HP:0011343
Block vertebrae
Frequent (30-79%)HP:0003305
Cerebellar hypoplasia/atrophy
Frequent (30-79%)HP:0007360
Cleft ribs
Frequent (30-79%)HP:0000892
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Laterally sparse eyebrows
Frequent (30-79%)HP:0005338
Missing ribs
Frequent (30-79%)HP:0000921
Muscular hypotonia
Frequent (30-79%)HP:0001252
Nanophthalmos
Frequent (30-79%)HP:0000568
Paralysis or weakness of one side of body
Frequent (30-79%)HP:0004374
Protruding ear
Frequent (30-79%)HP:0000411
Rib fusion
Frequent (30-79%)HP:0000902
Sagittal clefting of vertebrae
Frequent (30-79%)HP:0003316
Spasticity and rigidity of muscles
Frequent (30-79%)HP:0001276
Supernumerary ribs
Frequent (30-79%)HP:0005815
Abnormal formation of the hip
Occasional (5-29%)HP:0001385
Abnormal skin colour
Occasional (5-29%)HP:0001000
Cleft of palate
Occasional (5-29%)HP:0000175
Related Conditions
Congenital chorioretinal degeneration(parent)
Hereditary disorder of the visual system(parent)
Hereditary disorder of nervous system(parent)
Hereditary neoplastic syndrome(parent)
Aplasia of corpus callosum(parent)
Developmental hereditary disorder(parent)
Degenerative disorder of muscle(parent)
X-linked dominant hereditary disease(parent)
Seizure disorder(parent)
Quick Facts
- SNOMED CT
- 80651009
- UMLS CUI
- C0175713
- Fully Specified Name
- Aicardi's 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.