Overview
SHILCA 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.
Abnormal auditory evoked potentials
Always present (100%)HP:0006958
Abolished electroretinogram
Always present (100%)HP:0000550
Brain wasting
Always present (100%)HP:0012444
Decreased body height
Always present (100%)HP:0004322
Delayed ability to walk
Always present (100%)HP:0031936
Delayed CNS myelination
Always present (100%)HP:0002188
Depressed nasal root/bridge
Always present (100%)HP:0005280
Dyskinesia
Always present (100%)HP:0100660
Geographic atrophy
Always present (100%)HP:0031609
High-grade hypermetropia
Always present (100%)HP:0008499
Hypoplasia of corpus callosum
Always present (100%)HP:0002079
Impaired vision
Always present (100%)HP:0000505
Irregular end part of long bone
Always present (100%)HP:0010582
Macular atrophy
Always present (100%)HP:0007401
Mental and motor retardation
Always present (100%)HP:0001263
Retarded ossification
Always present (100%)HP:0002750
Retinal degeneration
Always present (100%)HP:0000546
Sensorineural deafness
Always present (100%)HP:0000407
Spondyloepiphyseal dysplasia
Always present (100%)HP:0002655
Thickened facial skin with coarse facial features
Always present (100%)HP:0000280
Truncal hypotonia
Always present (100%)HP:0008936
Very poor growth
Always present (100%)HP:0001510
Widened cerebellar subarachnoid space
Always present (100%)HP:0012765
Ataxia
Frequent (30-79%)HP:0001251
Attenuation of retinal blood vessels
Frequent (30-79%)HP:0007843
Biconcave 'codfish' vertebrae
Frequent (30-79%)HP:0004586
Cataract
Frequent (30-79%)HP:0000518
Cervical spondylotic myelopathy
Frequent (30-79%)HP:0002318
CNS hypomyelination
Frequent (30-79%)HP:0003429
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Related Conditions
Leber's amaurosis(parent)
Spondyloepiphyseal dysplasia congenita(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Sensorineural hearing loss(parent)
Multiple system malformation syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Genetic intellectual disability(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 1356736002
- UMLS CUI
- C5543257
- Fully Specified Name
- Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis 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.