Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ataxia
Always present (100%)HP:0001251
Interictal epileptiform activity
Always present (100%)HP:0011182
Psychomotor retardation, profound
Always present (100%)HP:0012736
Cachexia
Very frequent (80-99%)HP:0004326
Generalised-onset seizure
Very frequent (80-99%)HP:0002197
Instability or lack of coordination of central trunk muscles
Very frequent (80-99%)HP:0002078
IQ less than 20
Very frequent (80-99%)HP:0002187
Loss of milestones
Very frequent (80-99%)HP:0002376
Macrotia
Very frequent (80-99%)HP:0000400
Neuronal loss in CNS
Very frequent (80-99%)HP:0002529
Nonverbal
Very frequent (80-99%)HP:0001344
Severe psychomotor retardation
Very frequent (80-99%)HP:0011344
Squint
Very frequent (80-99%)HP:0000486
Thick eyebrow
Very frequent (80-99%)HP:0000574
Vertical enlargement of face
Very frequent (80-99%)HP:0000276
Abnormality of the chest
Frequent (30-79%)HP:0000765
Autism
Frequent (30-79%)HP:0000717
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Constipation
Frequent (30-79%)HP:0002019
Decreased size of cranium
Frequent (30-79%)HP:0000252
Degeneration of cerebellum
Frequent (30-79%)HP:0001272
Deglutition disorder
Frequent (30-79%)HP:0002015
Delayed gross motor development
Frequent (30-79%)HP:0002194
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Drooling
Frequent (30-79%)HP:0002307
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Epilepsy
Frequent (30-79%)HP:0001250
Eye muscle paralysis
Frequent (30-79%)HP:0000602
Feeding difficulties
Frequent (30-79%)HP:0011968
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Quick Facts
- SNOMED CT
- 702354007
- UMLS CUI
- C2678194
- Fully Specified Name
- X-linked intellectual developmental disorder Christianson type (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.