Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Inverted triangular face
Very frequent (80-99%)HP:0000325
Limb dystonia
Very frequent (80-99%)HP:0002451
Mental-retardation
Very frequent (80-99%)HP:0001249
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Focal dystonia
Frequent (30-79%)HP:0004373
Gait disturbance
Frequent (30-79%)HP:0001288
Large testis
Frequent (30-79%)HP:0000053
Mental retardation, mild
Frequent (30-79%)HP:0001256
Moderate mental retardation
Frequent (30-79%)HP:0002342
Spasticity of lower limb
Frequent (30-79%)HP:0002061
Behavioral symptoms
Occasional (5-29%)HP:0000708
Camptodactyly
Occasional (5-29%)HP:0012385
Electroencephalogram abnormal
Occasional (5-29%)HP:0002353
Facial telangiectasia
Occasional (5-29%)HP:0007380
Infantile spasms
Occasional (5-29%)HP:0012469
Seizures
Occasional (5-29%)HP:0001250
Speech delay
Occasional (5-29%)HP:0000750
Flexion contractures
HP:0001371
Quick Facts
- SNOMED CT
- 702412005
- UMLS CUI
- C0796250
- Fully Specified Name
- X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.