Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Dull intelligence
Always present (100%)HP:0001249
Flexion deformities of thumbs
Always present (100%)HP:0009600
Aqueductal stenosis
Very frequent (80-99%)HP:0002410
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Nonsyndromal hydrocephalus
Very frequent (80-99%)HP:0000238
Paralysis or weakness of one side of body
Very frequent (80-99%)HP:0004374
Pseudotumor cerebri
Very frequent (80-99%)HP:0002516
Spastic paraplegia
Frequent (30-79%)HP:0001258
Thumb-in-palm pattern
Frequent (30-79%)HP:0001181
Absence of the septum pellucidum
Occasional (5-29%)HP:0001331
Epilepsy
Occasional (5-29%)HP:0001250
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Single brain ventricle
Occasional (5-29%)HP:0001360
Squint
Occasional (5-29%)HP:0000486
Stiff joint
Occasional (5-29%)HP:0001387
Thickened facial skin with coarse facial features
Occasional (5-29%)HP:0000280
Absence of corpus callosum
HP:0001274
Corticospinal tract hypoplasia
HP:0007016
Large head
HP:0000256
Quick Facts
- SNOMED CT
- 71779008
- UMLS CUI
- C0265216
- Fully Specified Name
- X-linked hydrocephalus syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.