Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cobb angle greater than ten degrees
Always present (100%)HP:0002650
Cognitive delay
Always present (100%)HP:0001263
Eye drop
Always present (100%)HP:0000508
Husky voice
Always present (100%)HP:0001609
Large halluces
Always present (100%)HP:0001847
Narrow, high-arched roof of mouth
Always present (100%)HP:0002705
Poor school performance
Always present (100%)HP:0001249
Thickened calvaria
Always present (100%)HP:0002684
Thin cortices
Always present (100%)HP:0002753
Kyphoscoliosis
Very frequent (80-99%)HP:0002751
Arachnodactyly
Frequent (30-79%)HP:0001166
Cleft of palate
Frequent (30-79%)HP:0000175
Decreased muscle mass
Frequent (30-79%)HP:0003199
Dolichostenomelia
Frequent (30-79%)HP:0001519
Full lower lip
Frequent (30-79%)HP:0000179
Hunched back
Frequent (30-79%)HP:0002808
Hypernasal voice
Frequent (30-79%)HP:0001611
Hypotonia, early
Frequent (30-79%)HP:0008947
Increased length of toes
Frequent (30-79%)HP:0010511
Osteoporosis
Frequent (30-79%)HP:0000939
Short neck
Frequent (30-79%)HP:0000470
Single flexion crease
Frequent (30-79%)HP:0000954
Slender toe
Frequent (30-79%)HP:0011308
Thin face
Frequent (30-79%)HP:0000275
Unbalanced face
Frequent (30-79%)HP:0000324
Unsteady walk
Frequent (30-79%)HP:0002317
Vertebral collapse
Frequent (30-79%)HP:0002953
Vertical enlargement of face
Frequent (30-79%)HP:0000276
Asymmetric ears
Occasional (5-29%)HP:0010722
Bulbous nasal tip
Occasional (5-29%)HP:0000414
Quick Facts
- SNOMED CT
- 702416008
- UMLS CUI
- C0796160
- Fully Specified Name
- X-linked intellectual disability Snyder 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.