Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bicuspid aortic valve
Very frequent (80-99%)HP:0001647
Coarse face
Very frequent (80-99%)HP:0000280
Cutaneous syndactyly of digits
Very frequent (80-99%)HP:0012725
Decreased bone mineral density Z score
Very frequent (80-99%)HP:0004349
Decreased volume of upper lip
Very frequent (80-99%)HP:0000219
Enlarged aortic root
Very frequent (80-99%)HP:0002616
Feeding difficulties
Very frequent (80-99%)HP:0011968
Growth deficiency
Very frequent (80-99%)HP:0001510
Hypotonia, in neonatal onset
Very frequent (80-99%)HP:0001319
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Low posterior hair line
Very frequent (80-99%)HP:0002162
Malformation of face
Very frequent (80-99%)HP:0001999
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Mitral valve stenosis
Very frequent (80-99%)HP:0001718
Night blindness, stationary
Very frequent (80-99%)HP:0007642
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Osteoporosis
Very frequent (80-99%)HP:0000939
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Poor school performance
Very frequent (80-99%)HP:0001249
Premature menopause
Very frequent (80-99%)HP:0008209
Primary amenorrhea
Very frequent (80-99%)HP:0000786
Protruding ear
Very frequent (80-99%)HP:0000411
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Short neck
Very frequent (80-99%)HP:0000470
Squint
Very frequent (80-99%)HP:0000486
Syndactyly of feet
Very frequent (80-99%)HP:0001770
VSD
Very frequent (80-99%)HP:0001629
Wide palpebral fissure
Very frequent (80-99%)HP:0000637
Hypoplasia involving bones of the lower limbs
Frequent (30-79%)HP:0009816
Related Conditions
Quick Facts
- SNOMED CT
- 766760004
- UMLS CUI
- C4707824
- Fully Specified Name
- Small ring X chromosome (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.