Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal retropulsion test
Always present (100%)HP:0002172
Camptodactyly
Always present (100%)HP:0012385
Delayed CNS myelination
Always present (100%)HP:0002188
Fine motor skill dysfunction
Always present (100%)HP:0007010
Generalised overgrowth
Always present (100%)HP:0001548
Hoarse cry
Always present (100%)HP:0001615
Mental retardation, mild
Always present (100%)HP:0001256
Prominent finger pads
Always present (100%)HP:0001212
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormality of the fingernails
Very frequent (80-99%)HP:0001231
Accelerated linear growth
Very frequent (80-99%)HP:0000098
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Deep-set nails
Very frequent (80-99%)HP:0001814
Early bone maturation
Very frequent (80-99%)HP:0005616
Husky voice
Very frequent (80-99%)HP:0001609
Hypoplastic toenails
Very frequent (80-99%)HP:0001800
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Large ears
Very frequent (80-99%)HP:0000400
Large head
Very frequent (80-99%)HP:0000256
Loose redundant skin
Very frequent (80-99%)HP:0001582
Mental deficiency
Very frequent (80-99%)HP:0001249
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Retrognathia
Very frequent (80-99%)HP:0000278
Spasticity and rigidity of muscles
Very frequent (80-99%)HP:0001276
Thin nails
Very frequent (80-99%)HP:0001816
Bilateral fourth metatarsal shortening
Frequent (30-79%)HP:0004689
Broad foot
Frequent (30-79%)HP:0001769
Broad thumbs
Frequent (30-79%)HP:0011304
Related Conditions
Quick Facts
- SNOMED CT
- 63119004
- UMLS CUI
- C0265210
- Fully Specified Name
- Weaver syndrome (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.