Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Speech difficulties
Always present (100%)HP:0000750
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Aganglionic megacolon
Frequent (30-79%)HP:0002251
Anal incontinence
Frequent (30-79%)HP:0002607
Aplasia/Hypoplasia of the cerebral white matter
Frequent (30-79%)HP:0012429
Broad big toe
Frequent (30-79%)HP:0010055
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Bunion
Frequent (30-79%)HP:0001822
Camptodactyly
Frequent (30-79%)HP:0012385
Cardiac anomaly
Frequent (30-79%)HP:0001627
Central nervous system disease
Frequent (30-79%)HP:0002011
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Corpus callosum abnormality
Frequent (30-79%)HP:0001273
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Delayed ability to walk
Frequent (30-79%)HP:0031936
Delayed fine motor development
Frequent (30-79%)HP:0010862
Eclabium of lower lip
Frequent (30-79%)HP:0000232
EEG: generalized slow activity
Frequent (30-79%)HP:0010845
Enophthalmos
Frequent (30-79%)HP:0000490
Expressive aphasia
Frequent (30-79%)HP:0002427
Fallen arches
Frequent (30-79%)HP:0001763
Flexion contractures
Frequent (30-79%)HP:0001371
Genital abnormalities
Frequent (30-79%)HP:0000078
Genu valga
Frequent (30-79%)HP:0002857
Happy demeanour
Frequent (30-79%)HP:0040082
Heart septal defect
Frequent (30-79%)HP:0001671
Hyperplasia of columella
Frequent (30-79%)HP:0010761
Hyperplasia of nasal tip
Frequent (30-79%)HP:0005274
Related Conditions
Hirschsprung disease and intellectual disability due to del(2)(q22)(child)
Autosomal dominant hereditary disorder(parent)
Digestive system hereditary disorder(parent)
Aganglionic megacolon(parent)
Inherited autonomic nervous system disorder(parent)
Developmental hereditary disorder(parent)
Autonomic neuropathy(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 703535000
- UMLS CUI
- C1856113
- Fully Specified Name
- Mowat-Wilson 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.