Mowat-Wilson syndrome due to a ZEB2 point mutation
MONDO:0016856Mondo
Findings
No curated finding names Mowat-Wilson syndrome due to a ZEB2 point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
147 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Absent speechHPOHP:0001344
- Very frequent (80% to 99% of cases)
- Expressive language delayHPOHP:0002474
- Very frequent (80% to 99% of cases)
- Happy demeanorHPOHP:0040082
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Abnormal corpus callosum morphologyHPOHP:0001273
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Abnormal hippocampus morphologyHPOHP:0025100
- Frequent (30% to 79% of cases)
- Abnormality of the genitourinary systemHPOHP:0000119
- Frequent (30% to 79% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Frequent (30% to 79% of cases)
- Aganglionic megacolonHPOHP:0002251
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
Show the remaining 135
- Atypical absence seizureHPOHP:0007270
- Frequent (30% to 79% of cases)
- Bowel incontinenceHPOHP:0002607
- Frequent (30% to 79% of cases)
- Broad eyebrowHPOHP:0011229
- Frequent (30% to 79% of cases)
- Broad-based gaitHPOHP:0002136
- Frequent (30% to 79% of cases)
- Convex nasal ridgeHPOHP:0000444
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Mowat-Wilson syndrome due to a ZEB2 point mutation
- Also called
- Hirschsprung disease and intellectual disability due to a ZEB2 point mutation