Mowat-Wilson syndrome due to monosomy 2q22
MONDO:0016855Mondo
Findings
No curated finding names Mowat-Wilson syndrome due to monosomy 2q22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
127 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)
- Aganglionic megacolonHPOHP:0002251
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- Atypical absence seizureHPOHP:0007270
- Frequent (30% to 79% of cases)
Show the remaining 115
- 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)
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
Where it sits
Other names
6 names
Resolves to: Mowat-Wilson syndrome due to monosomy 2q22
- Also called
- Hirschsprung disease and intellectual disability due to 2q22 microdeletionHirschsprung disease and intellectual disability due to del(2)(q22)Hirschsprung disease and intellectual disability due to monosomy 2q22Mowat-Wilson syndrome due to 2q22 microdeletionMowat-Wilson syndrome due to del(2)q(22)Mowat-Wilson syndrome due to monosomy type 2q22