deafness-small bowel diverticulosis-neuropathy syndrome
Findings
No curated finding names deafness-small bowel diverticulosis-neuropathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).
Definition from the Mondo Disease Ontology (MONDO:0009086), read 2026-09-29. CC BY 4.0.
Features
16 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.
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Chronic diarrheaHPOHP:0002028
- Very frequent (80% to 99% of cases)
- Duodenal ulcerHPOHP:0002588
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- HemiplegiaHPOHP:0002301
- Very frequent (80% to 99% of cases)
- MalabsorptionHPOHP:0002024
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- SteatorrheaHPOHP:0002570
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Abnormality of the pharynxHPOHP:0000600
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
Show the remaining 4
- Abnormality of eye movementHPOHP:0000496
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Occasional (5% to 29% of cases)
- Short palmHPOHP:0004279
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: deafness-small bowel diverticulosis-neuropathy syndrome
- Also called
- Groll-Hirschowitz syndrome