Phenotypes associated with the disease Deafness-small bowel diverticulosis-neuropathy syndrome (ORPHA:3217):
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3217)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3217)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3217)
- Hemiplegia (HP:0002301): Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3217)
- Steatorrhea (HP:0002570): Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3217)
- Duodenal ulcer (HP:0002588): An erosion of the mucous membrane in a portion of the duodenum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3217)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3217)
- Cachexia (HP:0004326): Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3217)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3217)
- Abnormality of the pharynx (HP:0000600): An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3217)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3217)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3217)
- Abnormality of eye movement (HP:0000496): An abnormality in voluntary or involuntary eye movements or their control. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3217)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3217)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3217)
- Short palm (HP:0004279): Short palm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3217)