- Abnormal mitral valve morphology (HP:0001633): Any structural anomaly of the mitral valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1876)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1876)
- Gastroparesis (HP:0002578): Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1876)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1876)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1876)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1876)
- 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:1876)
- Intestinal pseudo-obstruction (HP:0004389): A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1876)
- Abnormality of the gastrointestinal tract (HP:0011024): An abnormality of the gastrointestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1876)
- 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: Very frequent (HP:0040281). (ORPHA:1876)
- External ophthalmoplegia (HP:0000544): Paralysis of the external ocular muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1876)
- Abnormal gastric mucosa morphology (HP:0004295): An abnormality of the gastric mucous membrane. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1876)
- Spontaneous esophageal perforation (HP:0005203): The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1876)
These phenotypes are associated with the disease Oculogastrointestinal muscular dystrophy (ORPHA:1876).