- Spontaneous esophageal perforation (HP:0005203): The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. Evidence: IEA. (OMIM:277320)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:277320)
- 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: IEA. (OMIM:277320)
- Malnutrition (HP:0004395): A deficiency in the intake of energy and nutrients. Evidence: IEA. (OMIM:277320)
- Ophthalmoplegia (HP:0000602): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: IEA. (OMIM:277320)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: IEA. (OMIM:277320)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:277320)
- Vascular dilatation (HP:0002617): An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). Evidence: IEA. (OMIM:277320)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: IEA. (OMIM:277320)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: IEA. (OMIM:277320)
- 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. (OMIM:277320)
- External ophthalmoplegia (HP:0000544): Paralysis of the external ocular muscles. Evidence: TAS. (OMIM:277320)
These phenotypes are associated with the disease oculogastrointestinal muscular dystrophy (OMIM:277320).