Phenotypes associated with the disease volvulus of midgut (OMIM:193250):
- Neonatal intestinal obstruction (HP:0005234). Evidence: IEA. (OMIM:193250)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: IEA. (OMIM:193250)
- Volvulus (HP:0002580): Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. Evidence: TAS. (OMIM:193250)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: IEA. (OMIM:193250)
- Long palpebral fissure (HP:0000637): Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. Evidence: IEA. (OMIM:193250)
- Abnormality of the genitourinary system (HP:0000119): The presence of any abnormality of the genitourinary system. Evidence: IEA. (OMIM:193250)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. (OMIM:193250)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. (OMIM:193250)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:193250)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:193250)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: IEA. (OMIM:193250)