Phenotypes associated with the disease primary intestinal lymphangiectasia (OMIM:152800):
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: IEA. (OMIM:152800)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: IEA. (OMIM:152800)
- Neonatal hypoproteinemia (HP:0008360): A neonatal decreased concentration of proteins in the blood. Evidence: IEA. (OMIM:152800)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: IEA. (OMIM:152800)
- Intestinal lymphangiectasia (HP:0002593): Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. Evidence: IEA. (OMIM:152800)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: IEA. (OMIM:152800)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: IEA. (OMIM:152800)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. (OMIM:152800)
- Prominent floating ribs (HP:0006641). Evidence: IEA. (OMIM:152800)
- 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:152800)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: IEA. (OMIM:152800)