- Abnormal intestine morphology (HP:0002242): An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. Evidence: TAS. (OMIM:251850)
- Protracted diarrhea (HP:0004385). Evidence: PCS. Frequency: 11/11. (PMID:18724368)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: TAS. (OMIM:251850)
- Malnutrition (HP:0004395): A deficiency in the intake of energy and nutrients. Evidence: TAS. (OMIM:251850)
- Dehydration (HP:0001944). Evidence: TAS. (OMIM:251850)
- 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: TAS. (OMIM:251850)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: TAS. (OMIM:251850)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. (OMIM:251850)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 11/11. (PMID:18724368)
These phenotypes are associated with the disease microvillus inclusion disease (OMIM:251850).