- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 3/5. (PMID:18572020)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:613217)
- Intractable diarrhea (HP:0002041). Evidence: PCS. Frequency: 5/5. (PMID:18572020)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. Frequency: 5/5. (PMID:18572020)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/5. (PMID:18572020)
- Crypt hyperplasia (HP:0034588): Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling. Evidence: PCS. Frequency: 5/5. (PMID:18572020)
- 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: PCS. (PMID:18572020)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:613217)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/5. (PMID:18572020)
These phenotypes are associated with the disease congenital diarrhea 5 with tufting enteropathy (OMIM:613217).