- Inflammation of the large intestine (HP:0002037, a Human Phenotype Ontology term): Inflammation, or an inflammatory state in the large intestine. Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/3. (PMID:35007328)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Cerebellar atrophy (HP:0001272, a Human Phenotype Ontology term): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: PCS. Frequency: 0/3. (PMID:35007328)
- Esophageal stricture (HP:0002043, a Human Phenotype Ontology term): A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. Evidence: PCS. Frequency: 2/3. (PMID:35007328)
- Chromosomal breakage induced by crosslinking agents (HP:0003221, a Human Phenotype Ontology term): Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. Evidence: PCS. Frequency: 0/3. (PMID:35007328)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Pancolitis (HP:0033256, a Human Phenotype Ontology term): Inflammation of the entire colon. Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Decreased total B cell count (HP:0010976, a Human Phenotype Ontology term): The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 3/3. (PMID:35007328)
- Sparse scalp hair (HP:0002209, a Human Phenotype Ontology term): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:35007328)
- Hypotelorism (HP:0000601, a Human Phenotype Ontology term): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Petechiae (HP:0000967, a Human Phenotype Ontology term): Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Bone marrow hypocellularity (HP:0005528, a Human Phenotype Ontology term): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. Frequency: 3/3. (PMID:35007328)
- Intrauterine growth retardation (HP:0001511, a Human Phenotype Ontology term): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Nail dystrophy (HP:0008404, a Human Phenotype Ontology term): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Oral leukoplakia (HP:0002745, a Human Phenotype Ontology term): A thickened white patch on the oral mucosa that cannot be rubbed off. Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Pancytopenia (HP:0001876, a Human Phenotype Ontology term): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Immunodeficiency (HP:0002721, a Human Phenotype Ontology term): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. Frequency: 3/3. (PMID:35007328)
- Premature birth (HP:0001622, a Human Phenotype Ontology term): The birth of a baby of less than 37 weeks of gestational age. Evidence: PCS. Frequency: 1/3. (PMID:35007328)
- Reduced total natural killer cell count (HP:0040218, a Human Phenotype Ontology term): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:35007328)
These phenotypes are associated with the disease dyskeratosis congenita, autosomal recessive 8 (OMIM:620133, an entry in Online Mendelian Inheritance in Man).