- Anti-islet antigen-2 antibody positivity (HP:0034063): The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2. Evidence: PCS. Frequency: 0/2. (PMID:28073829)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/4. (PMID:28073829)
- Nevus (HP:0003764): A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. Evidence: PCS. Frequency: 2/4. (PMID:28073829)
- T-cell acute lymphoblastic leukemias (HP:0006727): Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. Evidence: PCS. Frequency: 1/4. (PMID:28073829)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/4. (PMID:28073829)
- 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:28073829)
- Increased mean corpuscular volume (HP:0005518): Larger than normal size of erythrocytes. Evidence: PCS. Frequency: 2/4. (PMID:28073829)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: PCS. Frequency: 4/4. Onset: Juvenile onset (HP:0003621). (PMID:28073829)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: PCS. Frequency: 3/4. (PMID:28073829)
- Anti-glutamic acid decarboxylase antibody positivity (HP:0025329): The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. Evidence: PCS. Frequency: 0/2. (PMID:28073829)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/4. (PMID:28073829)
These phenotypes are associated with the disease bone marrow failure and diabetes mellitus syndrome (OMIM:620044).