- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/3. (PMID:24507776)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/3. (PMID:24507776)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: PCS. Frequency: 0/3. (PMID:24507776)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/3. (PMID:24507776)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 3/3. (PMID:24507776)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 3/3. (PMID:24507776)
- 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:24507776)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: PCS. Frequency: 1/3. (PMID:24507776)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. Frequency: 3/3. (PMID:24507776)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 3/3. (PMID:24507776)
These phenotypes are associated with the disease pancytopenia-developmental delay syndrome (OMIM:615715).