- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: IEA. (OMIM:246400)
- Pulmonary infiltrates (HP:0002113). Evidence: IEA. (OMIM:246400)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: IEA. (OMIM:246400)
- Seborrheic dermatitis (HP:0001051): Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. Evidence: IEA. (OMIM:246400)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: IEA. (OMIM:246400)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: IEA. (OMIM:246400)
- Stomatitis (HP:0010280): Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. Evidence: IEA. (OMIM:246400)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: IEA. (OMIM:246400)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: IEA. (OMIM:246400)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:246400)
- 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: IEA. (OMIM:246400)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: IEA. (OMIM:246400)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: IEA. (OMIM:246400)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: IEA. (OMIM:246400)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: IEA. (OMIM:246400)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: IEA. (OMIM:246400)
These phenotypes are associated with the disease letterer-Siwe disease (OMIM:246400).