| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0000967 | Petechiae | |
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| HP:0001008 | Accumulation of melanosomes in melanocytes | |
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| HP:0001010 | Hypopigmentation of the skin | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001276 | Hypertonia | |
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| HP:0001317 | Abnormality of the cerebellum | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001875 | Neutropenia | |
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| HP:0001876 | Pancytopenia | |
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| HP:0001945 | Fever | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002113 | Pulmonary infiltrates | |
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| HP:0002216 | Premature graying of hair | |
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| HP:0002218 | Silver-gray hair | |
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| HP:0002220 | Melanin pigment aggregation in hair shafts | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002344 | Progressive neurologic deterioration | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002972 | Reduced delayed hypersensitivity | |
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| HP:0003077 | Hyperlipidemia | |
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| HP:0003593 | Early onset | |
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| HP:0003819 | Death in childhood | |
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| HP:0005599 | Hair hypopigmentation | |
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| HP:0007443 | Partial albinism | |
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| HP:0007730 | Reduced iris pigmentation | |
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| HP:0012156 | Hemophagocytosis | "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [HPO:probinson] |
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