| 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:0000737 | Irritability | |
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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: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:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001259 | Coma | |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001276 | Hypertonia | |
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| HP:0001287 | Meningitis | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001882 | Leukopenia | |
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| HP:0001903 | Anemia | |
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| HP:0001915 | Aplastic anemia | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002301 | Hemiplegia | "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0002383 | Encephalitis | |
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| HP:0002445 | Tetraplegia | |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002902 | Hyponatremia | |
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| HP:0002922 | Increased CSF protein | |
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| HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
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| HP:0003075 | Hypoproteinemia | |
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| HP:0003281 | Increased serum ferritin | |
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| HP:0003573 | Increased total bilirubin | |
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| HP:0005528 | Bone marrow hypoplasia | |
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| HP:0007430 | Generalized edema | "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:curators] |
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| HP:0008151 | Prolonged prothrombin and partial thromboplastin times | |
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| HP:0011900 | Hypofibrinogenemia | "Decreased concentration of fibrinogen in the blood." [HPO:probinson] |
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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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| HP:0012229 | CSF pleocytosis | "An increased white blood cell count in the cerebrospinal fluid." [HPO:probinson] |
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