| 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:0000365 | Hearing loss | |
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| HP:0000503 | Tortuosity of conjunctival vessels | |
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| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
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| HP:0000752 | Hyperactivity | |
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| HP:0001014 | Angiokeratoma | |
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| HP:0001249 | Mental retardation | |
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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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0001999 | Facial dysmorphism | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002719 | Recurrent infections | |
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| HP:0005247 | Abdominal muscular hypoplasia | |
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| HP:0007108 | Demyelinating peripheral neuropathy | |
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| HP:0012066 | Increased urinary disaccharide excretion | "Increased concentration of `disaccharide` (CHEBI:36233) in the urine." [HPO:probinson] |
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