| 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:0000250 | Dense calvaria | "An abnormal increase of density of the bones making up the calvaria." [HPO:curators] |
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| HP:0000280 | Coarse facial features | |
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| HP:0000365 | Hearing loss | |
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| HP:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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| HP:0000752 | Hyperactivity | |
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| HP:0000900 | Thickened ribs | |
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| HP:0000943 | Dysostosis multiplex | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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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:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001507 | Growth abnormality | |
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| HP:0001670 | Asymmetric septal hypertrophy | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0002014 | Diarrhea | |
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| HP:0002159 | Heparan sulfate excretion in urine | |
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| HP:0002208 | Coarse hair | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
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| HP:0002788 | Recurrent upper respiratory tract infections | |
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| HP:0003309 | Ovoid thoracolumbar vertebrae | |
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