| 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:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000276 | Long face | |
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| HP:0000293 | Full cheeks | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000343 | Long philtrum | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000804 | Urinary xanthine stones | |
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| HP:0001083 | Ectopia lentis | |
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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:0001285 | Spastic tetraparesis | "Spastic weakness affecting all four limbs." [HPO:curators] |
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| HP:0001510 | Growth retardation | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002171 | Gliosis | |
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| HP:0002179 | Opisthotonus | |
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| HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [HPO:curators] |
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| HP:0002932 | Aldehyde oxidase deficiency | |
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| HP:0003166 | Increased urinary sulfite, thiosulfate, s-sulfocysteine, taurine, hypoxanthine, and xanthine | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003359 | Decreased urinary sulfate and urate | |
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| HP:0003447 | Axonal loss | |
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| HP:0003534 | Xanthine dehydrogenase deficiency | |
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| HP:0003537 | Hypouricemia | "An abnormally low level of uric acid in the blood." [HPO:curators] |
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| HP:0003570 | Molybdenum cofactor deficiency | |
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| HP:0003606 | Absent urinary urothione | |
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| HP:0003643 | Sulfite oxidase deficiency | |
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| HP:0003676 | Progressive disorder | |
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| HP:0003739 | Myoclonic spasms | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0010934 | Xanthinuria | "An increased concentration of `xanthine` (CHEBI:15318) in the `urine` (FMA:12274)." [HPO:gcarletti] |
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| HP:0011096 | Peripheral demyelination | "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] |
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| HP:0011814 | Increased urinary hypoxanthine | "An increased level of `hypoxanthine` (CHEBI:17368) in the `urine` (FMA:12274)." [HPO:probinson] |
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| HP:0011935 | Decreased urinary urate | "Decreased concentration of `urate` (CHEBI:46819) in the urine." [HPO:probinson] |
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| HP:0011942 | Increased urinary sulfite | "Increased concentration of `sulfate` (CHEBI:17359) in the urine." [HPO:probinson] |
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| HP:0011943 | Increased urinary thiosulfate | "Increased concentration of `thiosulfate(2-)` (CHEBI:16094) in the urine." [HPO:probinson] |
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| HP:0012471 | Thick vermilion border | "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] |
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