| 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:0000533 | Chorioretinal atrophy | |
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| HP:0000762 | Decreased nerve conduction velocities | |
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| HP:0001249 | Mental retardation | |
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| HP:0001254 | Lethargy | |
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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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001328 | Learning disability | |
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| HP:0001410 | Decreased liver function | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001987 | Hyperammonemia | |
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| HP:0002038 | Protein avoidance | |
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| HP:0002062 | Abnormality of the pyramidal tracts | "An abnormality of the pyramidal system of motor neurons, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [HPO:curators] |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002123 | Myoclonic seizures | "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators] |
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| HP:0002169 | Clonus | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002313 | Spastic paraparesis | |
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| HP:0002370 | Poor coordination | |
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| HP:0002495 | Impaired vibratory sense | "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:curators] |
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| HP:0002572 | Episodic vomiting | "Paroxysmal, recurrent episodes of vomiting." [HPO:curators] |
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| HP:0003812 | Phenotypic variability | |
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| HP:0006846 | Acute encephalopathy | |
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| HP:0007256 | Mild pyramidal signs | |
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| HP:0007894 | Hypopigmentation of the fundus | |
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| HP:0012026 | Hyperornithinemia | "Increased concentration of `ornithine` (CHEBI:18257) in the blood." [HPO:probinson] |
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| HP:0200119 | Acute hepatitis | |
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