| 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: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: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: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:0001297 | Stroke | |
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| HP:0001394 | Cirrhosis | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001950 | Respiratory alkalosis | |
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| HP:0001951 | Episodic ammonia intoxication | |
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| HP:0001987 | Hyperammonemia | |
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| HP:0002013 | Vomiting | |
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| HP:0002038 | Protein avoidance | |
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| HP:0002181 | Cerebral edema | "Abnormal accumulation of fluid in the brain." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0003217 | High plasma glutamine | |
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| HP:0003218 | Oroticaciduria | |
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| HP:0003623 | Onset in neonatal period | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0005961 | Arginine deficiency | |
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