| 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: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:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001254 | Lethargy | |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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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:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001531 | Failure to thrive in infancy | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0001987 | Hyperammonemia | |
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| HP:0001992 | Organic aciduria | |
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| HP:0002013 | Vomiting | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002179 | Opisthotonus | |
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| HP:0002919 | Ketonuria | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004357 | Abnormality of leucine metabolism | |
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| HP:0004911 | metabolic acidosis, episodic | |
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| HP:0006573 | Macro- and microvesicular steatosis, acute | |
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| HP:0008281 | Hyperammonemia, acute | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0100022 | Abnormality of movement | "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson] |
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| HP:0100659 | Abnormality of the cerebral vasculature | |
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