| 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: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: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:0001508 | Failure to thrive | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001875 | Neutropenia | |
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| HP:0001876 | Pancytopenia | |
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| HP:0001903 | Anemia | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0001944 | Dehydration | |
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| HP:0001946 | Ketosis | |
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| HP:0001987 | Hyperammonemia | |
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| HP:0002013 | Vomiting | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002154 | Hyperglycinemia | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002912 | Methylmalonic acidemia | |
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| HP:0002919 | Ketonuria | |
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| HP:0003145 | Decreased adenosylcobalamin (ADOCBL) | |
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| HP:0003210 | Decreased methylmalonyl-CoA mutase activity | |
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| HP:0003623 | Onset in neonatal period | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0012120 | Methylmalonic aciduria | "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the urine." [HPO:probinson] |
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