| 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:0000083 | Renal failure | |
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| HP:0000124 | Renal tubular dysfunction | |
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| HP:0000648 | Optic atrophy | |
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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:0001259 | Coma | |
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| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
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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:0001266 | Choreoathetosis | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001297 | Stroke | |
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| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001733 | Pancreatitis | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001875 | Neutropenia | |
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| HP:0001882 | Leukopenia | |
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| HP:0001903 | Anemia | |
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| HP:0001944 | Dehydration | |
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| HP:0001970 | Tubulointerstitial nephritis | |
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| HP:0001987 | Hyperammonemia | |
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| HP:0002013 | Vomiting | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002039 | Anorexia | |
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| HP:0002098 | Respiratory distress | |
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| HP:0002154 | Hyperglycinemia | |
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| HP:0002188 | Delayed myelination | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002453 | Abnormality of the globus pallidus | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002912 | Methylmalonic acidemia | |
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| HP:0003774 | End stage renal disease | |
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| HP:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
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| HP:0005979 | Metabolic ketoacidosis | |
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| HP:0011695 | Cerebellar hemorrhage | "`Hemorrhage` (MPATH:119) into the parenchyma of the cerebellum." [HPO:probinson] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012120 | Methylmalonic aciduria | "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the urine." [HPO:probinson] |
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| HP:0100806 | Sepsis | |
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