- Dystonia (HP:0001332, a Human Phenotype Ontology term): 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. Evidence: TAS. (OMIM:615512)
- Myopathy (HP:0003198, a Human Phenotype Ontology term): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. (OMIM:615512)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/2. (PMID:20374271)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:615512)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/2. (PMID:20374271)
- Unsteady gait (HP:0002317, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:615512)
- Respiratory failure (HP:0002878, a Human Phenotype Ontology term): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: PCS. Frequency: 2/2. (PMID:20374271)
- Muscle weakness (HP:0001324, a Human Phenotype Ontology term): Reduced strength of muscles. Evidence: TAS. (OMIM:615512)
- Death in infancy (HP:0001522, a Human Phenotype Ontology term): Death within the first 24 months of life. Evidence: PCS. Frequency: 1/2. (PMID:20374271)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: TAS. (OMIM:615512)
- Prolonged neonatal jaundice (HP:0006579, a Human Phenotype Ontology term): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: PCS. Frequency: 2/2. (PMID:20374271)
- Jaundice (HP:0000952, a Human Phenotype Ontology term): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. (OMIM:615512)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:20374271)
- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. (OMIM:615512)
- Progressive muscle weakness (HP:0003323, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:615512)
- Oligohydramnios (HP:0001562, a Human Phenotype Ontology term): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/2. (PMID:20374271)
- Hyporeflexia (HP:0001265, a Human Phenotype Ontology term): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. (OMIM:615512)
- Cerebral atrophy (HP:0002059, a Human Phenotype Ontology term): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: PCS. Frequency: 1/2. (PMID:20374271)
- Respiratory distress (HP:0002098, a Human Phenotype Ontology term): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. Frequency: 2/2. (PMID:20374271)
- Chronic hemolytic anemia (HP:0004870, a Human Phenotype Ontology term): An chronic form of hemolytic anemia. Evidence: PCS. Frequency: 2/2. (PMID:20374271)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. (OMIM:615512)
- Cholelithiasis (HP:0001081, a Human Phenotype Ontology term): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. (OMIM:615512)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/2. (PMID:20374271)
- Cholecystitis (HP:0001082, a Human Phenotype Ontology term): The presence of inflammatory changes in the gallbladder. Evidence: TAS. (OMIM:615512)
- Death in adolescence (HP:0011421, a Human Phenotype Ontology term): Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years). Evidence: PCS. Frequency: 1/2. (PMID:20374271)
- Kyphosis (HP:0002808, a Human Phenotype Ontology term): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. (OMIM:615512)
- Peripheral neuropathy (HP:0009830, a Human Phenotype Ontology term): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. (OMIM:615512)
- Hemolytic anemia (HP:0001878, a Human Phenotype Ontology term): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. (OMIM:615512)
- Congestive heart failure (HP:0001635, a Human Phenotype Ontology term): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. (OMIM:615512)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:20374271)
- Respiratory insufficiency due to muscle weakness (HP:0002747, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:615512)
- Optic disc pallor (HP:0000543, a Human Phenotype Ontology term): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:615512)
- Spasticity (HP:0001257, a Human Phenotype Ontology term): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. (OMIM:615512)
- Normochromic anemia (HP:0001895, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:615512)
- Macrocytic anemia (HP:0001972, a Human Phenotype Ontology term): A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). Evidence: PCS. Frequency: 1/2. (PMID:20374271)
- Tremor (HP:0001337, a Human Phenotype Ontology term): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. (OMIM:615512)
- Normocytic anemia (HP:0001897, a Human Phenotype Ontology term): A kind of anemia in which the volume of the red blood cells is normal. Evidence: TAS. (OMIM:615512)
These phenotypes are associated with the disease triosephosphate isomerase deficiency (OMIM:615512, an entry in Online Mendelian Inheritance in Man).