- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:440713)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:440713)
- Neonatal asphyxia (HP:0012768): Respiratory failure in the newborn. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:440713)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Abnormal renal tubule morphology (HP:0000091): An abnormality of the renal tubules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Shallow orbits (HP:0000586): Reduced depth of the orbits associated with prominent-appearing ocular globes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Diastasis recti (HP:0001540): A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Breech presentation (HP:0001623): A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Steatorrhea (HP:0002570): Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Cholestatic liver disease (HP:0002611). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Hypochromic microcytic anemia (HP:0004840): A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Severe postnatal growth retardation (HP:0008850): Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Abnormal CNS myelination (HP:0011400): An abnormality of myelination of nerves in the central nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Postprandial hyperglycemia (HP:0011998): An increased concentration of glucose in the blood following a meal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Subcortical cerebral atrophy (HP:0012157): Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
- Abnormality of globe location (HP:0100886): An abnormality in the placement of the ocular globe (eyeball). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:440713)
These phenotypes are associated with the disease Isolated sedoheptulokinase deficiency (ORPHA:440713).