Phenotypes associated with the disease sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (OMIM:252150):
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: TAS. (OMIM:252150)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. (OMIM:252150)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:252150)
- Decreased urinary urate (HP:0011935): Decreased concentration of urate in the urine. Evidence: TAS. (OMIM:252150)
- Increased urinary hypoxanthine level (HP:0011814): The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. (OMIM:252150)
- Molybdenum cofactor deficiency (HP:0003570): Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. Evidence: IEA. (OMIM:252150)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. (OMIM:252150)
- Abnormal muscle tone (HP:0003808). Evidence: IEA. (OMIM:252150)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. (OMIM:252150)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. (OMIM:252150)
- Absent urinary urothione (HP:0003606): Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. Evidence: IEA. (OMIM:252150)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:252150)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: IEA. (OMIM:252150)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. (OMIM:252150)
- Aldehyde oxidase deficiency (HP:0002932): A reduction in aldehyde oxidase level. Evidence: IEA. (OMIM:252150)
- 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. (OMIM:252150)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:252150)
- Axonal loss (HP:0003447): A reduction in the number of axons in the peripheral nervous system. Evidence: TAS. (OMIM:252150)
- Opisthotonus (HP:0002179): Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs. Evidence: TAS. (OMIM:252150)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: IEA. (OMIM:252150)
- Sulfite oxidase deficiency (HP:0003643): Abnormally reduced sulfite oxidase level. Evidence: IEA. (OMIM:252150)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. (OMIM:252150)
- Spastic tetraplegia (HP:0002510): Spastic paralysis affecting all four limbs. Evidence: TAS. (OMIM:252150)
- Xanthinuria (HP:0010934): An increased concentration of xanthine in the urine. Evidence: TAS. (OMIM:252150)
- Long face (HP:0000276): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: TAS. (OMIM:252150)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: TAS. (OMIM:252150)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. (OMIM:252150)
- Increased urinary taurine (HP:0003166): Increased concentration of taurine in the urine. Evidence: IEA. (OMIM:252150)
- Spastic tetraparesis (HP:0001285): Spastic weakness affecting all four limbs. Evidence: IEA. (OMIM:252150)
- Increased urinary sulfite level (HP:0011942): The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. (OMIM:252150)
- Gliosis (HP:0002171): Gliosis is the focal proliferation of glial cells in the central nervous system. Evidence: TAS. (OMIM:252150)
- Lens luxation (HP:0012019): Complete dislocation of the lens of the eye. Evidence: IEA. (OMIM:252150)
- Increased urinary thiosulfate (HP:0011943): Increased concentration of thiosulfate(2-) in the urine. Evidence: TAS. (OMIM:252150)
- Ectopia lentis (HP:0001083): Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. Evidence: IEA. (OMIM:252150)
- Elevated urinary S-sulfocysteine level (HP:0034744): Level of S-sulfocysteine high in urine above the upper limit of normal. Evidence: TAS. (OMIM:252150)
- Peripheral demyelination (HP:0011096): A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. Evidence: TAS. (OMIM:252150)
- Xanthine nephrolithiasis (HP:0000804): The presence of xanthine-containing calculi (stones) in the kidneys. Evidence: IEA. (OMIM:252150)
- Autosomal recessive inheritance (HP:0000007): 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: IEA. (OMIM:252150)
- Myoclonic spasms (HP:0003739). Evidence: IEA. (OMIM:252150)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. (OMIM:252150)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. (OMIM:252150)
- Hypouricemia (HP:0003537): The concentration of uric acid in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:252150)
- Reduced xanthine dehydrogenase level (HP:0003534): An abnormal reduction in xanthine dehydrogenase level. Evidence: IEA. (OMIM:252150)
- Decreased urinary sulfate (HP:0003359): Decreased concentration of sulfate in the urine. Evidence: TAS. (OMIM:252150)