Phenotypes associated with the disease sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 (OMIM:621373, an entry in Online Mendelian Inheritance in Man):
- Hypertonia (HP:0001276, a Human Phenotype Ontology term): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 0/1. (PMID:28544736)
- Long philtrum (HP:0000343, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:28544736)
- Increased urinary hypoxanthine level (HP:0011814, a Human Phenotype Ontology term): The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- 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: 1/1. (PMID:33897766)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Phonic tics (HP:0100035, a Human Phenotype Ontology term): Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Encephalomalacia (HP:0040197, a Human Phenotype Ontology term): Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. Evidence: PCS. Frequency: 1/1. (PMID:33897766)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Autism (HP:0000717, a Human Phenotype Ontology term): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Recurrent pneumonia (HP:0006532, a Human Phenotype Ontology term): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Hyperuricosuria (HP:0003149, a Human Phenotype Ontology term): An abnormally high level of uric acid in the urine. Evidence: PCS. Frequency: 0/2. (PMID:33897766;PMID:28544736)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:28544736)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 2/2. (PMID:33897766;PMID:28544736)
- 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: 1/1. (PMID:33897766)
- Delayed ability to roll over (HP:0032989, a Human Phenotype Ontology term): Delayed achievement of the ability to roll front to back and back to front. Evidence: PCS. Frequency: 1/1. (PMID:33897766)
- Arachnodactyly (HP:0001166, a Human Phenotype Ontology term): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/1. (PMID:33897766)
- Sulfite oxidase deficiency (HP:0003643, a Human Phenotype Ontology term): Abnormally reduced sulfite oxidase level. Evidence: PCS. Frequency: 0/1. (PMID:28544736)
- Truncal ataxia (HP:0002078, a Human Phenotype Ontology term): Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Babinski sign (HP:0003487, a Human Phenotype Ontology term): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: PCS. Frequency: 0/1. (PMID:28544736)
- Xanthinuria (HP:0010934, a Human Phenotype Ontology term): An increased concentration of xanthine in the urine. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Developmental regression (HP:0002376, a Human Phenotype Ontology term): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: PCS. Frequency: 0/1. (PMID:28544736)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/1. (PMID:33897766)
- 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: PCS. Frequency: 1/1. (PMID:28544736)
- Secondary microcephaly (HP:0005484, a Human Phenotype Ontology term): Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Long toe (HP:0010511, a Human Phenotype Ontology term): Toes that appear disproportionately long compared to the foot. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Bilateral tonic-clonic seizure with generalized onset (HP:0025190, a Human Phenotype Ontology term): A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. Evidence: PCS. Frequency: 1/1. (PMID:33897766)
- Increased urinary thiosulfate (HP:0011943, a Human Phenotype Ontology term): Increased concentration of thiosulfate(2-) in the urine. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Severe global developmental delay (HP:0011344, a Human Phenotype Ontology term): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 1/1. (PMID:33897766)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Adducted thumb (HP:0001181, a Human Phenotype Ontology term): In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Persistent head lag (HP:0032988, a Human Phenotype Ontology term): The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. Evidence: PCS. Frequency: 1/1. (PMID:33897766)
- Sulfocysteinuria (HP:0032350, a Human Phenotype Ontology term): A increased concentration of sulfocysteine in the urine. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Long foot (HP:0001833, a Human Phenotype Ontology term): Increased back to front length of the foot. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Dental malocclusion (HP:0000689, a Human Phenotype Ontology term): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- 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:28544736)
- Cubitus valgus (HP:0002967, a Human Phenotype Ontology term): Abnormal positioning in which the elbows are turned out. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Hyperextensible hand joints (HP:0005639, a Human Phenotype Ontology term): The ability of the joints of the hand to move beyond their normal range of motion. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Drooling (HP:0002307, a Human Phenotype Ontology term): Habitual flow of saliva out of the mouth. Evidence: PCS. Frequency: 1/1. (PMID:28544736)
- Hyperuricemia (HP:0002149, a Human Phenotype Ontology term): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 0/2. (PMID:33897766;PMID:28544736)