Phenotypes associated with the disease Biotinidase deficiency (ORPHA:79241):
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Organic aciduria (HP:0001992): Excretion of non-amino organic acids in urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79241)
- Metabolic ketoacidosis (HP:0005979): A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79241)
- Decreased circulating biotinidase concentration (HP:0410145): Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79241)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79241)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79241)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79241)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79241)
- Hypotonia (HP:0001252): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79241)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79241)
- Abnormality of the immune system (HP:0002715): An abnormality of the immune system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79241)
- Brain imaging abnormality (HP:0410263): An anomaly of metabolism or structure of the brain identified by imaging. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79241)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Scotoma (HP:0000575): A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Optic neuropathy (HP:0001138). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Global developmental delay (HP:0001263): 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. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Respiratory distress (HP:0002098): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Generalized myoclonic seizure (HP:0002123): A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Myelopathy (HP:0002196): Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Spastic paraparesis (HP:0002313): Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Recurrent fungal infections (HP:0002841): Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Hyperventilation (HP:0002883): Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Limb muscle weakness (HP:0003690): Reduced strength and weakness of the muscles of the arms and legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Recurrent viral infections (HP:0004429): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Recurrent Candida infection (HP:0005401): Increased susceptibility to Candida infections as manifested by recurrent episodes of Candida infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Laryngeal stridor (HP:0006511): An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Focal motor seizure (HP:0011153): A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Infantile spasms (HP:0012469): Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)
- Nonprogressive visual loss (HP:0200068). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79241)