Total 34 clinical symptoms reported for Biotinidase deficiency  Occasional (27)Frequent (7)

Abnormality of the eye	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.   Synonyms:Abnormal eye; Abnormality of the eye	Occasional
Alopecia	A noncongenital process of hair loss, which may progress to partial or complete baldness.   Synonyms:Hair loss	Occasional
Apnea	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.   Synonyms:Absence of spontaneous respiration; Apneic episodes; Apnoea	Occasional
Ataxia	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).   Synonyms:Cerebellar ataxia	Occasional
Bilateral tonic-clonic seizure	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.   Synonyms:Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions	Occasional
Conjunctivitis	Inflammation of the conjunctiva.   Synonyms:Pink eye	Occasional
Eczematoid dermatitis	This information is currently in development.	Occasional
Focal motor seizure	A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.   Synonyms:Focal motor seizures; Localized motor seizure; Localized motor seizures; Partial motor seizure; Partial motor seizures; Segmental motor seizure	Occasional
Generalized myoclonic seizure	A generalized myoclonic seizure is a type of generalized motor seizure characterised 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.   Synonyms:Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures	Occasional
Hearing impairment	A decreased magnitude of the sensory perception of sound.   Synonyms:Deafness; Hearing defect; Hearing impairment; Hypacusis	Occasional
Hyperventilation	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.   Synonyms:Rapid breathing	Occasional
Infantile spasms	Infantile spasms represent a subset of 'epileptic spasms'. Infantile Spasms are epileptic spasms starting in the first year of life (infancy).	Occasional
Intellectual disability	Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.   Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation	Occasional
Laryngeal stridor	An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.   Synonyms:Laryngeal stidor	Occasional
Lethargy	A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.   Synonyms:Lethargy	Occasional
Limb muscle weakness	Reduced strength and weakness of the muscles of the arms and legs.   Synonyms:Limb muscle weakness; Limb weakness	Occasional
Myelopathy	This information is currently in development.	Occasional
Nonprogressive visual loss	This information is currently in development.	Occasional
Optic atrophy	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.   Synonyms:Optic nerve atrophy; Optic-nerve degeneration	Occasional
Optic neuropathy	Synonyms:Damaged optic nerve	Occasional
Psychomotor retardation	Synonyms:Motormental retardation; Psychomotor impairment; Psychomotor slowing	Occasional
Recurrent candida infections	An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.   Synonyms:Frequent candida infections	Occasional
Recurrent fungal infections	Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.   Synonyms:Recurrent fungal infections	Occasional
Recurrent viral infections	Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.	Occasional
Respiratory distress	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.   Synonyms:Breathing difficulties; Labored breathing; Respiratory difficulties	Occasional
Scotoma	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.	Occasional
Spastic paraparesis	This information is currently in development.	Occasional