Phenotype Spectrum for: biotinidase_deficiency

• Abnormality of the cerebellum
• Alopecia
• Apnea
• Ataxia
• Coma
• Generalized myoclonic seizures
• Global developmental delay
• Growth delay
• Hearing impairment
• Hypertonia
• Hyperventilation
• Iris hypopigmentation
• Keratoconjunctivitis
• Laryngeal stridor
• Lethargy
• Metabolic ketoacidosis
• Muscle weakness
• Muscular hypotonia
• Myopia
• Optic atrophy
• Perioral eczema
• Recurrent fungal infections
• Visual field defect