Phenotype Spectrum for: holocarboxylase_synthetase_deficiency

• Alopecia
• Anorexia
• Ataxia
• Coma
• Eczema
• Emesis
• Exanthem
• Feeding difficulties in infancy
• Global developmental delay
• Growth delay
• Hyperammonemia
• Hypertonia
• Hyperventilation
• Increased respiratory rate or depth of breathing
• Irritability
• Keratoconjunctivitis
• Lethargy
• Low platelet count
• Metabolic acidosis
• Muscular hypotonia
• Nausea and vomiting
• Organic aciduria
• Perioral eczema
• Respiratory distress
• Seizures
• Tachypnea
• Thrombocytopenia
• Weight loss