Disease_Mapped_To_Gene
Cellosaurus Disease Terminology
BTD Gene
Cellosaurus Terminology
Congenital Metabolic Disorder
Rare Non-Neoplastic Disorder
Biotinidase Deficiency
A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia.
Biotinidase Deficiency
Biotinidase Deficiency
C0220754
C84598
Cellosaurus
Disease or Syndrome
NICHD
NICHD Terminology
Neonatal Research Network Terminology