NEW GENETIC DISORDER

About:

• The disorder is caused by mutations in a gene known as ornithine decarboxylase 1 (ODC1) and is defined by a number of clinical features including large birth weight, enlarged head size, hair loss, reduced muscle strength, skin lesions, hearing loss and developmental delays.
  
  
• The disorder has still to be named and its long-term effects, which include impacts on the neurological system, are not completely known.
  
  
• The disorder was first described by researchers in a transgenic mouse model more than 20 years ago.