Dog

Achromatopsia, also known as Early Cone Degeneration, causes daytime blindness due to degeneration of the retinal cones. It can be diagnosed in the first few weeks of a puppy's life. Affected dogs become colour blind and photophobic.

Acral Mutilation Syndrome is characterised by sensory neuropathy of the paws causing insensitivity to pain in the distal parts. Affected dogs usually show signs of extremity self-mutilation. Proprioception, motor skills and reflexes remain intact.

Ichthyosis, also known as autosomal recessive congenital ichthyosis (ARCI), is a non-inflammatory skin disease characterised by flaky or scaly skin. Clinical signs appear in puppies as early as 1 to 2 weeks of age. Affected dogs have a sticky, oily, yellowish substance around the eyes and ears. In severe cases, puppies are usually euthanised.

Familial nephropathy is a kidney disease with progressive destruction of both kidneys. The first symptoms are excessive water consumption, weight loss, reduced appetite and vomiting.

Benign familial juvenile epilepsy is a disease in which clinical signs appear between 5 and 12 weeks of age. Affected dogs exhibit convulsions characterised by generalised tremors, ataxia and stiffness.

Neonatal ataxia, also known as Bandera syndrome, is caused by a genetic mutation that alters the part of the nervous system that controls coordination and movement. Symptoms of neonatal ataxia include falling and inability to walk.

Cerebellar abiotrophy is a neurodegenerative disease. Affected puppies show a variety of symptoms including loss of balance and an asymmetric gait with an inability to regulate speed and amplitude of movement. 

Puppies with dry eye/curly coat syndrome have keratoconjunctivitis sicca in the eyes, a curly coat, and are generally smaller than their peers. The footpads are hyperkeratinised with abnormal claw growth.

L'insuffisance d'Adhérence Leucocytaire est une anomalie du système immunitaire. En raison de la mutation, les leucocytes ne détruisent pas les bactéries et les virus conduisant à la mort des chiots atteints.

Leukocyte Adhesion Deficiency is an abnormality of the immune system. Due to the mutation, the leukocytes do not destroy bacteria and viruses leading to the death of affected puppies.