Chediak-Higashi Syndrome

Chediak-Higashi Syndrome, LYST-related   Gene: LYST Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only…

Hoof Wall Separation Syndrome (HWSS)

Hoof Wall Separation Syndrome (HWSS)   Gene: SERPINB11 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that…

Skeletal Atavism

Skeletal Atavism   Gene: SHOX Transmission: Autosomal recessive (pseudoautosomal region, sex chromosomes) For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals…

Dwarfism, chondrodysplasia

Dwarfism, chondrodysplasia   Gene: ACAN Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one…

Hydrocephalus, familial

Hydrocephalus, familial   Gene: B3GALNT2 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one…

Atlantoaxio-Occipital Malformation

Atlantoaxio-Occipital Malformation   Gene: HOXD3 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one…

Naked Foal Syndrome

Naked Foal Syndrome   Gene: ST14 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only…

Familial neonatal hypoparathyroidism

Familial neonatal hypoparathyroidism   Gene: RAPGEF5 Transmission: Autosomal recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only…

Primary Ciliary Dyskinesia (STK36 type)

Primary Ciliary Dyskinesia (STK36 type)   Gene: STK36 Transmission: Autosomal recessive For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that…

Recurrent pulmonary inflammatory disease

Recurrent pulmonary inflammatory disease   Gene: AKNA Transmission: Autosomal recessive For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have…