Congenital Disorders With a Known Molecular Basis

Cat

Gangliosidosis (GM₁, GM₂)

Alpha-Mannosidosis

Mucopolysaccharidosis (I, VI, VII)

Muscular dystrophy (Duchenne, Becker)

Dog

Complement component 3 (C3) deficiency

Alpha-Fucosidosis

Glycogen storage disease (I, VII)

Hemophilia B

Krabbe disease

Leukocyte adhesion deficiency

Mucopolysaccharidosis (I, VII)

Muscular dystrophy (Becker, Duchenne [X-linked])

Myotonia

Narcolepsy

Nephritis (X-linked)

Pyruvate kinase deficiency of RBCs

Rod-cone dysplasia

Severe combined immunodeficiency

Tremor (X-linked)

Von Willebrand disease (III)

Cattle

Arthrogryposis multiplex (Angus, Angus-influenced breeds)

Brachyspina syndrome (Holstein)

Chédiak-Higashi syndrome

Citrullinemia

Complex vertebral malformation (Holstein)

Deficiency of uridine monophosphate synthetase (Holstein)

Ehlers-Danlos syndrome (II, V)

Glycogen storage disease

Goiter, familial (Holstein)

Leukocyte adhesion deficiency

Alpha-Mannosidosis

Beta-Mannosidosis

Maple syrup urine disease

Muscular hypertrophy (Shorthorn, Maine-Anjou)

Progressive degenerative myeloencephalopathy (Brown Swiss)

Protoporphyria

Pulmonary hypoplasia with anasarca (Shorthorn)

Spinal muscular atrophy (Brown Swiss)

Syndactyly (Holstein, Angus)

Tibial hemimelia (Shorthorn, Maine-Anjou)

Sheep

Ceroid lipofuscinosis

Chondrodysplasia

Glycogen storage disease (IV)

Goat

Decreased casein concentration

Goiter, familial

Beta-Mannosidosis

Mucopolysaccharidosis (III)

Polled intersex syndrome

Horse

Hyperkalemic periodic paralysis (Quarter Horse, Paint, others)

Megacolon

Severe combined immunodeficiency (Arabian)

Pig

Hypercholesterolemia

Malignant hyperthermia