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Congenital Hypothyroidism (A473T)

General description

Congenital hypothyroidism is an underactive thyroid caused by a mutation in the TPO (thyroid peroxidase) gene. Affected cats show dysproportional dwarfism. These include a large head with a shortened lower jaw and ears, legs that are too short, and, in some cases, a hunched back (kyphosis). In addition, delayed tooth eruption and neurological deficits may be observed. Other possible and rather nonspecific symptoms include loss of appetite, obesity, constipation, lethargy, or a persistent kitten coat.
Congenital hypothyroidism is usually diagnosed at a young age.

Breeds

European Shorthair

Test number Included only in LABOGeneticsXXL – Cat
Inheritance autosomal-recessive
Gene TPO
Mutation G-A
Literature OMIA:000536-9685