Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria.
Name | Development Level | Target Family |
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Name | Description |
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TCRDv4.6.9
UniProt Disease
UniProt Disease