NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.
MONDO:0002254
syndromic disease
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MONDO:0003847
hereditary disease
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MONDO:0005151
endocrine system disorder
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