eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital hypothyroidism |
| Comorbidity | C1145670|respiratory failure |
| Sentences | 1 |
| PubMedID- 21867529 | Ttf-1 haploinsufficiency secondary to deletions or mono-allelic mutations of the nkx2.1 gene has been recognized as a rare cause of neonatal or infantile respiratory failure, often associated with congenital hypothyroidism and/or benign hereditary chorea [16-20], referred to as "brain-lung-thyroid syndrome". |
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