| Symbol
| TGDRD
|
| Location
| 14q13.3
|
| Name
|
congenital thyroglobulin defect with respiratory distress |
| Other name(s)
|
brain-lung-thyroid syndrome
choreathetosis, hypothyroidism, and neonatal respiratory distress |
| Corresponding gene
|
NKX2-1
|
| Other symbol(s)
| BTLS
|
| Main clinical features
|
dyskinesia, neonatal respiratory distress, and hyperthyrotropinemia |
| Genetic determination
| autosomal recessive |
|
| autosomal dominant |
| Related entries
| incuding cases of lethal respiratory failure and compensated primary hypothyroidism (Maquet 2009)
|
| Function/system disorder
| endocrinology |
|
| neurology |
| Type
| disease
|