| Term Name: | lung-brain developmental disorder |
|---|---|
| Synonyms: | LBDD |
| Definition: | A syndrome characterized by early-onset respiratory distress, chronic hypoxemia, diffuse parenchymal lung abnormalities on chest imaging, and developmental delay, with speech and language development more severely affected, that has_material_basis_in homozygous or compound heterozygous mutations in the TMEM63B gene on chromosome 6p21. |
| Ontology: | Human Disease [DOID:0070804] ( DOID:0070804 ) |