lung-brain developmental disorder

Term ID

DOID:0070804

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. https://pubmed.ncbi.nlm.nih.gov/42259295/

References

• MIM:621645

Ontology

Human Disease   ( DOID:0070804 )