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 )

Relationships
is a type of: autosomal recessive disease syndrome