Term Name: primary ciliary dyskinesia 42
Synonyms: CILD42, primary ciliary dyskinesia 42 without situs inversus
Definition: A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2.
Ontology: Human Disease [DOID:0111855]   ( DOID:0111855 )

Relationships
is a type of: autosomal recessive disease primary ciliary dyskinesia