primary ciliary dyskinesia 16

Term ID

DOID:0110613

Synonyms

• CILD16
• primary ciliary dyskinesia 16 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. (2)

References

• ICD10CM:Q34.8
• OMIM:614017

Ontology

Human Disease   ( DOID:0110613 )