DISEASES

Disease-gene associations mined from literature

Human genes for primary ciliary dyskinesia 1

Primary ciliary dyskinesia 1 [DOID:0110594]

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.

Synonyms:  primary ciliary dyskinesia 1,  DOID:0110594,  CILD1,  primary ciliary dyskinesia 1 with or without situs inversus