OFD1 and primary ciliary dyskinesia: Dr. Bukowy-Bieryllo reported X-linked recessive hemizygous mutations and one de novo mutation in the OFD1 gene, in patients with overall relatively mild features of orofaciodigital syndrome 1 (OFDS1) accompanied by PCD-like respiratory symptoms (neonatal respiratory distress, bronchiectasis, low nasal nitric oxide (nNO)) and in one case situs inversus (SI) [63].