Human genes for Stromme syndrome
Stromme syndrome [DOID:0110595]
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.
Synonyms: Stromme syndrome, DOID:0110595, Stromme disease, Stromme disorder, Stromme syndromes ...