Term Name: | Stromme syndrome |
---|---|
Synonyms: | apple peel syndrome with microcephaly and ocular anomalies, CILD31, jejunal atresia with microcephaly and ocular anomalies, lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome, primary ciliary dyskinesia 31 |
Definition: | 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. |
Ontology: | Human Disease [DOID:0110595] ( DOID:0110595 ) |