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 )

Relationships
is a type of: primary ciliary dyskinesia