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Stromme syndrome
Summary
- Synonym
-
- CILD31
- apple peel syndrome with microcephaly and ocular anomalies
- 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.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110595
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
