| Metadata | |
|---|---|
| ID | DOID:0110595 |
| Name | Stromme syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/25564561 |
| Xrefs | |
| Synonyms |
apple peel syndrome with microcephaly and ocular anomalies [EXACT] CILD31 [EXACT] jejunal atresia with microcephaly and ocular anomalies [EXACT] lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome [EXACT] primary ciliary dyskinesia 31 [EXACT] |
| Parent Relationships |