Stromme syndrome

Term ID

DOID:0110595

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. https://www.ncbi.nlm.nih.gov/pubmed/25564561

References

• ICD10CM:Q87.8
• OMIM:243605

Ontology

Human Disease   ( DOID:0110595 )