FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Stromme syndrome ID (Ontology) DOID:0110595 (Human Disease)
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.
Also Known As "apple peel syndrome with microcephaly and ocular anomalies" ; "CILD31" ; "jejunal atresia with microcephaly and ocular anomalies" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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  ciliopathy
   |__primary ciliary dyskinesia
       |__Stromme syndrome
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Synonyms
  • "apple peel syndrome with microcephaly and ocular anomalies" EXACT
    "CILD31" EXACT OMO:0003012
    "jejunal atresia with microcephaly and ocular anomalies" EXACT
    "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT
    "primary ciliary dyskinesia 31" EXACT
Secondary IDs
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ICD10CM:Q87.8
MIM:243605