Stromme syndrome

Stromme syndrome: 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 ...1

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Stromme syndrome: 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 ...2

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Symptoms of Stromme syndrome

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Names and Terminology

Synonyms: APPLE PEEL SYNDROME WITH MICROCEPHALY AND OCULAR ANOMALIES ; Ciliary dyskinesia, primary, 31 ...Source: GTR (NCBI/NIH)3 ...

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References

  1. Source: Disease Ontology
  2. Source: Monarch Initiative
  3. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1855705/ 

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