OBO ID: DOID:0110595
Term Name: Stromme syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0110595 )
Relationships
is a type of:
OTHER Stromme syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CENPF Stromme syndrome 243605
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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