OBO ID: DOID:0090011
Term Name: immunodeficiency-centromeric instability-facial anomalies syndrome 4 Search Ontology:
Synonyms:
  • ICF syndrome 4
Definition: An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23.https://www.ncbi.nlm.nih.gov/pubmed/26216346
References:
Ontology: Human Disease   (DOID:0090011)
Relationships
is a type of:
OTHER immunodeficiency-centromeric instability-facial anomalies syndrome 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4 616911
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None