Search Ontology:
Human Disease

immunodeficiency-centromeric instability-facial anomalies syndrome 4

Term ID
DOID:0090011
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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