|OBO ID: DOID:0090011|
|Term Name:||immunodeficiency-centromeric instability-facial anomalies syndrome 4||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0090011)|
|is a type of:||
OTHER immunodeficiency-centromeric instability-facial anomalies syndrome 4 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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