OBO ID: DOID:0090011 |
Term Name: | immunodeficiency-centromeric instability-facial anomalies syndrome 4 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0090011 ) |
OTHER immunodeficiency-centromeric instability-facial anomalies syndrome 4 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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