Search Ontology:
Human Disease
immunodeficiency-centromeric instability-facial anomalies syndrome 2
- Term ID
- DOID:0090009
- Synonyms
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- ICF syndrome 2
- Definition
- An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/21596365
- References
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- ICD10CM:D84.8
- MIM:614069
- Ontology
- Human Disease ( DOID:0090009 )
- is a type of
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Genes Involved
Zebrafish Models