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immunodeficiency-centromeric instability-facial anomalies syndrome 1 | RareConnect | RareConnect.io

/immunodeficiency-centromeric instability-facial anomalies syndrome

/immunodeficiency-centromeric instability-facial anomalies syndrome 1

immunodeficiency-centromeric instability-facial anomalies syndrome 1

Rare Disease

MONDO:0009454

Also Known As

DNMT3B immunodeficiency-centromeric instability-facial anomalies syndromeICF syndrome 1immunodeficiency-centromeric instability-Facial anomalies syndrome type 1immunodeficiency-centromeric instability-facial anomalies syndrome 1immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3Bimmunodeficiency-centromeric instability-facial anomalies syndrome type 1ICF1centromeric instability, immunodeficiency syndromeimmune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16immunodeficiency syndrome, variable

Definition

Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:242860 ↗

GARD

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immunodeficiency-centromeric instability-facial anomalies syndrome 4

MONDO:0014829

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