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immunodeficiency-centromeric instability-facial anomalies syndrome 2 | RareConnect | RareConnect.io

/immunodeficiency-centromeric instability-facial anomalies syndrome

/immunodeficiency-centromeric instability-facial anomalies syndrome 2

immunodeficiency-centromeric instability-facial anomalies syndrome 2

Rare Disease

MONDO:0013553

Also Known As

ICF syndrome 2ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndromeimmunodeficiency-centromeric instability-Facial anomalies syndrome type 2immunodeficiency-centromeric instability-facial anomalies syndrome 2immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24immunodeficiency-centromeric instability-facial anomalies syndrome type 2ICF2

Definition

Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 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:614069 ↗

GARD

Related Diseases

immunodeficiency-centromeric instability-facial anomalies syndrome 1

MONDO:0009454

immunodeficiency-centromeric instability-facial anomalies syndrome 3

MONDO:0014828

immunodeficiency-centromeric instability-facial anomalies syndrome 4

MONDO:0014829

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