Immunodeficiency-centromeric instability-facial anomalies syndrome 4
MONDO:0014829Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.
Also known as: HELLS immunodeficiency-centromeric instability-facial anomalies syndrome, immunodeficiency-centromeric instability-Facial anomalies syndrome 4, immunodeficiency-centromeric instability-Facial anomalies syndrome type 4, immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS, immunodeficiency-centromeric instability-facial anomalies syndrome type 4, ICF4, immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4
3 clinical trials for this condition and its sub-types.
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Disease
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Hereditary disease
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Human disease
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Telomere syndrome
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Premature aging syndrome
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Autosomal recessive disease
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Disease of genetic or genomic mechanism
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Immunodeficiency-centromeric instability-facial anomalies syndrome
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