Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome (ICF)

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome(来自ICD-11)
别称:
Icf Syndrome
Immunodeficiency Syndrome, Variable
Icf
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Basic Information
Medical Symptom
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References Literature
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, also known as icf syndrome, is related to immunodeficiency-centromeric instability-facial anomalies syndrome 2 and chromosome 16p13.3 deletion syndrome, proximal, and has symptoms including diarrhea An important gene associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome is DNMT3B (DNA Methyltransferase 3 Beta), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. Affiliated tissues include b cells and eye, and related phenotypes are recurrent respiratory infections and short stature
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参考文献
MALACARDS
AR
Child
<1/1000000
44
396
15

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