" /> Immunodeficiency 26 with or without neurologic abnormalities - CISMeF





Preferred Label : Immunodeficiency 26 with or without neurologic abnormalities;

Symbol : IMD26;

CISMeF acronym : IMD26;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA-activated protein kinase, catalytic subunit gene (PRKDC, 600899.0001);

Prefixed ID : #615966;

Details


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04/05/2025


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