" /> Microcephaly, seizures, and developmental delay - CISMeF





Preferred Label : Microcephaly, seizures, and developmental delay;

Symbol : MCSZ;

CISMeF acronym : EIEE10; MCSZ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE10; Epileptic encephalopathy, early infantile, 10; Developmental and epileptic encephalopathy 10; DEE10;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (PNKP, 605610.0001);

Laboratory abnormalities : Patient cells show defective DNA repair in response to irradiation and free radical damage;

Prefixed ID : #613402;

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25/07/2025


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