Microcephaly, Seizures, and Developmental Delay (MCSZ)

Microcephaly, Seizures, and Developmental Delay(来自ICD-11)

别称:

Developmental and Epileptic Encephalopathy 10

Epileptic Encephalopathy, Early Infantile, 10

Eiee10

Mcsz

Early Infantile Epileptic Encephalopathy 10

Dee10

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Microcephaly, Seizures, and Developmental Delay, also known as developmental and epileptic encephalopathy 10, is related to microcephaly and visual epilepsy. An important gene associated with Microcephaly, Seizures, and Developmental Delay is PNKP (Polynucleotide Kinase 3'-Phosphatase), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include brain and skeletal muscle, and related phenotypes are hyporeflexia and seizure

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