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microcephaly seizures and development delay (MCSZ)

It is characterized by microcephaly, infantile-onset seizures, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly.

OTHER NAME(S): EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10

ABREVIATION(S):
MCSZ
EIEE10

TYPE: neurodegenerative disease, microcephaly, mental retardation (MR)

DNAtraffic protein(s) related to disease: PNKP (PNK)

OMIM: 613402

Last modification date: July 30, 2011