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GENATLAS PHENOTYPE

last update : 18-12-2013

Symbol	MCSZ
Location	19q13.33
Name	microcephaly, seizures, and developmental delay
Other name(s)	microcephaly, early-onset, wirh intractable seizures epileptic encephalopathy, early infantile, 10
Corresponding gene	PNKP
Other symbol(s)	EIEE10
Main clinical features	microcephaly, infantile-onset seizures, developmental delay and variable behavioral problems, especially hyperactivity, mental retardation not having a higher frequency of common or uncommon infections, offering no clinical evidence of immunodeficiency MRI consistently show microcephaly with preserved brain structures, without apparent neuronal migration or other structural abnormalities, and with no evidence of degeneration
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)