Microcephaly, seizures, and developmental delay

Microcephaly, seizures, and developmental delay (MCSZ) is a condition characterized by an abnormally small head size (microcephaly) and neurological problems related to impaired brain development before birth. Affected individuals typically have recurrent seizures (epilepsy) beginning in infancy and delayed development of motor skills, such as sitting and walking. Speech is also delayed, and some affected individuals are never able to speak. Intellectual disability and behavior problems, primarily hyperactivity, are also common features of MCSZ. Rarely, individuals with MCSZ also have poor balance and coordination (ataxia).

Other names

EIEE10; Epileptic encephalopathy, early infantile, 10; MCSZ

Inheritance pattern

Autosomal recessive

Related genes

PNKP

Source: MedlinePlus Genetics, U.S. National Library of Medicine.