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Gene s directly associated with this condition or phenotype. Microcephaly, seizures, and developmental delay MCSZ is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients develop refractory seizures in infancy, consistent with a developmental and epileptic encephalopathy DEE , whereas others have more well-controlled seizures and a more protracted course associated with cerebellar atrophy and peripheral neuropathy Shen et al. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see Additional description. From MedlinePlus Genetics 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.

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