Dee10

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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. 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.

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