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GTR Home > Conditions/Phenotypes > Microcephaly, seizures, and developmental delay

Microcephaly, seizures, and developmental delay

Synonyms
Early infantile epileptic encephalopathy 10

Summary

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., 2010 and Poulton et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

50 tests are in the database for this condition.

Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AOA4, CMT2B2, EIEE10, MCSZ, PNK, PNKP
    Summary: polynucleotide kinase 3'-phosphatase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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