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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 102

Developmental and epileptic encephalopathy 102

Summary

Developmental and epileptic encephalopathy-102 (DEE102) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak. Most patients have onset of variable types of seizures within the first year of life, and the seizures tend to be refractory. Additional features include progressive microcephaly, visual impairment, axial hypotonia, peripheral hypertonia, and nonspecific brain imaging abnormalities (Marafi et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DEE102, G17, NAT1, SN1, SNAT3, SLC38A3
    Summary: solute carrier family 38 member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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