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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 106

Developmental and epileptic encephalopathy 106

Summary

Developmental and epileptic encephalopathy-106 (DEE106) is an autosomal recessive disorder characterized by the onset of various types of frequent, often refractory, seizures within the first year of life. Affected individuals demonstrate profound global developmental delay with limited ability to move and severely impaired intellectual development with absent speech. Nonspecific brain abnormalities may be observed on MRI (Ni et al., 2021). 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: BHD, C4orf20, DEE106, SEMDDR, UFSP2
    Summary: UFM1 specific peptidase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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