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Developmental and epileptic encephalopathy, 33
Developmental and epileptic encephalopathy-33 (DEE33) is a neurologic disorder characterized by the onset of various types of seizures in the first months of life. Affected individuals show severe global developmental delay with impaired intellectual development and poor or absent speech (summary by de Ligt et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]
Intellectual disability, autosomal dominant 38
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene. [from MONDO]
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