Developmental and Epileptic Encephalopathy 53

Alternative Names

  • DEE53
  • Epileptic Encephalopathy, Early Infantile, 53
  • EIEE53

Associated Genes

Synaptojanin 1
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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

617389

Mode of Inheritance

Autosomal recessive

Gene Map Locus

21q22.11

Description

Developmental and epileptic encephalopathy-53 (DEE53) is a severe autosomal recessive neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617389.1.1Oman; United Arab Emir...FemaleYesYes Seizure; Global developmental delay; Hyp... NM_003895.3:c.709C>THomozygousAl Zaabi et al. 2018 Emirati of Omani ori...
617389.1.2Oman; United Arab Emir...FemaleYesYes Seizure; Global developmental delay; Hyp... NM_003895.3:c.709C>THomozygousAutosomal, RecessiveAl Zaabi et al. 2018 Relative of 617389.1...
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