Disease #05065 (DEE28;EIEE28 (encephalopathy, developmental and epileptic, type 28), OMIM:616211)

Official abbreviation DEE28;EIEE28
Name encephalopathy, developmental and epileptic, type 28
OMIM ID 616211
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene WWOX
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 11:00:40 +02:00 (CEST)
Date last edited 2022-11-28 12:07:49 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00080800 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - - - - DEE28;EIEE28 Epileptic encephalopathy, early infantile, 28, Autosomal recessive (OMIM:616211) WWOX WWOX 2 1 Daniel Trujillano
00080822 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - DEE28;EIEE28 Epileptic encephalopathy, early infantile, 28 (OMIM:616211) WWOX WWOX 1 1 Daniel Trujillano
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