Disease #02842 (EIEE3 (encephalopathy, epileptic, early infantile, type 3 (EIEE-3)), OMIM:609304)

Official abbreviation EIEE3
Name encephalopathy, epileptic, early infantile, type 3 (EIEE-3)
OMIM ID 609304
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SLC25A22
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00153392 12706 - - F yes France - - - - - EIEE3 severe motor dysphasia, difficulties in chewing and swallowing, continuous drooling, accompanied by hemiparesis, microcephaly and progressive kyphoscoliosis, severe expressive speech dyspraxia, poor communication skills, could write simple words and could communicate DDX47 SLC25A22 1 1 Laurent Villard
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