Disease #00281 (EIEE-4 (encephalopathy, epileptic, early infantile, type 4 (EIEE-4)), OMIM:612164)

Official abbreviation EIEE-4
Name encephalopathy, epileptic, early infantile, type 4 (EIEE-4)
OMIM ID 612164
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 2 genes STX10, STXBP1
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Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00081013 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - EIEE-4 Epileptic encephalopathy, early infantile, 4 (OMIM:612164) STXBP1 STXBP1 1 1 Daniel Trujillano
00081026 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - EIEE-4 Epileptic encephalopathy, early infantile, 4 (OMIM:612164) STXBP1 STXBP1 1 1 Daniel Trujillano
00227813 - PubMed: Tohyama 2008 - F - Japan - - 0 - - EIEE-4 slight psychomotor development with eye contact, no head control SPTAN1 SPTAN1 1 1 -
00227814 - PubMed: Tohyama 2008 - F - Japan - - 0 - - EIEE-4 severe spastic quadriplegia, no developmental progress, and poor visual attention. SPTAN1 SPTAN1 1 1 -
00227815 - PubMed: Tohyama 2008 - M - Japan - - 0 - - EIEE-4 severe spastic quadriplegia, no developmental progress, and poor visual attention. SPTAN1 SPTAN1 1 1 -
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