Disease #00281 (DEE4 (encephalopathy, developmental and epileptic, type 4), OMIM:612164)

Official abbreviation DEE4
Name encephalopathy, developmental and epileptic, type 4
OMIM ID 612164
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene STXBP1
Associated tissues -
Disease features -
Remarks -
Date created 2013-11-25 16:14:10 +01:00 (CET)
Date last edited 2024-02-02 17:40:39 +01:00 (CET)


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00081013 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - DEE4 Epileptic encephalopathy, early infantile, 4 (OMIM:612164) STXBP1 STXBP1 1 1 Daniel Trujillano
00081026 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - DEE4 Epileptic encephalopathy, early infantile, 4 (OMIM:612164) STXBP1 STXBP1 1 1 Daniel Trujillano
00227813 - PubMed: Tohyama 2008 - F - Japan - - - - - DEE4 slight psychomotor development with eye contact, no head control SPTAN1 SPTAN1 1 1 LOVD
00227814 - PubMed: Tohyama 2008 - F - Japan - - - - - DEE4 severe spastic quadriplegia, no developmental progress, and poor visual attention. SPTAN1 SPTAN1 1 1 LOVD
00227815 - PubMed: Tohyama 2008 - M - Japan - - - - - DEE4 severe spastic quadriplegia, no developmental progress, and poor visual attention. SPTAN1 SPTAN1 1 1 LOVD
00376335 180174 - - M no Germany - - - - - DEE4 Abnormality of the face, Ataxia, Hypotonia, Global developmental delay, Truncal ataxia, Polymicrogyria, Abnormal cortical gyration, Muscular hypotonia of the trunk, Infantile axial hypotonia, Abnormality of coordination, Neurodevelopmental delay STXBP1 STXBP1 1 1 Andreas Laner
00415877 203468 - - M no Germany - - - - - DEE4 Hypotonia, Myotonia of the face, Periventricular white matter hyperintensities, Delayed CNS myelination, Pineal cyst, Motor delay STXBP1 STXBP1 1 1 Andreas Laner
00464581 327391 - - F no Germany - - - - - DEE4 Neurodevelopmental delay, Motor delay, Delayed speech and language development, Ataxia STXBP1 STXBP1 1 1 Andreas Laner
00464606 197790 - - M yes Turkey - - - - - DEE4 Neurodevelopmental delay, Motor delay, Ataxia, Dystonia, Intellectual disability, Seizure STXBP1 STXBP1 1 1 Andreas Laner
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