Disease #04676 (EIEE-15 (encephalopathy, epileptic, early infantile, type 15 (EIEE-15)), OMIM:615006)

Official abbreviation EIEE-15
Name encephalopathy, epileptic, early infantile, type 15 (EIEE-15)
OMIM ID 615006
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ST3GAL3
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Disease features -
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Individuals

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00155023 23252400-Fam PubMed: Edvardson 2013 4-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Israel Palestinian - 0 - - EIEE-15 see paper; ..., infantile spasms flexor type mainly, appearing 3-7m, accompanied by hypsarrhythmic EEG-pattern; when grew older, seizures continued and evolved to Lennox-Gastaut syndrome; severe developmental delay evident first few months of life, predating seizure disorder - ST3GAL3 1 4 Andreas Kuss
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