Disease #05761 (EIEE54 (encephalopathy, epileptic, early infantile, type 54 (EIEE54)), OMIM:617391)

Official abbreviation EIEE54
Name encephalopathy, epileptic, early infantile, type 54 (EIEE54)
OMIM ID 617391
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene HNRNPU
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Individuals

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00332514 175443 - - M ? Germany - - 0 - - EIEE54 (+) Seizure,(+) Global developmental delay,(+) Focal motor seizure,(+) Neonatal seizure HNRNPU HNRNPU 1 1 Andreas Laner
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