Disease #06522 (EIEE53 (Epileptic encephalopathy, early infantile, 53), OMIM:617389)

Official abbreviation EIEE53
Name Epileptic encephalopathy, early infantile, 53
OMIM ID 617389
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 SYNJ1
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

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00405036 107758 - - M yes Turkey - - - - - EIEE53 Global developmental delay, Seizure, Generalized-onset seizure, Gait disturbance, Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure precipitated by febrile infection, EEG abnormality, Abnormal cerebral white matter morphology, Abnormal cerebral morphology, Abnormality of visual evoked potentials, Abnormal timing of flash visual evoked potentials, Abnormality of metabolism/homeostasis, Hypotonia, Infantile axial hypotonia, Recurrent fever, Fever, Oral motor hypotonia, Restlessness, Short attention span SYNJ1 SYNJ1 1 1 Andreas Laner
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