Disease #00119 (EPVB6D (Early Onset Epilepsy, Vitamin B6-dependent), OMIM:617290)

Official abbreviation EPVB6D
Name Early Onset Epilepsy, Vitamin B6-dependent
OMIM ID 617290
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene PLPBP
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Individuals

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00000621 Hiroshi Shiraku et al.(2018) M Malaysia - - - - EPVB6D Seizure onset: <24h, Seizure type: GTC, myoclonic, Delay of motor development: right hemiparalysis and dystonic posture, Delay of speech development, profound Intellectual disability, Brain MRI: Broad gyri and shallow sulci, microcephaly with underdevelopment of white matter; periventricular cyst PLPBP PLPBP 1 1 Nur Aisyah Athirah
00000622 Hiroshi Shiraku et al.(2018) M Malaysia - - - - EPVB6D Seizure onset: 34 days, Seizure type: GTC, myoclonic, Delay of motor development, Delay of speech development, severe to profound Intellectual disability, Brain MRI: Broad gyri and shallow sulci, microcephaly with underdevelopment of white matter PLPBP PLPBP 1 1 Nur Aisyah Athirah
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