All individuals with variants in gene PLPBP

2 entries on 1 page. Showing entries 1 - 2.
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AscendingIndividual ID     

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Microattribution     

Disease     

Phenotype details     

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Owner     
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 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 1 1 Nur Aisyah Athirah
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