Global Variome shared LOVD

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Phenotype #0000155291 Individual ID 00207513 Associated disease EEOC Phenotype details Paroxymal opisthotonus, DD, early-onset intractable epilepsy, generalized tonic-clonic seizures, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. Refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 months. Normal ALP levels. Mild dysmorphism with wide-set eyes, depressed nasal bridge, and short anteverted nose. No status epilepticus, myoclonic seizures. No microcephaly, bone deformity or joint contracture. Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite EOEE Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2018-11-23 17:42:23 +01:00 (CET) Date last edited N/A

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