Phenotype #0000155278

Individual ID 00207501
Associated disease EEOC
Phenotype details Paroxymal opisthotonus, DD, early-onset intractable epilepsy, generalized tonic-clonic seizures, Status epilepticus, myoclonic seizures, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. Refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 m. Mild dysmorphism (wide-set eyes, depressed nasal bridge, short anteverted nose.) Normal ALP level. Normal brain MRI. No microcephaly, bone deformity or joint contracture.
Diagnosis/Initial -
Inheritance Familial, X-linked
Diagnosis/Definite Early onset epileptic encephalopathies (EOEE)
Age/Examination -
Age/Diagnosis -
Age/Onset 00y10m
Phenotype/Onset -
Protein -
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2018-11-23 16:54:09 +01:00 (CET)
Date last edited N/A

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