Phenotype #0000172999

Individual ID 00229793
Associated disease EIEE
Phenotype details 5y-walks few steps; no speech; comprehension severely limited; no regression; severe DD or ID; 4m-onset seizures (complex partial, generalized tonic clonic); no MRI anomalies; truncal hypotonia; hypertonia limbs; paroxysmal, dystonic-athetoid attacks; no stereotypies; behavioral anomalies; dolichocephaly, wide-spaced teeth; hyperreflexia, mild oculomotor apraxia, insomnia, constipation
Diagnosis/Initial early infantil epileptic encephalopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite EIEE-64
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Intellectual_dis -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-04-10 22:37:14 +02:00 (CEST)
Date last edited N/A

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