Global Variome shared LOVD

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Phenotype #0000323860 Individual ID 00433339 Associated disease microcephaly Diagnosis/Initial primary microcephaly Diagnosis/Definite - Phenotype details primary microcephaly; birth OFC (SD-2), weigth (SDNA), length (SD2); OFC (SD-3.5), weigth (SD+1.5), length (SD-1); 14y-combined generalized and focal (first tonic‐clonic seizures, later non‐motor focal and atonic seizures), refractory ‐ daily seizures and nearly all drugs tried; moderate intellectual disability (IQ around 50); MRI normal; birth OFC (SD-2), weigth (SDNA), length (SD2); OFC (SD-3.5), weigth (SD+1.5), length (SD-1); 14y-combined generalized and focal (first tonic‐clonic seizures, later non‐motor focal and atonic seizures), refractory ‐ daily seizures and nearly all drugs tried; moderate intellectual disability (IQ around 50); MRI normal Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-03-06 14:23:39 +01:00 (CET) Date last edited N/A

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