Global Variome shared LOVD

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Phenotype #0000323880 Individual ID 00433359 Associated disease microcephaly Diagnosis/Initial primary microcephaly Diagnosis/Definite - Phenotype details primary microcephaly, hyperkinesia; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter Inheritance Familial, autosomal recessive Age/Examination 13y (13 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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