Global Variome shared LOVD

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Phenotype #0000323887 Individual ID 00433366 Associated disease microcephaly Diagnosis/Initial primary microcephaly Diagnosis/Definite - Phenotype details primary microcephaly; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal 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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