Global Variome shared LOVD

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Phenotype #0000323890 Individual ID 00433369 Associated disease microcephaly Diagnosis/Initial primary microcephaly Diagnosis/Definite - Phenotype details primary microcephaly; birth OFC (SD-2.5), weigth median, length (SDNA); OFC (SD-8), weigth (SD-2), length (SD-1.5); no epilepsy; severe intellectual disability (4y-first words, 6y-DQ60); MRI simplified pattern, pachygyria, lissencephaly; birth OFC (SD-2.5), weigth median, length (SDNA); OFC (SD-8), weigth (SD-2), length (SD-1.5); no epilepsy; severe intellectual disability (4y-first words, 6y-DQ60); MRI simplified pattern, pachygyria, lissencephaly Inheritance Familial, autosomal recessive Age/Examination 9y (9 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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