Global Variome shared LOVD

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Phenotype #0000323871 Individual ID 00433350 Associated disease microcephaly Diagnosis/Initial primary microcephaly Diagnosis/Definite - Phenotype details primary microcephaly, café au lait spots; birth OFC (SD-2), weigth (SD-2), length (SD-1); OFC (SD-5.5), weigth (SD-1), length (SD-1.5); no epilepsy; moderate intellectual disability; MRI extreme microcephaly; birth OFC (SD-2), weigth (SD-2), length (SD-1); OFC (SD-5.5), weigth (SD-1), length (SD-1.5); no epilepsy; moderate intellectual disability; MRI extreme microcephaly Inheritance Familial, autosomal recessive Age/Examination 12y (12 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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