Global Variome shared LOVD

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Phenotype #0000323866 Individual ID 00433345 Associated disease microcephaly Diagnosis/Initial primary microcephaly Diagnosis/Definite - Phenotype details primary microcephaly, short stature; birth OFC (SD-2.5), weigth median, length (SD-0.5); OFC (SD-7), weigth (SD1), length (SD-0.5); no epilepsy; severe intellectual disability (speaks several words, cognitive developmental index 18m at age 3y10m McCarthy developmental scale); MRI normal; birth OFC (SD-2.5), weigth median, length (SD-0.5); OFC (SD-7), weigth (SD1), length (SD-0.5); no epilepsy; severe intellectual disability (speaks several words, cognitive developmental index 18m at age 3y10m McCarthy developmental scale); MRI normal 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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