Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000323875 Individual ID 00433354 Associated disease microcephaly Diagnosis/Initial primary microcephaly Diagnosis/Definite - Phenotype details primary microcephaly; birth OFC (SD-3), weigth median, length (SD-1); OFC (SD-5.5), weigth (SD+0.5), length (SD-1); no epilepsy; severe intellectual disability; MRI enlarged ventricles, delayed myelinization; birth OFC (SD-3), weigth median, length (SD-1); OFC (SD-5.5), weigth (SD+0.5), length (SD-1); no epilepsy; severe intellectual disability; MRI enlarged ventricles, delayed myelinization 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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