Global Variome shared LOVD

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

Phenotype #0000323876 Individual ID 00433355 Associated disease microcephaly Diagnosis/Initial primary microcephaly Diagnosis/Definite - Phenotype details primary microcephaly; birth OFC (SD-2.5), weigth (SD-1), length (SD-3); OFC (SD-9), weigth (SD-2.5), length (SD-4.5); no epilepsy; IQ<42 (Terman‐Merill); MRI simplified pattern; birth OFC (SD-2.5), weigth (SD-1), length (SD-3); OFC (SD-9), weigth (SD-2.5), length (SD-4.5); no epilepsy; IQ<42 (Terman‐Merill); MRI simplified pattern Inheritance Familial, autosomal recessive Age/Examination 15y (15 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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