Global Variome shared LOVD

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Phenotype #0000170780 Individual ID 00225674 Associated disease ? Diagnosis/Initial neurogenetic disorder Diagnosis/Definite - Phenotype details see paper; …, neonatal death due to severe brain malformation (hydranencephaly and severe cerebellar hypoplasia) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-02-22 18:37:24 +01:00 (CET) Date last edited N/A

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