Global Variome shared LOVD

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

Phenotype #0000311149 Individual ID 00419868 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details expired due to hypoventilation and neurogenic respiratory failure; MRI brain normal lateral and third ventricles, elongated fourth ventricle, cerebellum markedly hypoplastic with extremely rudimentary vermis, small posterior fossa filled with fluid, corpus callosum thin without any midline shift, myelination delayed for age, cavum septum pellucidum more prominen, no heterotopic cells noted in any area, some simplification gyral pattern, particularly in frontal cortex, brain stem extremely thin Inheritance Isolated (sporadic) 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 2022-10-23 22:04:51 +02:00 (CEST) Date last edited N/A

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