Global Variome shared LOVD

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Phenotype #0000346431 Individual ID 00457981 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite XLID114 Inheritance Familial, X-linked Phenotype details see paper; ..., died several weeks after birth; no dysmorphic features; congenital inner ear anomalies; no vision impairment; MRI brain absent bilateral mid and posterior cerebral hemispheres, cerebellar hypoplasia, enlarged cisterna magna, dilated left lateral ventricle related to obstructive hydrocephalus, polymicrogyria Age/Examination <1m 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 2024-11-23 20:27:43 +01:00 (CET) Date last edited N/A

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