Global Variome shared LOVD

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Phenotype #0000308354 Individual ID 00416844 Associated disease WARBM Diagnosis/Initial - Diagnosis/Definite Warburg Micro syndrome 1 [MIM 600118] Phenotype details brain magnetic resonance imaging: thin corpus callosum, mild enlarged ventricles, hypoplasia of vermis and cerebellum; additional clinical featuresbilateral congenital cataracts, microphthalmia, pale optic discs, hypogenitalism, axial hypotonia, hip dislocation, joint contractures, severe intellectual disability Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-08 10:25:47 +02:00 (CEST) Date last edited N/A

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