Global Variome shared LOVD

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Phenotype #0000258195 Individual ID 00362825 Associated disease WARBM Diagnosis/Initial Warburg Micro syndrome Diagnosis/Definite WARBM3 Phenotype details 10y-deceased; postnatal growth retardation; postnatal microcephaly; profound developmental delay; severe axial hypotonia; not walking; 6y-severe spastic quadriplegia with contractures; no speech; generalised tonic clonic; MRI brain abnormal anterior gyration, posterior corpus callosum hypoplasia, cerebellar hypoplasia; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; no hypogonadism Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-23 16:48:55 +02:00 (CEST) Date last edited N/A

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