Global Variome shared LOVD

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Phenotype #0000258187 Individual ID 00362817 Associated disease WARBM Diagnosis/Initial Warburg Micro syndrome Diagnosis/Definite WARBM3 Phenotype details postnatal growth retardation; postnatal microcephaly; severe developmental delay/mental retardation, 8w-smiled, 1y-sit with support; severe axial hypotonia; not walking; increased lower limb tone with brisk reflexes, crossed adductors and tight tendon achilles few voluntary lower limb movements, upper limbs normal tone and reflexes; speech babbling, no words; no seizures; MRI brain bilateral frontal polymicrogyria, corpus callosum thin but completely formed, no other structural abnormalities; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; ERG normal; slight response to bright light (has not had cataract removal) Inheritance Familial, autosomal recessive Age/Examination 21m 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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