Global Variome shared LOVD

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Phenotype #0000258191 Individual ID 00362821 Associated disease WARBM Diagnosis/Initial Warburg Micro syndrome Diagnosis/Definite WARBM3 Phenotype details postnatal growth retardation; postnatal microcephaly; severe developmental delay/mental retardation, 6w-smiled, 5m-rolled to one side, 10m-sitting with support; severe axial hypotonia; not walking; increased lower limb tone with brisk lower limb reflexes and crossed adductor reflex; 9m-speech babbling, no words; no seizures; MRI brain normal; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; ERG normal; slight response to bright light (has not had cataract removal); no hypogonadism 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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