Global Variome shared LOVD

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Phenotype #0000258186 Individual ID 00362816 Associated disease WARBM Diagnosis/Initial Warburg Micro syndrome Diagnosis/Definite WARBM3 Phenotype details 5y-deceased; postnatal growth retardation; postnatal microcephaly; profound developmental delay/mental retardation, 8w-smiled,, 1y-sitting with support, never pulled to stand or crawled; severe axial hypotonia; not walking; 2y-significant lower limb spasticity; no speech; 9m-generalised tonic clonic seizures; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; micropenis,cryptorchidism Inheritance Familial, autosomal recessive Age/Examination 4y (4 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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