Global Variome shared LOVD

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Phenotype #0000224130 Individual ID 00296729 Associated disease CAGSSS Phenotype details see paper; ..., 3m-bilateral nystagmus (HP:0000639), 3m-cataract (HP:0000518), 16y5m-corneal opacification (HP:0007759), no adrenal insufficiency, hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, 18m-hip dislocation, scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, 8m-peripheral neuropathy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite CAGSSS Age/Examination 16y06m (16 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-11 11:44:52 +02:00 (CEST) Date last edited N/A

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