Global Variome shared LOVD

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Phenotype #0000128887 Individual ID 00163757 Associated disease CAGSSS Phenotype details see paper; ..., 1m-bilateral nystagmus (HP:0000639), 17m-cataract (HP:0000518), 5y-progressive corneal opacification (HP:0007759), adrenal insufficiency, growth hormone deficiency, hypoglycemic episodes, 2y-bilateral sensorineural stable hearing, 32y-type II esophageal achalasia, disproportionate short stature, 2y-hip dislocation, mild scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, mild neurodevelopment delay, no intellectual disability, 9y6m-peripheral neuropathy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite CAGSSS Age/Examination 08y (8 years) 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 2018-04-09 20:45:03 +02:00 (CEST) Date last edited 2020-04-11 11:31:19 +02:00 (CEST)

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