Global Variome shared LOVD

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Phenotype #0000224129 Individual ID 00296728 Associated disease CAGSSS Phenotype details see paper; ..., 5m-bilateral nystagmus (HP:0000639), 5m-cataract (HP:0000518), 5y-corneal opacification (HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, 21m-moderate bilateral sensorineural hearing loss, no type II esophageal achalasia, short stature, congenital hip dislocation, scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, early childhood peripheral neuropathy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite CAGSSS Age/Examination 06y (6 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 2020-04-11 11:41:10 +02:00 (CEST) Date last edited 2020-04-11 11:44:02 +02:00 (CEST)

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