Global Variome shared LOVD

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Phenotype #0000224131 Individual ID 00296730 Associated disease CAGSSS Phenotype details see paper; ..., bilateral nystagmus (HP:0000639), 3y-cataract (HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, 8y-bilateral sensorineural hearing loss, no type II esophageal achalasia, disproportionate short stature (-6SD), congenital hip dislocation, abnormal vertebral bodies, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, peripheral neuropathy, early childhood pain insensitivity 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 2020-04-11 12:00:39 +02:00 (CEST) Date last edited N/A

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