Global Variome shared LOVD

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Phenotype #0000224128 Individual ID 00296727 Associated disease CAGSSS Phenotype details bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), no endocrine disturbances, no hypoglycemic episodes, no hearing loss, no congenital type II esophageal achalasia, short stature, no hip dislocation, no scoliosis, spondylo-epimeta-physeal dysplasia, disproportional shortening first metacarpal, no Leigh syndrome, no West syndrome, no neurodevelopment delay, no intellectual disability, no peripheral neuropathy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 27y (27 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 11:17:12 +02:00 (CEST) Date last edited N/A

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