Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000128886 Individual ID 00163754 Associated disease CAGSSS Phenotype details bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), central adrenal insufficiency, growth hormone deficiency, no hypoglycemic episodes, congenital type II esophageal achalasia, short stature, no hip dislocation, mild scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, chronic sensorimotor distal axonal polyneuropathy; 13y-moderate bilateral sensorineural hearing loss Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite CAGSSS with additional type II esophageal achalasia and adrenal insufficiency Age/Examination 20y08m (20 years, 8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Barbara Vona Database submission license Creative Commons Attribution 4.0 International Created by Barbara Vona Date created 2018-04-09 08:00:12 +02:00 (CEST) Date last edited 2020-04-11 11:12:44 +02:00 (CEST)

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