Global Variome shared LOVD

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Phenotype #0000224133 Individual ID 00296732 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., no bilateral nystagmus (-HP:0000639), no cataract (-HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, spinal abnormalities, no spondylo-epimeta-physeal dysplasia, Leigh syndrome, West syndrome, neurodevelopment delay, no peripheral neuropathy Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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 12:26:20 +02:00 (CEST) Date last edited N/A

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