Global Variome shared LOVD

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

Phenotype #0000061093 Individual ID 00081491 Associated disease CCHS Phenotype details autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - 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 2016-10-16 10:43:07 +02:00 (CEST) Date last edited N/A

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