Global Variome shared LOVD

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

Phenotype #0000231249 Individual ID 00305400 Associated disease CCHS Phenotype details Central hypoventilation syndrome, cryptogenic epilepsy, combined developmental delay, chronic epilepsy hypoxaemia (drumstick finger); behavioural abnormalities, resuscitation, tracheotomized and nocturnal home respiration Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2020-06-24 16:41:23 +02:00 (CEST) Date last edited 2020-06-25 13:37:19 +02:00 (CEST)

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