Global Variome shared LOVD

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

Phenotype #0000352223 Individual ID 00466859 Associated disease CS Diagnosis/Initial Cockayne syndrome Diagnosis/Definite CSA (OMIM# 216400) Phenotype details - Inheritance Familial, autosomal recessive Age/Examination 06y (6 years) Age/Diagnosis 07y Age/Onset 00y06m Phenotype/Onset - Owner name Arisha Rasheed Database submission license No license selected Created by Arisha Rasheed Date created 2025-09-24 21:33:37 +02:00 (CEST) Date last edited 2025-09-26 11:32:12 +02:00 (CEST)

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