Global Variome shared LOVD

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

Phenotype #0000257159 Individual ID 00361766 Associated disease CIPA Phenotype details Developmental delay, increased serum creatine phosphokinase, family history of elder sibling with pain insensitivity Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Anju Shukla Database submission license No license selected Created by Anju Shukla Date created 2021-04-10 06:08:24 +02:00 (CEST) Date last edited 2021-04-12 14:11:47 +02:00 (CEST)

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