Global Variome shared LOVD

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

Phenotype #0000233330 Individual ID 00307557 Associated disease ? Diagnosis/Initial Escobar variant multiple pterygium syndrome (EVMPS) Diagnosis/Definite CPSKF1B Phenotype details - Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Anna Hakonen Database submission license No license selected Created by Anna Hakonen Date created 2020-08-22 15:18:52 +02:00 (CEST) Date last edited 2020-08-24 09:58:27 +02:00 (CEST)

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