Global Variome shared LOVD

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Phenotype #0000302367 Individual ID 00410262 Associated disease ? Diagnosis/Initial postnatal diagnosis of hydrocephalus Diagnosis/Definite - Phenotype details creatine kinase units/l (normal values in the range of 24-240): 495; biopsy: not done Inheritance Familial, autosomal recessive Age/Examination 11m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-23 11:57:25 +02:00 (CEST) Date last edited N/A

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