Global Variome shared LOVD

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

Phenotype #0000014802 Individual ID 00011647 Associated disease HYDRO Phenotype details peripheral neuropathy (demyelinating motor sensory neuropathy ), dysmorphic facial features , hypospadias, craniosynostosis, minor insufficiency of the aortic valve, mild glaucoma, mild learning disabilities Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Thomas Potjer Database submission license No license selected Created by Thomas Potjer Date created 2014-02-27 17:41:25 +01:00 (CET) Date last edited 2014-02-28 13:46:43 +01:00 (CET)

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