Global Variome shared LOVD

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

Phenotype #0000221099 Individual ID 00287364 Associated disease neuropathy, optic Phenotype details Mitral valve prolapse (HP:0001634); Abnormal macular morphology (HP:0001103); Renal cortical microcysts (HP:0004734) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Khadidja Guehlouz Database submission license No license selected Created by Khadidja Guehlouz Date created 2020-02-14 11:51:02 +01:00 (CET) Date last edited 2020-08-25 21:27:59 +02:00 (CEST)

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