Global Variome shared LOVD

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

Phenotype #0000355118 Individual ID 00469973 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details no infantile hypotonia; normal breathing; 7m-sit; 12m-walk; no speech delay; no persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; no intellectual disability Inheritance Familial Age/Examination 35y-40y Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Valentina Serpieri Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-08-22 15:57:28 +02:00 (CEST) Date last edited N/A

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