Global Variome shared LOVD

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

Phenotype #0000355093 Individual ID 00469948 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details no infantile hypotonia; normal breathing; 8m-sit; 18m-walk; no speech delay; no persistent congenital ocular-motor apraxia; mild ataxia; no macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no Vermian split; no displaced fastigium Inheritance Familial Age/Examination 40y-45y 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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