Global Variome shared LOVD

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

Phenotype #0000174814 Individual ID 00234403 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Psychomotor retardation (HP:0025356); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Dysarthria (HP:0001260); Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Areflexia (HP:0001284); Demyelinating peripheral neuropathy (HP:0007108) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name IMGAG Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by IMGAG Date created 2019-05-16 12:06:26 +02:00 (CEST) Date last edited 2020-04-01 13:57:49 +02:00 (CEST)

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