Global Variome shared LOVD

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

Phenotype #0000223118 Individual ID 00295553 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Global developmental delay (HP:0001263); Gowers sign (HP:0003391); Hyperhidrosis (HP:0000975); Muscular hypotonia (HP:0001252); Short stature (HP:0004322); Behavioral abnormality (HP:0000708); Exercise-induced muscle fatigue (HP:0009020) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2020-03-18 10:47:50 +01:00 (CET) Date last edited 2020-04-02 12:33:15 +02:00 (CEST)

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