Global Variome shared LOVD

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

Phenotype #0000207170 Individual ID 00269338 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Muscle weakness (HP:0001324); Global developmental delay (HP:0001263); Seizures (HP:0001250); Respiratory insufficiency due to muscle weakness (HP:0002747); Optic atrophy (HP:0000648) 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 2019-11-20 18:18:16 +01:00 (CET) Date last edited 2020-04-02 12:33:15 +02:00 (CEST)

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