Global Variome shared LOVD

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

Phenotype #0000326938 Individual ID 00437018 Associated disease NEM2 Phenotype details proximal muscle weakness (HP:0003701); weakness of facial muscles (HP:0030319); reduced tendon reflexes (HP:0001315); delayed motor milestones (HP:0001270); hypotonia (HP:0001252); speech articulation difficulties (HP:0009088); dysarthria (HP:0001260) Diagnosis/Initial 0y Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset 00y Phenotype/Onset - Protein - Owner name Lydia Sagath Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Lydia Sagath Date created 2023-10-11 21:35:08 +02:00 (CEST) Date last edited 2023-10-12 10:36:56 +02:00 (CEST)

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