Phenotype #0000330572

Individual ID 00441132
Associated disease NEBDM
Diagnosis/Initial Distal myopathy
Diagnosis/Definite NEBDM
Phenotype details foot dorsiflexor weakness (HP:0009027); weak grip (HP:0033466); muscle fiber atrophy (HP:0100295); distal muscle weakness (HP:0002460); hypotonia (HP:0001252); progressive muscle weakness (HP:0003323); reduced tendon reflexes (HP:0001315); ptosis (HP:0000508)
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Lydia Sagath
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Lydia Sagath
Date created 2023-11-06 15:59:43 +01:00 (CET)
Date last edited 2023-11-16 14:44:36 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.