Phenotype #0000042955

Individual ID 00056342
Associated disease CNM1
Phenotype details early onset; neonatal hypotonia, hypoxia; 12y-stable or slowly progressive disease, general hypotonia, diffuse weakness (predominantly proximal portions limbs) ophthalmoparesis
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-05-30 22:33:42 +02:00 (CEST)
Date last edited 2012-03-09 19:08:25 +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.