Phenotype #0000331977

Individual ID 00442630
Associated disease NMD
Diagnosis/Initial Club feet and hypotonia
Diagnosis/Definite -
Phenotype details deceased; generalised weakness, little spontaneous movement, club feet, reduced respiratory function, white matter brain abnormalities; muscle biopsy: neurogenic abnormalities
Inheritance Isolated (sporadic)
Age/Examination 23y (23 years)
Age/Diagnosis -
Age/Onset <0d
Phenotype/Onset -
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 2023-11-23 18:48:51 +01:00 (CET)
Date last edited N/A

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.