Phenotype #0000347499

Individual ID 00459423
Associated disease MYOP
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details rapidly progressive congenital myopathy characterized by severe hypotonia and axial muscle weakness
Inheritance Familial, autosomal recessive
Age/Examination 7
Age/Diagnosis 8
Age/Onset 00y
Phenotype/Onset delay of psychomotor development
Protein -
Owner name Barbora Lauerova
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Barbora Lauerova
Date created 2024-12-27 18:58:45 +01:00 (CET)
Date last edited 2024-12-31 09:16:49 +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.