Phenotype #0000325275

Individual ID 00435032
Associated disease CMYO3;RSMD1
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Muscular dystrophy, Scoliosis, Scapulohumeral muscular dystrophy, Craniofacial dystonia, 3 of 7 siblings affected
Inheritance Familial, autosomal recessive
Age/Examination 24y (24 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2023-04-20 17:40:18 +02:00 (CEST)
Date last edited 2023-05-24 10:25:34 +02:00 (CEST)

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.