Phenotype #0000124820

Individual ID 00152477
Associated disease MDC
Phenotype details Cerebellar hypoplasia, mild ventricular enlargement, flat pons; CPK 15x; able to walk
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite -
Inheritance Unknown
Age/Examination -
Age/Diagnosis 17y
Age/Onset -
Phenotype/Onset -
Protein IHC reduced DAG1
Owner name Rosário dos Santos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2008-06-06 17:32:50 +02:00 (CEST)
Date last edited 2013-02-01 19:44:12 +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.