Phenotype #0000124810

Individual ID 00152467
Associated disease LGMD
Phenotype details no contractures, hypertrophy, spine unaffected, echo right bundle branch block; no microcephaly, no eye involvement; CPK 1900; intellectual disability (HP:0001249); able to walk
Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD)
Inheritance Unknown
Diagnosis/Definite LGMD2N
Age/Examination -
Age/Diagnosis -
Age/Onset 1y6m
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 2008-01-27 22:24:07 +01:00 (CET)
Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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