Global Variome shared LOVD

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Phenotype #0000123849 Individual ID 00151479 Associated disease LGMD Phenotype details hypotonia, no contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, eyes unaffected, no microcepahly, MRI brain normal (frontal small subarachnoid cyst); prednisone treatment positive; no microcephaly, no eye involvement; CPK level 13000; no intellectual disability (-HP:0001249); able to walk Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite LGMD2M Age/Examination - Age/Diagnosis - Age/Onset 4m Phenotype/Onset - Protein IHC absent glycosylated DAG1 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-01-27 16:39:30 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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