Global Variome shared LOVD

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Phenotype #0000119313 Individual ID 00146577 Associated disease LGMD2 Phenotype details see paper; ..., 7y-deceased; neonatal onset hypotonia, respiratory distress; maximum motor ability never head control/sit; never walked; joint contractures Achilles/hips; recurrent infections; left ventricular hypertrophy; severe myopia; retinal detachment, RPE; intellectual disability; MRI brain pachygyria, lissencephaly; cerebellar vermis hypoplasia, cysts; pons hypoplasia, Dandy Walker; elevated creatine kinase level (3000-4000 U/L); muscle biopsy dystrophic (atrophy/fibrosis) Diagnosis/Initial muscle-eye-brain disease Diagnosis/Definite MDDGA5;LGMD2I Inheritance Familial, autosomal recessive Age/Examination 07y (7 years) Age/Onset - Phenotype/Onset - Age/Diagnosis - Protein - Owner name Marianne Schwartz Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-31 17:40:57 +02:00 (CEST) Date last edited 2026-07-03 19:39:25 +02:00 (CEST)

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