Global Variome shared LOVD

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Phenotype #0000094091 Individual ID 00119098 Associated disease LGMDR18;LGMD2S Phenotype details early onset limb girdle muscular dystrophy (HP:0006785); walk-22m, muscular pseudohypertrophy (HP:0003707), proximal weakness (HP:0003701), bilateral cataracts (HP:0000519), normal cognition (no ntellectual disability, HP:0001249) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 05y (5 years) Age/Diagnosis 03y Age/Onset 01y Phenotype/Onset - Protein - Owner name Nadine McCrea Database submission license No license selected Created by Nadine McCrea Date created 2017-09-07 14:06:51 +02:00 (CEST) Date last edited 2017-09-08 11:19:49 +02:00 (CEST)

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