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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