Global Variome shared LOVD

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Phenotype #0000094728 Individual ID 00122371 Associated disease DMD Phenotype details all mild myopathy with clear Becker-type course, glycerol kinase deficiency, adrenal hypoplasia; all bilateral undescended testes (surgically corrected); eldest 12y-developed epilepsy (treated successfully for 2y, seizures recently recurred; two younger boys short stature (heights below 3rd-centile, eldest in 10th-centile)all mild mental retardation, younger boys IQ 66–84 (mean 74) and IQ 64–82 (mean 72), eldest expected to perform similarly Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD) Inheritance Familial, X-linked Diagnosis/Definite BMD;GKD;AHC Age/Examination 17y (17 years) Age/Onset - Phenotype/Onset - Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2002-07-01 12:00:00 +02:00 (CEST) Date last edited 2017-11-30 16:08:39 +01:00 (CET)

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