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 InternationalCreative Commons License
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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