Phenotype #0000159199

Individual ID 00210634
Associated disease CGL
Diagnosis/Initial congenital lipodystrophy, muscular dystrophy
Diagnosis/Definite CGL-4
Phenotype details generalized lipodystrophy, no anathosis nigricans, hepatosplenomegaly, accelerated bone age, acromegaloid features, no androgynism, generalized muscle weakness, muscle mounding, muscle hypertrophy, atrial fibrillation, scoliosis, contractures ankles, umbilical prominence, renal stones; CPK 554-1545; no intellectual disability
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2009-11-07 16:58:46 +01:00 (CET)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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