Global Variome shared LOVD

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Phenotype #0000302695 Individual ID 00410561 Associated disease lipodystrophy Diagnosis/Initial lipodystrophy Diagnosis/Definite - Phenotype details see paper; ..., lipoatrophy limbs; no cervico-facial lipohypertrophy; muscle hypertrophy; diabetes mellitus type 3; no acanthosis nigricans; hirsutism; polycystic ovary syndrome; no precocious puberty; dyslipidemia; hepatomegaly/hepatic steatosis; no hypothyroidism/goiter; hypertension; peripheral demyelinating neuropathy; no Intellectual disability; chronic muscle/joint pain Inheritance Familial, autosomal recessive Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-05-29 15:28:38 +02:00 (CEST) Date last edited N/A

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