Phenotype #0000302698

Individual ID 00410606
Associated disease lipodystrophy
Diagnosis/Initial lipodystrophy
Diagnosis/Definite -
Phenotype details see paper; ..., lipoatrophy limbs; cervico-facial lipohypertrophy; muscle hypertrophy; diabetes mellitus type 6; acanthosis nigricans; hirsutism; polycystic ovary syndrome; no precocious puberty; dyslipidemia; hepatomegaly/hepatic steatosis; hypothyroidism/goiter; glomerulopathy; hypertension; peripheral demyelinating neuropathy; no Intellectual disability; chronic muscle/joint pain
Inheritance Familial, autosomal recessive
Age/Examination 42y (42 years)
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 2022-05-29 15:42:39 +02:00 (CEST)
Date last edited N/A

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