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Table 2 Analysed cases for LipoDDX® validation

From: LipoDDx: a mobile application for identification of rare lipodystrophy syndromes

Case

Diagnosis

Reference

#1

Type 2 Familial Partial Lipodystrophy

Own case

#2

Acquired Generalized Lipodystrophy

Own case

#3

Acquired Partial Lipodystrophy

Own case

#4

Type 6 Familial Partial Lipodystrophy

Ref.# [6]

#5

Keppen-Lubinsky syndrome

Ref.# [10]

#6

Type 3 Familial Partial Lipodystrophy

Ref.# [11]

#7

Lipodystrophy associated with hematopoietic stem cell transplant

Own case

#8

Progressive Encephalopathy with/without lipodystrophy

Own case

#9

Type 2 congenital generalized lipodystrophy

Own case

#10

Type 1 congenital generalized lipodystrophy

Own case

#11

Marfan syndrome with neonatal progeroid –like lipodystrophy

Ref.# [12]

#12

Type 6 Familial Partial Lipodystrophy

Ref.# [6]

#13

PRAAS1

Ref.# [13]

#14

SHORT syndrome

Own case

#15

MDPL syndrome

Ref.# [14]

#16

Thyrotoxicosis

Own case

#17

Werner syndrome

Own case

#18

Keppen-Lubinsky syndrome

Ref.# [10]

#19

Type 3 Familial Partial Lipodystrophy

Ref.# [15]

#20

Type 4 Familial Partial Lipodystrophy

Ref.# [16]

#22

Anorexia nervosa

Ref.# [17]

#23

Localized lipodystrophy

Own case

#24

Cockayne syndrome

Ref.# [18]

#25

Type 5 Familial Partial Lipodystrophy

Ref.# [19]

#26

Acquired Generalized Lipodystrophy

Own case

#27

Type 2 Familial Partial Lipodystrophy

Own case

#28

MFN2 associated FPLD

Ref.# [7]

#29

Type 4 congenital generalized lipodystrophy

Ref.# [20]

#30

Néstor-Guillermo progeria syndrome

Ref.# [21]

#31

Acquired Partial Lipodystrophy

Own case

#32

Atypical progeroid syndrome

Own case

#33

Mental disorder

Own case

#34

Hutchinson-Gilford progeria syndrome

Own case

#35

Type 1 congenital generalized lipodystrophy

Own case

#36

ADRA2A associated FPLD

Ref.# [5]

#37

Fontaine progeroid syndrome

Ref.# [22]

#38

Type A mandibuloacral dysplasia

Ref.# [23]

#39

Wiedemann Rautenstrauch syndrome

Ref.# [24]

#40

Type 1 Familial Partial Lipodystrophy

Own case