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Table 2 Clinical Features of Patients With CGL type 4 as a Result of Different CAVIN1 Mutations (Patient 1 – described patient, patients 2–28 – previously described patients [5,6,7,8,9,10,11,12,13,14])

From: Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant

Clinical features/Patients12345678 (s.9)9 (s.8)1011 (s.12)12 (s.11)131415161718 (s.19, 20)19 (s.18, 20)20 (s.18, 19)212223 (s.24, 25)24 (s.23, 25)25 (s.23, 24)2627 (s. 26)28
Country of originRUKJJJJJMMTMMTJJOOOOOOOOOOSASAU
Age at report, y3613814102724111,4111271333 y. 11 m.1421511311 m1141046315
Age of onset of lipodistrophy, y36NANANANANANANANANANANANA2.5NA14NANANANANANANANANANANANA
SexFFFFMMMMFFFMFFMMNANANANANANANANANAMMM
Generalized lipodistrophyYYYYYYYYYYYYYYYYYYYYYYYYYYYY
Skeletal muscle hypertrophyYYYNANAYYYYYYYYNYYNANANANANAYYYYYYN
Muscle weaknessYYYNANAYYYNNAYYNANYYNAYYYNANAYYYNNY
Muscle painYYNAYNANANANNNAYNANANNYNANANANANANANANANANNN
Acanthosis nigricansNNNNNNNYNNYNANNNANNANANANANANNNNNNY
Rigid spine or scoliosisYYYNNYYNNAYNANAYNNYNANANANANANYNANANNN
Hypertrophic pyloric stenosisNNNANANANANAYYNANANANANANYYYYYNYYYYNNN
Acromegaloid featuresYYNNANAYYNANNAYNAYNANAYNANANANANANNANANAYNN
Joint contracturesNYYNNYNAYNNANANANANNAYNANANANANAYYYYYNY
Atlantoaxial instabilityNAYNANANANANAYNANAYYYNANANANANANANANANANANANANNY
ArrhythmiaNYYNNYNNANNANNANNNYNANANANANANANANANANNN
TachycardiaYYNNNNNNANNANNAYNNYNANANANANANANANANANNY
Long-QT syndromeNYNNNNNNANNANNANNNYNANANANANANANANANANNN
Diabetes mellitusYNNNNNNNNNNNNNNNNANANANANANANANANANNN
NeuropathyYNNANANANANANANANANANANANANYNANANANANANANANANANNN
DysphagiaYYNANANANANAYYNAYYNANANAYNANANANANANANANANANNN
Motor development delayYNNNNNNYYYYYYNYNNANANANANANANANANAYNY
Developmental delayNNNNNNNNYYYYYNNNNANANANANANANANANANNY
Umbilical herniaYNNNNYNYNYYYYYNANNANANANANANANANANANNN
HepatomegalyYYYNNAYNYYYYYNANNNNANANANANANANANANAYYY
SplenomegalyYNYNNAYNNNNAYNANANNAYNANANANANANANANANANNN
Fatty liverYYNYNANNNANNANANANANNNNANANANANANANANANANNN
OsteopeniaNNNANANANANANANANANANANANANAYNANANANANANANANANANNN
OsteoporosisYYNANANANANANANANANANANANANANNANANANANANANANANANNN
DolichosigmoidYNNANANANANANNANANANANANANANNANANANANANANANANANANAN
Frequent infectious diseasesYYNYNNYNANANANAYNANANAYNANANANANANANANANANNN
Vitamin D defficiencyYNANANANANANANANANANANANANANANANANANANANANANANANANANAN
HypocalcemiaYNANANANANANANANANANNNANANANANANANANANANANANANANANANA
HyperuricemiaYNANANANANANANANANANNNANANANANANANANANANANANANANANANA
Bilateral cataractYNANANANANANANNANANANANANANANANANANANANANANANANANNN
MacroglossiaNNNNNNNNNNNNYNYYNANANANANANANANANNNN
Cutis marmorataNNNNNNNNNANANANANANANAYNANANANANANANANANNNN
ConstipationYNYNNNYNNANANANANANANANNANANANANANANANANNNN
Hearing lossNNNNNNNYNNNNNNNNNANANANANANANANANNNN
  1. R Russia, J Japan, M Mexico, T Turkey, O Oman, SA Saudi Arabia, U USA, S Sibling, NA Information not available, F Female, M Male, Y Yes, N No.