Disease #05755 (lipodystrophy (lipodystrophy))

Official abbreviation lipodystrophy
Name lipodystrophy
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Individuals reported having this disease 1
Phenotype entries for this disease 1
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00301765 FGL100.4/5 PubMed: Patni 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States - - 0 - - lipodystrophy see paper; ..., early onset intellectual disability; childhood development of near-generalised loss of subcutaneous fat with diabetes mellitus, extreme hypertriglyceridemia, hepatic steatosis, short stature, clinodactyly, joint contractures, leiomyoma of uterus, cataracts; lipodystrophy more pronounced in upper and lower extremities, no associated muscular hypertrophy LMNA ANK1, CD101, GREB1, LMNA, POU2F1 5 2 Johan den Dunnen
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