congenital generalized lipodystrophy type 4 (Q32147713)
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A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of PTRF on chromosome 17q21.2.
- generalized congenital lipodystrophy with myopathy
- Brunzell syndrome AGPAT2-related
- BSCL4
- GCL4
- CGL4
- generalized congenital lipodystrophy type 4
- Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
- Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy
- LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4
- Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy
- LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
Language | Label | Description | Also known as |
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English | congenital generalized lipodystrophy type 4 |
A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of PTRF on chromosome 17q21.2. |
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