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congenital generalized lipodystrophy type 4 (BSCL4) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Lipodystrophy, Centrally nucleated skeletal muscle fibers, and Muscle mounding and others; and common findings: Hepatic steatosis, Muscle stiffness, Flexion contracture, and Enlarged liver (hepatomegaly) and others. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	11	Muscle stiffness, Flexion contracture, Proximal muscle weakness
Digestive system	7	Hepatic steatosis, Enlarged liver (hepatomegaly), Constipation
Bones and joints	7	Weak and brittle bones (osteoporosis), Mild bone density loss (osteopenia), Excessive inward curvature of the lower spine (hyperlordosis)
Heart and blood vessels	3	Atrial fibrillation, Tachycardia, Bradycardia
Brain and nerves	3	Spinal rigidity, Exercise intolerance, Difficulty swallowing (dysphagia)
Lab test results	2	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating hepatic transaminase concentration
Blood and immune system	2	Recurrent infections, Enlarged spleen (splenomegaly)
Growth and development	1	Failure to thrive
Hormones	1	Insulin resistance
Lungs and breathing	1	Recurrent pneumonia

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congenital generalized lipodystrophy type 4

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congenital generalized lipodystrophy type 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team