Symptoms and Testing information for RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test

Symptoms and Testing information for RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test

Warburg Micro Syndrome is a rare genetic disorder that significantly impacts the development and function of various parts of the body. This condition is characterized by a wide range of symptoms, primarily affecting the eyes, brain, and reproductive organs. One of the genes associated with this syndrome is RAB3GAP1, and mutations in this gene lead […]

Symptoms and Testing information for TSC1 Gene Tuberous Sclerosis Genetic Test

Symptoms and Testing information for TSC1 Gene Tuberous Sclerosis Genetic Test

Symptoms of TSC1 Gene Tuberous Sclerosis Genetic Test Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects multiple systems of the body, leading to the growth of benign tumors in organs such as the brain, kidneys, heart, lungs, and skin. It is caused by mutations in either the TSC1 or TSC2 genes. The TSC1 […]

Symptoms and Testing information for COL6A1 Gene Ullrich Congenital Muscular Dystrophy Genetic Test

Symptoms and Testing information for COL6A1 Gene Ullrich Congenital Muscular Dystrophy Genetic Test

Ullrich Congenital Muscular Dystrophy (UCMD) is a severe form of muscular dystrophy characterized by muscle weakness, joint stiffness, and developmental challenges. This condition is primarily caused by mutations in the COL6A1 gene, among others, which play a crucial role in maintaining the structural integrity of muscle and connective tissues. Understanding the symptoms and undergoing genetic […]

Symptoms and Testing information for COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Genetic Test

Symptoms and Testing information for COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Genetic Test

Symptoms of COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Ullrich Congenital Muscular Dystrophy Type 2, a rare genetic disorder, is caused by mutations in the COL12A1 gene. This condition is characterized by muscle weakness, joint flexibility issues, and developmental delays in motor skills. Recognizing the symptoms early can significantly impact the management and quality […]

Symptoms and Testing information for CSTB Gene Unverricht-Lundborg Disease Genetic Test

Symptoms and Testing information for CSTB Gene Unverricht-Lundborg Disease Genetic Test

Unverricht-Lundborg disease, also known as Baltic myoclonus or progressive myoclonic epilepsy, is a rare inherited disorder that affects the nervous system. It typically begins in childhood or adolescence and is characterized by episodes of involuntary muscle jerking or twitching (myoclonus), seizures, and, in some cases, a decline in cognitive abilities. The disease is caused by […]

Symptoms and Testing information for UROC1 Gene Urocanase Deficiency Genetic Test

Symptoms and Testing information for UROC1 Gene Urocanase Deficiency Genetic Test

Symptoms of UROC1 Gene Urocanase Deficiency Genetic Test The UROC1 gene plays a critical role in the breakdown process of histidine, an essential amino acid necessary for growth and tissue repair. A deficiency in the UROC1 gene, known as Urocanase Deficiency, can lead to a range of health issues due to the accumulation of urocanic […]

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