The FOXG1 gene plays a crucial role in the development and function of the brain. Mutations in this gene can lead to a congenital variant of Rett syndrome, a complex neurological disorder that predominantly affects females. Understanding the symptoms of this condition is vital for early diagnosis and intervention. At DNA Labs UAE, we offer […]
Dysmorphology Diseases
Symptoms and Testing information for FGFR2 Gene Scaphocephaly Maxillary Retrusion and Mental Retardation Genetic Test
Understanding the complex nature of genetic disorders is pivotal for early diagnosis and effective management. Among these, a condition linked to mutations in the FGFR2 gene is of significant interest to medical researchers and clinicians. This condition is characterized by a unique combination of symptoms, including scaphocephaly, maxillary retrusion, and mental retardation. Recognizing these symptoms […]
Symptoms and Testing information for GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test
— Rhizomelic Chondrodysplasia Punctata (RCDP) Type 2 is a rare genetic disorder that affects multiple systems within the body, including skeletal development, vision, and respiratory function. This condition is caused by mutations in the GNPAT gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive […]
Symptoms and Testing information for MAGEL2 Gene Schaaf-Yang Syndrome Genetic Test
Symptoms of MAGEL2 Gene Schaaf-Yang Syndrome Genetic Test Schaaf-Yang syndrome is a complex genetic disorder that affects many parts of the body and is caused by mutations in the MAGEL2 gene. Recognizing the symptoms early on can significantly impact the management and treatment of the condition. DNA Labs UAE offers a comprehensive genetic test for […]
Symptoms and Testing information for AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 Genetic Test
— Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3) is a rare genetic disorder caused by mutations in the AGPS gene. This condition is characterized by shortening of the bones in the arms and legs, known as rhizomelia, as well as specific bone abnormalities visible on X-rays, referred to as punctate calcifications. Individuals with RCDP3 may also […]
Symptoms and Testing information for PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 Genetic Test
Symptoms of PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 Genetic Test Rhizomelic Chondrodysplasia Punctata (RCDP) type 5 is a rare genetic disorder that affects multiple systems in the body, including the skeletal system, eyes, and brain. This condition is caused by mutations in the PEX5 gene, which plays a crucial role in the normal functioning […]
Symptoms and Testing information for WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test
Symptoms of WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test Ritscher-Schinzel Syndrome Type 1, also known as Cranio-cerebello-cardiac (3C) syndrome, is a rare genetic disorder characterized by distinctive craniofacial features, cerebellar abnormalities, and congenital heart defects. The WASHC5 gene, previously known as KIAA0196, has been identified as a crucial gene associated with this syndrome. Understanding […]
Symptoms and Testing information for HNRNPU Gene RNA Processing Related Disorders Genetic Test
Symptoms of HNRNPU Gene RNA Processing Related Disorders Genetic Test The HNRNPU gene plays a critical role in RNA processing, which is essential for the proper functioning of cells in the human body. Mutations in the HNRNPU gene can lead to a variety of neurological and developmental disorders. Recognizing the symptoms associated with HNRNPU gene […]
Symptoms and Testing information for ESCO2 Gene Roberts Syndrome Genetic Test
Symptoms of ESCO2 Gene Roberts Syndrome Genetic Test Roberts Syndrome, a rare genetic disorder, has been a subject of study and concern within the medical community due to its significant impact on individuals’ lives. It is caused by mutations in the ESCO2 gene, which plays a critical role in the development of bones, limbs, and […]
Symptoms and Testing information for WNT5A Gene Robinow Syndrome Autosomal Dominant Type 1 Genetic Test
Robinow Syndrome is a rare genetic disorder that affects the development of various parts of the body. It is primarily characterized by distinctive facial features, skeletal abnormalities, and in some cases, heart and genital defects. The syndrome can be inherited in an autosomal dominant or autosomal recessive pattern. The focus of this article is on […]