Symptoms of CEP63 Gene Seckel Syndrome Type 6 Seckel Syndrome Type 6, caused by mutations in the CEP63 gene, is a rare genetic disorder characterized by a range of symptoms that significantly impact the affected individuals. This condition is part of a group of disorders known as Seckel syndrome, which is primarily associated with growth […]
Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder characterized by a wide range of physical, cognitive, and medical challenges. It is caused by mutations in the CREBBP and EP300 genes, which play crucial roles in the development of various tissues throughout the body. Understanding the symptoms and obtaining a definitive diagnosis through genetic testing is […]
Saethre-Chotzen Syndrome (SCS) is a congenital condition, primarily characterized by craniosynostosis, which is the premature fusion of one or more cranial sutures leading to an abnormal head shape. It also involves facial asymmetries, ptosis (drooping of the upper eyelid), and limb abnormalities. This condition is caused by mutations in the FGFR2 (Fibroblast Growth Factor Receptor […]
Symptoms of RDH11 Gene Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome The RDH11 gene plays a critical role in the visual cycle and overall development, mutations in which can lead to a complex syndrome characterized by retinal dystrophy, juvenile cataracts, and short stature. Understanding the symptoms associated with this genetic condition is crucial for […]
Saethre-Chotzen Syndrome (SCS) is a congenital condition characterized by craniosynostosis, which is the premature fusion of skull bones, leading to abnormalities in the shape of the head and face. This condition is caused by mutations in the TWIST1 gene, and understanding the symptoms can be crucial for early diagnosis and treatment. DNA Labs UAE offers […]
Rett Syndrome is a rare, severe neurological disorder that predominantly affects females. It leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The key to understanding this complex condition lies in the genetics, specifically mutations in the MECP2 gene. Recognizing the symptoms […]
Phocomelia Syndrome, also known as Roberts Syndrome (RBS) or SC Phocomelia Syndrome, is a rare genetic disorder characterized by severe prenatal and postnatal growth retardation, limb deficiencies, and facial anomalies. The syndrome is caused by mutations in the ESCO2 gene, which plays a crucial role in the cohesion of sister chromatids during cell division. Due […]
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 […]
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 […]
— 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 […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
