Kabuki syndrome, a rare, multisystem disorder, is characterized by distinctive facial features, growth delays, skeletal abnormalities, and a range of other clinical manifestations. While Kabuki syndrome type 1 has been widely recognized, advancements in genetic testing have led to the identification of Kabuki syndrome type 2, caused by mutations in the KDM6A gene. Recognizing the […]
Symptoms of NDUFS4 Gene Leigh Syndrome Leigh syndrome, also known as Leigh disease, is a severe neurological disorder that typically arises in the first year of a child’s life. This condition is characterized by progressive loss of mental and movement abilities, which can lead to severe neurological and physical decline. One of the genetic causes […]
In the realm of genetic testing and diagnosis, understanding the intricacies of specific syndromes is pivotal for effective management and treatment. Joubert Syndrome Type 2, associated with mutations in the TMEM216 gene, is a rare genetic disorder that impacts the development of the cerebellum and brainstem, leading to a range of developmental and physical manifestations. […]
Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, an area of the brain that controls balance and coordination. Type 20, caused by mutations in the TMEM231 gene, is one of the many variants of this condition. DNA Labs UAE offers a comprehensive genetic test for those who suspect they […]
Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. Joubert Syndrome Type 21, caused by mutations in the CSPP1 gene, is one of the many subtypes of this condition. DNA Labs UAE offers a comprehensive genetic test for families seeking […]
Symptoms of PDE6D Gene Joubert Syndrome Type 22 Joubert Syndrome Type 22, caused by mutations in the PDE6D gene, is a rare genetic disorder that affects multiple areas of the body, including the brain, eyes, kidneys, and liver. This condition is part of a group of disorders known as ciliopathies, which are characterized by abnormalities […]
Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. Type 23 of this syndrome, specifically linked to mutations in the KIAA0586 gene, presents unique challenges and symptoms for those affected. At DNA Labs UAE, we offer a comprehensive genetic test […]
Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. Among the various genes associated with this condition, mutations in the TCTN2 gene have been identified as a cause of Joubert Syndrome Type 24. Recognizing the symptoms and understanding the genetic […]
Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, an area of the brain that controls balance and coordination. Joubert Syndrome Type 3, in particular, is caused by mutations in the AHI1 gene. This condition is characterized by a distinctive “molar tooth sign” visible on brain imaging, alongside a variety […]
Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. Among the various genes associated with Joubert Syndrome, mutations in the NPHP1 gene are known to cause Joubert Syndrome Type 4. This specific type of Joubert Syndrome can lead to a […]
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.
