Dysmorphology Diseases

Symptoms of HUWE1 Gene Mental Retardation X-Linked Syndromic Turner Type Genetic Test The HUWE1 gene plays a critical role in the development and function of the nervous system. Mutations in this gene are associated with a condition known as Mental Retardation X-Linked Syndromic Turner type (MRXSLT). This condition is characterized by a range of neurological […]

Mandibulofacial Dysostosis with Microcephaly (MFDM) is a rare genetic disorder that presents with a spectrum of symptoms affecting various parts of the body, particularly the face and head. At the heart of diagnosing this condition is understanding the role of the EFTUD2 gene, which has been identified as a critical factor in the development of […]

Marden-Walker Syndrome (MWS) is a rare genetic disorder characterized by multiple congenital contractures (arthrogryposis), facial anomalies, and pulmonary hypoplasia, among other symptoms. It has been linked to mutations in the PIEZO2 gene, which plays a significant role in the body’s ability to respond to mechanical stimuli, such as touch and proprioception. DNA Labs UAE offers […]

Marfan Lipodystrophy Syndrome (MLS) is a rare genetic disorder that is characterized by a variety of symptoms affecting multiple organ systems, including the skeletal, ocular, cardiovascular, and integumentary systems. This condition is caused by mutations in the FBN1 gene, which plays a crucial role in the structure and function of connective tissue throughout the body. […]

Symptoms of FBN1 Gene Marfan Syndrome Genetic Test Marfan syndrome is a genetic disorder that affects the body’s connective tissue, which provides strength, support, and elasticity to the tendons, cartilage, heart valves, blood vessels, and other vital parts of the body. The condition is primarily caused by a mutation in the FBN1 gene, which plays […]

Martsolf syndrome is a rare genetic disorder characterized by a spectrum of symptoms including intellectual disability, cataracts, hypogonadism, and microcephaly. This condition is attributed to mutations in the RAB3GAP2 gene, which plays a critical role in cellular processes. Understanding the symptoms and undergoing genetic testing for the RAB3GAP2 gene can provide crucial information for families […]

In the realm of genetic diagnostics and personalized medicine, understanding the intricate details of specific genetic conditions is pivotal. One such condition that has garnered attention is the MASS syndrome, which is linked to mutations in the FBN1 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the FBN1 […]

In the realm of genetic testing and diagnosis, advancements have paved the way for the identification and management of rare genetic disorders. Among these, McLeod Syndrome, associated with or without Chronic Granulomatous Disease (CGD), presents a unique set of challenges and symptoms that necessitate comprehensive understanding and testing. DNA Labs UAE stands at the forefront […]

Lissencephaly, a rare, gene-linked brain malformation disorder, affects the development of the cerebral cortex. Among its types, Type 3, associated with mutations in the TUBA1A gene, presents a unique set of challenges and symptoms for those affected. DNA Labs UAE, a leading genetic laboratory, offers a comprehensive genetic test for TUBA1A Gene Lissencephaly Type 3, […]

Symptoms of PIK3R2 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome PIK3R2 gene megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, often abbreviated as MPPH syndrome, is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the PIK3R2 gene, which plays a crucial role in cell growth, proliferation, and survival. The symptoms of this syndrome can vary significantly […]