Dysmorphology Diseases

Kabuki syndrome is a rare, multi-system disorder characterized by a range of physical and developmental abnormalities. Type 2 Kabuki syndrome, specifically, is associated with mutations in the KDM6A gene. This genetic condition affects many parts of the body, including facial features, growth, skeletal structure, and neurological development. Recognizing the symptoms early can lead to timely […]

In the realm of medical genetics, understanding the underlying causes of various diseases is paramount for diagnosis, treatment, and, in some cases, prevention. One such condition that has garnered attention for its genetic roots is Hirschsprung disease (HSCR), particularly its association with mutations in the ZEB2 gene. DNA Labs UAE is at the forefront of […]

### Article Content: Hyperphosphatasia with Mental Retardation Syndrome Type 3 (HPMRS3), also known as Mabry Syndrome, is a rare genetic disorder characterized by elevated levels of alkaline phosphatase in the blood, intellectual disability, and distinct facial features. This condition is caused by mutations in the PGAP2 gene. Understanding the symptoms and opting for a genetic […]

Hirschsprung disease is a serious condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present from birth (congenital) and is due to missing nerve cells in the muscles of part or all of the baby’s colon. A particular form of this disease, known as Hirschsprung Disease Type 3, […]

— Hyperphosphatasia with mental retardation syndrome type 4 (HPMRS4), also known as PGAP3 deficiency, is a rare genetic condition that affects various parts of the body, including the brain. This disorder is part of a group of diseases known as glycosylphosphatidylinositol (GPI) biosynthesis defects, which are characterized by intellectual disability, seizures, and skeletal abnormalities due […]

Symptoms of CDON Gene Holoprosencephaly Type 11 Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the embryonic forebrain. Among the genetic variations responsible for this condition, mutations in the CDON gene are identified as a cause of Holoprosencephaly Type 11. Recognizing the symptoms of this genetic condition is crucial for early […]

Understanding the genetic underpinnings of various syndromes is crucial in the field of medical genetics. One such condition, Hyperphosphatasia with Mental Retardation Syndrome Type 5 (HPMRS5), also known as Mabry Syndrome, has garnered attention due to its significant impact on affected individuals. This condition is caused by mutations in the PIGW gene, which plays a […]

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the early forebrain into distinct hemispheres. Among the genetic variations leading to this condition, mutations in the SIX3 gene are responsible for Holoprosencephaly type 2. DNA Labs UAE offers a comprehensive genetic test for those concerned about this condition, providing crucial insights into […]

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemispheres. This condition represents a spectrum of structural anomalies, which can be classified into several types, with Type 3, also known as semi-lobar holoprosencephaly, being one of the significant variants. Among the genetic underpinnings of […]

At DNA Labs UAE, we are dedicated to providing our clients with comprehensive genetic testing services to ensure the health and well-being of families across the UAE. One of the critical tests we offer is the TGIF1 Gene Holoprosencephaly Type 4 Genetic Test. This test is crucial for families with a history of genetic disorders […]