Dysmorphology Diseases

Microcephaly with cortical malformations, Autosomal Recessive Type 2, is a rare genetic disorder caused by mutations in the WDR62 gene. This condition is characterized by significantly reduced head size (microcephaly) and abnormalities in the cerebral cortex, the part of the brain responsible for many important functions including memory, attention, perceptual awareness, thought, language, and consciousness. […]

Microcephaly with epilepsy and diabetes syndrome (MEDS), also known as IER3IP1 syndrome, is a rare genetic condition that presents a complex array of symptoms affecting various systems within the body. This condition is attributed to mutations in the IER3IP1 gene, which plays a significant role in the development and function of the nervous system and […]

Symptoms of KIF11 Gene Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation (MCLMR) Genetic Test Understanding the symptoms associated with KIF11 Gene Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation (MCLMR) is crucial for early diagnosis and management of this rare genetic disorder. The KIF11 gene plays a significant role in cell division […]

— Understanding the GFM2 Gene Microcephaly with Simplified Gyral Pattern and Insulin-Dependent Diabetes In the realm of genetic testing and diagnostics, DNA Labs UAE stands at the forefront, offering a wide array of genetic tests designed to uncover and understand various genetic conditions. Among these, the test for GFM2 Gene Microcephaly with Simplified Gyral Pattern […]

— Understanding the symptoms of SLC25A19 Gene Microcephaly Amish Type is crucial for early diagnosis and management. This genetic condition, rare and predominantly found within certain populations, necessitates a comprehensive approach for identification and intervention. At DNA Labs UAE, we offer a specialized genetic test designed to detect mutations in the SLC25A19 gene, which is […]

Microcephaly is a rare neurological condition where an infant’s head is significantly smaller than the heads of other children of the same age and sex. This condition can be the result of a variety of genetic and environmental factors. Among the genetic causes, mutations in the AP4M1 gene have been identified as a significant contributor. […]

Microcephaly is a medical condition where a baby’s head is significantly smaller than expected, often due to abnormal brain development. One genetic cause of this condition is mutations in the MCPH1 gene, leading to a form of the disorder known as Microcephaly Autosomal Recessive Type 1. Recognizing the symptoms of this condition early on can […]

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia (small ears), and patellar aplasia/hypoplasia (absent or underdeveloped kneecaps). It is a condition that affects many parts of the body and is known for its significant variability in clinical presentation. Among the various genes associated with Meier-Gorlin syndrome, mutations in the […]

Microcephaly is a rare neurological condition in which an infant’s head is significantly smaller than the heads of other children of the same age and sex. This condition often occurs because the brain has not developed properly during pregnancy or has stopped growing after birth, resulting in a smaller head size. Autosomal recessive primary microcephaly […]

Symptoms of MED13L Syndrome MED13L syndrome, also known as the MED13L haploinsufficiency syndrome, is a rare genetic condition that can lead to various developmental disorders, including intellectual disability and distinctive facial features. In some cases, individuals with MED13L syndrome may also have cardiac defects. Understanding the symptoms and getting an accurate diagnosis is crucial for […]