Symptoms and Testing information for QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy Genetic Test

Symptoms and Testing information for QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy Genetic Test

At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help diagnose and manage a variety of genetic conditions. One of the conditions we focus on is related to mutations in the QARS1 gene, which can lead to a complex neurological disorder characterized by microcephaly, progressive seizures, and cerebral and cerebellar […]

Symptoms and Testing information for AP4M1 Gene Microcephaly AP4M1 Related Genetic Test

Symptoms and Testing information for AP4M1 Gene Microcephaly AP4M1 Related Genetic Test

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. […]

Symptoms and Testing information for CDT1 Gene Meier-Gorlin Syndrome Type 4 Genetic Test

Symptoms and Testing information for CDT1 Gene Meier-Gorlin Syndrome Type 4 Genetic Test

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 […]

Symptoms and Testing information for MED13L Gene Mental Retardation and Distinctive Facial Features with or without Cardiac Defects Genetic Test

Symptoms and Testing information for MED13L Gene Mental Retardation and Distinctive Facial Features with or without Cardiac Defects Genetic Test

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 […]

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