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 […]
Microcephaly is a medical condition where a baby’s head is significantly smaller than expected, often due to abnormal brain development. Autosomal recessive microcephaly type 12, linked to the CDK6 gene, is a rare genetic disorder that can lead to a range of developmental issues. Recognizing the symptoms early on can be crucial for managing the […]
Understanding DYNC1H1 Gene Mental Retardation Autosomal Dominant Type 13 The DYNC1H1 gene plays a critical role in the development and function of the nervous system. Mutations in the DYNC1H1 gene can lead to a condition known as Mental Retardation, Autosomal Dominant Type 13. This genetic disorder affects the brain’s development and function, leading to a […]
Microcephaly is a medical condition characterized by a smaller than normal head size in infants and children, which often leads to developmental delays and neurological problems. One specific genetic cause of microcephaly is mutations in the CENPE gene, leading to a condition known as Microcephaly Autosomal Recessive Type 13. Understanding the symptoms of this condition […]
In the realm of medical genetics, understanding the intricate web of genes and their impact on health is a constantly evolving field. One such area of focus is the INPP5E gene and its associated conditions. This gene plays a crucial role in the development and function of various bodily systems, and mutations in this gene […]
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 can be the result of a variety of genetic and environmental factors. Among the genetic causes, mutations in the CDK5RAP2 gene are known to cause Microcephaly Autosomal […]
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 […]
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