Duchenne muscular dystrophy (DMD) is a rare X-linked recessive genetic disorder caused by mutations in the DMD gene, leading to the loss of dystrophin protein. Dystrophin is critical for maintaining the stability of muscle cell membranes. The incidence of DMD…
Deafness is one of the most common congenital birth defects. Worldwide, the incidence of hearing loss in newborns is 1.86‰, and more than 60% of deafness cases are attributed to genetic factors. Hereditary deafness is classified into two categories: Syndromic…
What is CDKL5 Deficiency Disorder? CDKL5 Deficiency Disorder (CDD) is a rare X-linked genetic brain disorder caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene. Affected infants typically develop seizures within the first few months of life, accompanied…
