by Remember The Girls | Jun 8, 2022
Back to Previous Ichthyosis (X-Linked) X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes)...
by Remember The Girls | Jun 8, 2022
Back to Previous Incomplete Achromatopsia (X-Linked) X-linked incomplete achromatopsia (XIA), also called blue-cone monochromacy (BCM), is a rare cone disorder that most commonly results either from one of two conditions. The first condition is a deletion of the locus...
by Remember The Girls | Jun 8, 2022
Back to Previous Infantile Spinal Muscular Atrophy (X-Linked) X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the...
by Remember The Girls | Jun 1, 2022
Back to Previous Intellectual Disability, Siderius Type (X-Linked) X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are...
by Remember The Girls | Jun 1, 2022
Back to Previous IPEX Syndrome Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, more commonly known as IPEX syndrome, is a rare genetic disorder that can present early in life with diabetes, diarrhea and eczema. The condition is...
