by Remember The Girls | Jul 1, 2022
Back to Previous Hypophosphatemia (X-Linked) X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of...
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...
