X-linked Severe Combined Immunodeficiency
X-linked Severe Combined Immunodeficiency Table of Contents Introduction X-linked Severe Combined Immunodeficiency (X-linked SCID) is a rare genetic disorder that primarily affects males. This condition is characterized by a severe impairment
X-linked Ichthyosis
X-linked Ichthyosis Table of Contents Introduction X-linked Ichthyosis is a genetic skin disorder that primarily affects males. This condition stems from an inborn metabolic error characterized by a deficiency of the
Hemophilia A
Hemophilia A Table of Contents Hemophilia A: An Overview Hemophilia A, classified as one of three types of hemophilia, is a relatively rare inherited blood disorder that affects the body’s
Hemophilia B
Hemophilia B Table of Contents Introduction to Hemophilia B: A Hereditary Bleeding Disorder Hemophilia B, previously referred to as Christmas disease, is an inherited bleeding disorder characterized by a deficiency
Ocular Albinism
Ocular Albinism Table of Contents INTRODUCTION Albinism refers to a group of genetic conditions characterized by a lack or reduction of pigment, which imparts color to the eyes, skin, and
Hunter Syndrome (MPS II)
Hunter Syndrome (MPS II) Table of Contents Alternate Terms for Hunter Syndrome (MPS II) Hunter Syndrome, a medical condition, is also known by several other names including: – Hunter Syndrome
Chronic Granulomatous Disease, X-linked
Chronic Granulomatous Disease, X-linked Table of Contents Other Names for This Condition Autosomal recessive chronic granulomatous disease CGD Granulomatous disease, chronic X-linked chronic granulomatous disease In vitro fertilization (IVF) and
Choroideremia
Choroideremia Table of Contents Introduction Choroideremia represents a form of chorioretinal dystrophy linked to the X chromosome, marked by the widespread and advancing deterioration of the retinal pigment epithelium (RPE),
Becker Muscular Dystrophy
Becker Muscular Dystrophy Table of Contents Introduction Becker muscular dystrophy (BMD) is classified within a spectrum of muscular dystrophies — a cluster of hereditary conditions that lead to progressive muscle