X-Linked Diseases

Video Source: Children's National Hospital

Females with X-linked conditions have inherited the defective gene from either their mother or father, or in rare cases, have spontaneously developed a mutated gene on one of their X chromosomes. They themselves have a 50% chance of passing the gene down to any children they have. While females have two X chromosomes and have traditionally been considered "carriers," many females experience symptoms of their disease due to a process called X inactivation.


Below is our list of X-linked diseases. Please click on the lightning bolt icon to learn more about each condition. Unfortunately, not all sources below go into detail about symptoms experienced by female "carriers," as research on this topic is sparse.

Aarskog Syndrome


Alpha Thalassemia

X-linked Intellectual Disability Syndrome

Alport Syndrome

Androgen Insensitivity Syndrome

Barth Syndrome

Becker Muscular Dystrophy

Börjeson-Forssman-Lehmann Syndrome


Chronic Granulomatous Disease

Coffin-Lowry Syndrome

Cornelia de Lange Syndrome (HDAC8 or SMC1A mutations)

Danon Disease

Duchenne Muscular Dystrophy

Dyskeratosis Congenita (DKC1 mutation)

Emery-Dreifuss Muscular Dystrophy 1

FG1 Syndrome

Fragile X Syndrome

Giuffrè-Tsukahara Syndrome

Hemophilia A/B

Hunter Syndrome

Hyper IgM Syndrome

Kabuki Syndrome (KDM6A mutation)

Keipert Syndrome

Kennedy's Disease

Lesch-Nyhan Syndrome

Lowe Syndrome

L1 Syndrome

Menkes Disease

Myotubular Myopathy

Norrie Disease

Occipital Horn Syndrome

Ocular Albinism (Type 1)

Ornithine Transcarbamylase Deficiency

Pelizaeus-Merzbacher Disease

Simpson-Golabi-Behmel Disese

TARP Syndrome

Wiskott-Aldrich Syndrome

X-Linked Agammaglobulinemia

X-Linked Dystonia Parkinsonism

X-Linked Hypohidrotic Ectodermal Dysplasia

X-Linked Hypophosphatemia

X-Linked Ichthyosis

X-Linked Incomplete Achromatopsia

X-Linked Infantile Spinal Muscular Atrophy

X-Linked Intellectual Disability, Siderius Type

X-Linked Liver Glycogenesis (GSD-IXa)

X-Linked Periventricular Nodular Heteropia

X-Linked Porphyria

X-Linked Retinitis Pigmentosa

X-Linked Juvenile Retinoschisis

X-Linked Severe Combined Immunodeficiency

X-Linked Sideroblastic Anemia

X-Linked Dilated Cardiomyopathy

MECP2 Duplication Syndrome

Glycereol Kinase Deficiency

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Adrenal Hypoplasia Congenita

Cobalamin X

Creatine Transporter Deficiency

Blue Cone Monochromacy

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