Each condition is different and has a unique set of symptoms.

To date, there have been hundreds of X-linked conditions identified – many of them are ultra-rare, only affecting a few people around the world. While all X-linked conditions are caused by mutations on the X chromosome, each condition is different and has a unique set of symptoms. For some of these conditions, females are impacted by symptoms more frequently and more severely, and for others, females are rarely impacted by symptoms. Whether or not a female with an X-linked condition has symptoms is determined by multiple factors, including underlying disease mechanisms and X-inactivation, which is poorly understood and unpredictable. To create more awareness, we built a Master List of identified X-linked conditions below.

Despite this, these conditions all have one thing in common—they are X-linked. If you’re unsure and curious what this means, there is more information on the How It Works page.

See How It Works

Master List of X-Linked Conditions

The following list does not include all X-linked conditions, but we are working on making it as comprehensive as possible.

→ Aarskog Syndrome

→ Aarskog Syndrome

→ Acrogigantism (X-Linked)

→ Acrogigantism (X-Linked)

→ Adrenal Hypoplasia Congenita

→ Adrenal Hypoplasia Congenita

→ Adrenoleukodystrophy

→ Adrenoleukodystrophy

→ Agammaglobulinemia (X-Linked)

→ Agammaglobulinemia (X-Linked)

→ Allan-Herndon-Dudley Syndrome

→ Allan-Herndon-Dudley Syndrome

→ Alpha Thalassemia X-linked Intellectual Disability Syndrome

→ Alpha Thalassemia X-linked Intellectual Disability Syndrome

→ Alport Syndrome

→ Alport Syndrome

→ Androgen Insensitivity Syndrome

→ Androgen Insensitivity Syndrome

→ Arts Syndrome

→ Barth Syndrome

→ Barth Syndrome

→ Becker Muscular Dystrophy

→ Becker Muscular Dystrophy

→ Blue Cone Monochromatism

→ Blue Cone Monochromatism

→ Börjeson-Forssman-Lehmann Syndrome

→ Börjeson-Forssman-Lehmann Syndrome

→ Chondrodysplasia Punctata 1 (X-Linked)

→ Chondrodysplasia Punctata 1 (X-Linked)

→ Chondrodysplasia Punctata 2 (X-Linked)

→ Chondrodysplasia Punctata 2 (X-Linked)

→ Choroideremia

→ Choroideremia

→ Christianson Syndrome

→ Christianson Syndrome

→ Chronic Granulomatous Disease

→ Chronic Granulomatous Disease

→ Claes-Jensen Syndrome

→ Claes-Jensen Syndrome

→ Cobalamin X

→ Cobalamin X

→ Coffin-Lowry Syndrome

→ Coffin-Lowry Syndrome

→ Congenital Stationary Night Blindness (X-Linked)

→ Congenital Stationary Night Blindness (X-Linked)

→ Congenital Retinoschisis (X-Linked)

→ Congenital Retinoschisis (X-Linked)

→ Cornelia de Lange Syndrome

→ Cornelia de Lange Syndrome

→ Creatine Transporter Deficiency

→ Creatine Transporter Deficiency

→ Dent Disease

→ Dent Disease

→ Dilated Cardiomyopathy (X-Linked)

→ Dilated Cardiomyopathy (X-Linked)

→ Dyskeratosis Congenita

→ Dyskeratosis Congenita

→ Duchenne Muscular Dystrophy

→ Duchenne Muscular Dystrophy

→ Danon Disease

→ Danon Disease

→ Dystonia-Parkinsonism (X-Linked)

→ Dystonia-Parkinsonism (X-Linked)

→ Emery-Dreifuss Muscular Dystrophy

→ Emery-Dreifuss Muscular Dystrophy

→ Fabry Disease

→ Fabry Disease

→ FG1 Syndrome

→ FG1 Syndrome

→ Fragile X Syndrome

→ Fragile X Syndrome

→ Glycereol Kinase Deficiency

→ Glycereol Kinase Deficiency

→ Giuffrè-Tsukahara Syndrome

→ Giuffrè-Tsukahara Syndrome

→ Glucose-6-Phosphate Dehydrogenase Deficiency

→ Glycogen Storage Disease Type IX

→ Glycogen Storage Disease Type IX

→ Hemophilia A and B

→ Hemophilia A and B

→ Hunter Syndrome

→ Hunter Syndrome

→ Hyper IgM Syndrome (X-Linked)

→ Hyper IgM Syndrome (X-Linked)

→ HNRNPH2-Related Neurodevelopmental Disorder

→ HNRNPH2-Related Neurodevelopmental Disorder

→ Hypophosphatemia (X-Linked)

→ Hypophosphatemia (X-Linked)

→ Ichthyosis (X-Linked)

→ Ichthyosis (X-Linked)

→ Incomplete Achromatopsia (X-Linked)

→ Incomplete Achromatopsia (X-Linked)

→ Infantile Spinal Muscular Atrophy (X-Linked)

→ Infantile Spinal Muscular Atrophy (X-Linked)

→ Intellectual Disability, Siderius Type (X-Linked)

→ Intellectual Disability, Siderius Type (X-Linked)

→ IPEX Syndrome

→ IPEX Syndrome

→ XMEN (X-Linked)

→ XMEN (X-Linked)

→ Juvenile Retinoschisis (X-Linked)

→ Kabuki Syndrome (KDM6A mutation)

→ Kabuki Syndrome (KDM6A mutation)

→ Keipert Syndrome

→ Keipert Syndrome

→ Kennedy’s Disease

→ Kennedy’s Disease

→ Lesch-Nyhan Syndrome

→ Lesch-Nyhan Syndrome

→ Lowe Syndrome

→ Lowe Syndrome

→ Lujan-Fryns Syndrome

→ Lujan-Fryns Syndrome

→ Lymphoproliferative Disease (X-Linked)

→ Lymphoproliferative Disease (X-Linked)

→ L1 Syndrome

→ L1 Syndrome

→ MECP2 Duplication Syndrome

→ MECP2 Duplication Syndrome

→ MECP2 Disorders

→ MECP2 Disorders

→ McLeod Neuroacanthocytosis Syndrome

→ McLeod Neuroacanthocytosis Syndrome

→ Menkes Disease

→ Menkes Disease

→ Myotubular Myopathy (X-Linked)

→ Myotubular Myopathy (X-Linked)

→ NEMO Deficiency Syndrome

→ NEMO Deficiency Syndrome

→ Nephrogenic Diabetes Insipidus (X-Linked)

→ Norrie Disease

→ Norrie Disease

→ Occipital Horn Syndrome

→ Occipital Horn Syndrome

→ Ocular Albinism (Type 1)

→ Ocular Albinism (Type 1)

→ Ohdo Syndrome (X-Linked)

→ Ohdo Syndrome (X-Linked)

→ Opitz G/BBB Syndrome (X-Linked)

→ Opitz G/BBB Syndrome (X-Linked)

→ OPHN1 Syndrome

→ OPHN1 Syndrome

→ Ornithine Transcarbamylase Deficiency

→ Ornithine Transcarbamylase Deficiency

→ Otopalatodigital Spectrum Disorders (X-Linked)

→ Otopalatodigital Spectrum Disorders (X-Linked)

→ Pelizaeus-Merzbacher Disease

→ Pelizaeus-Merzbacher Disease

→ Protoporphyria (X-Linked)

→ Protoporphyria (X-Linked)

→ Retinitis Pigmentosa (X-Linked)

→ Retinitis Pigmentosa (X-Linked)

→ Severe Combined Immunodeficiency (X-Linked)

→ Severe Combined Immunodeficiency (X-Linked)

→ Simpson-Golabi-Behmel Disease

→ Simpson-Golabi-Behmel Disease

→ Sideroblastic Anemia (X-Linked)

→ Sideroblastic Anemia (X-Linked)

→ Spondyloepiphyseal Dysplasia Tarda (X-Linked)

→ Spondyloepiphyseal Dysplasia Tarda (X-Linked)

→ Snyder-Robinson Syndrome

→ Snyder-Robinson Syndrome

→ TARP Syndrome

→ TARP Syndrome

→ Wiskott-Aldrich Syndrome

→ Wiskott-Aldrich Syndrome

→ Terminal Osseous Dysplasia

→ Terminal Osseous Dysplasia

→ Xq28 Duplication Syndrome

→ Xq28 Duplication Syndrome

Do you know an X-linked condition not listed above? Help us add it:

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