The authors have extensive experience in the clinical and laboratory delineation of X-linked intellectual disability. They have described new syndromes, regionally mapped disease loci on the X chromosome, and identified the genes responsible for X-linked syndromes.
Aarskog Syndrome Abidi Syndrome Adrenoleukodystrophy Ahmad Syndrome Aicardi Syndrome Allan-Herndon-Dudley Syndrome Alpha-Thalassemia Intellectual Disability (see also ATRX-Associated XLID)
AP1S2-Associated XLID Apak Ataxia-Spastic Diplegia Syndrome Arena Syndrome (see Pelizaeus-Merzbacher Syndrome)
Armfield Syndrome Arts Syndrome ARX-Associated XLID Ataxia-Deafness-Dementia, X-linked Atkin-Flaitz Syndrome ATRX-Associated XLID Bergia Cardiomyopathy Bertini Syndrome Börjeson-Forssman-Lehmann Syndrome Branchial Arch Syndrome, X-Linked Cantu Syndrome Carpenter-Waziri Syndrome (see also ATRX-Associated XLID)
Cerebro-Cerebello-Coloboma Syndrome Cerebro-Oculo-Genital Syndrome Cerebro-Palato-Cardiac Syndrome (see also Renpenning Syndrome)
Charcot-Marie-Tooth Neuropathy, Cowchock Variant Charcot-Marie-Tooth Neuropathy, Ionasescu Variant Chassaing-Lacombe Chondrodysplasia Christian Syndrome Christianson Syndrome Chudley-Lowry Syndrome (see also ATRX-Associated XLID)
CK Syndrome Clark-Baraitser Syndrome Coffin-Lowry Syndrome Cornelia de Lange Syndrome, X-Linked Craniofacioskeletal Duchenne Muscular Dystrophy Dyskeratosis Congenita Epilepsy-Intellectual Disability in Females Fitzsimmons Syndrome FLNA-Associated XLID Fragile X Syndrome Giuffré-Tsukahara Syndrome Glycerol Kinase Deficiency Golabi-Ito-Hall Syndrome (see also Renpenning Syndrome)
Goldblatt Spastic Paraplegia Syndrome Goltz Syndrome Graham Anophthalmia Syndrome Gustavson Syndrome Hall Orofacial Syndrome Hereditary Bullous Dystrophy, X-Linked Holmes-Gang Syndrome (see also ATRX-Associated XLID)
Homfray Seizures-Contractures Hyde-Forster Syndrome Hydranencephaly with Abnormal Genitalia Hydrocephaly-Cerebellar Agenesis Syndrome Hydrocephaly-MASA Spectrum Hypoparathyroidism, X-Linked Incontinentia Pigmenti Juberg-Marsidi-Brooks Kang Syndrome Lenz Microphthalmia Syndrome Lesch-Nyhan Syndrome Lissencephaly and Abnormal Genitalia, X-Linked (see also ARX-Associated XLID)
Lissencephaly, X-Linked Lowe Syndrome Lujan Syndrome MEHMO Syndrome Menkes Syndrome MIDAS Syndrome Miles-Carpenter Syndrome Mohr-Tranebjaerg Syndrome Monoamine Oxidase-A Deficiency Mucopolysaccharidosis IIA Myotubular Myopathy Nance-Horan Syndrome Norrie Disease Optic Atrophy, X-Linked Opitz FG Syndrome Oral-Facial-Digital Syndrome I Ornithine Transcarbamoylase Deficiency Otopalatodigital Syndrome I (see also FLNA-Associated XLID)
Otopalatodigital Syndrome II (see also FLNA-Associated XLID)
Paine Syndrome Pallister W Syndrome Partington Syndrome (see also ARX-Associated XLID)
Pelizaeus-Merzbacher Syndrome Periventricular Nodular Heterotopia (see also FLNA-Associated XLID)
Pettigrew Syndrome Phosphoglycerate Kinase Deficiency Plott Syndrome Porteous Syndrome (see also Renpenning Syndrome)
PPM-X Prieto Syndrome Proud Syndrome (see also ARX-Associated XLID)
Pyruvate Dehydrogenase Deficiency Renpenning Syndrome Rett Syndrome Rett-like Seizures-Hypotonia Roifman Syndrome Say-Meyer Syndrome Schimke Syndrome Shashi Syndrome Shrimpton Syndrome Simpson-Golabi-Behmel Syndrome Smith-Fineman-Myers Syndrome Snyder-Robinson Syndrome Stocco dos Santos Syndrome Stoll Syndrome Sutherland-Haan Syndrome (see also Renpenning Syndrome)
Telecanthus-Hypospadias Syndrome Turner XLID Urban Syndrome VACTERL-Hydrocephalus Syndrome Vasquez Syndrome Waisman-Laxova Syndrome Warkany Syndrome Wieacker-Wolff Syndrome Wilson-Turner Syndrome Wittwer Syndrome XLID-Agenesis of the Corpus Callosum XLID-Arch Fingerprints-Hypotonia Syndrome (see also ATRX-Associated XLID)
XLID-Ataxia-Apraxia XLID-Ataxia-Dementia XLID-Blindness-Seizures-Spasticity XLID-Choreoathetosis XLID-Choroideremia-Ectodermal Dysplasia XLID-Cleft Lip/Cleft Palate XLID-Epilepsy (XIDE)
XLID-Hydrocephaly-Basal Ganglia Calcifications (see also AP1S2-Associated XLID)
XLID-Hypogammaglobulinemia XLID-Hypogonadism-Tremor XLID-Hypospadias XLID-Hypotonia-Recurrent Infections XLID-Ichthyosis-Hypogonadism XLID-Infantile Spasms (see also ARX-Associated XLID)
XLID-Isolated Growth Hormone Deficiency XLID-Macrocephaly XLID-Macrocephaly-Macroorchidism XLID-Microcephaly-Testicular Failure XLID-Nail Dystrophy-Seizures XLID-Nystagmus-Seizures XLID-Optic Atrophy XLID-Panhypopituitarism XLID-Precocious Puberty XLID-Psoriasis XLID-Retinitis Pigmentosa XLID-Rolandic Seizures XLID-Spastic Paraplegia, Type 7
XLID-Spastic Paraplegia-Athetosis XLID-Spondyloepimetaphyseal Dysplasia XLID-Thyroid Aplasia-Cutis Verticis Gyrata XLID-Thyroxine-Binding Globulin Deficiency Young-Hughes Syndrome
Appendices I. Genes Involved in X-Linked Intellectual Disability (by order of discovery)
II. XLID Syndromes with Microcephaly III. XLID Syndromes with Macrocephaly IV. XLID Syndromes with Ocular Anomalies and/or Visual Impairment V. XLID Syndrome with Hearing Loss VI. XLID Syndromes with Facial Clefting VII. XLID Syndromes with Cardiac Malformations or other Cardiovascular Abnormalities VIII. XLID Syndromes with Urogenital Anomalies IX. XLID Syndromes with Neuronal Migration Disturbance X. XLID Syndromes with Spastic Paraplegia XI. XLID Syndromes with Seizures XII. XLID Syndromes with Hypotonia XIII. XLID Syndromes Predominately Affecting Females XIV. Duplication of XLID Genes and Regions of the X Chromosome Genome XV. Non-Syndromal XLID Families XVI. X-Inactivation in Heterozygous Females
Overview
The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible ...