Atlas of X-Linked Intellectual Disability Syndromes

• Each chapter contains a differential matrix for each XLID syndrome and extensive illustrations of clinical features
• Written by authorities actively involved in clinical delineation and research of X-linked intellectual disability
• Contains comprehensive coverage of all XLID syndromes; all major XLID syndromes defined at the molecular level

Readership: Clinical geneticists, molecular geneticists, developmental pediatricians, genetic counselors, neuroscientists including neurologists, it will also appeal to all students of human development.

Roger E. Stevenson, Director, Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Charles E. Schwartz, Director of Research, Greenwood Genetic Center, and R. Curtis Rogers, Director of the Greenville Office, Greenwood Genetic Center

Roger E. Stevenson, M.D., is a senior clinical geneticist and founder of the Greenwood Genetic Center. Charles E. Schwartz, Ph.D., is the Director of Research and Head of J.C. Self Research Institute at the Greenwood Genetic Center. R. Curtis Rogers, M.D., is a senior clinical geneticist at the Greenwood Genetic Center.

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