Atlas of X-Linked Intellectual Disability Syndromes（3）

著者名：Schwartz, Charles E. Ph.D./Stevenson, Roger E. M.D./Wang, Tao M.D., Ph.D.

Oxford University Press（2026/04/03発売）

• 言語：ENG
• ISBN：9780197809020
• eISBN：9780197809037

Description

Atlas of X-Linked Intellectual Disability Syndromes, 3rd Edition is a comprehensive reference for clinicians, laboratory geneticists, and researchers working to diagnose and understand X-linked intellectual disability (XLID). This updated edition presents a concise yet thorough overview of all known XLID syndromes, incorporating the latest clinical findings and gene discoveries.Each syndrome entry includes hallmark somatic features, developmental and neurological characteristics, patterns of female expression, and the causative gene if known. A differential diagnosis matrix that follows each entry helps narrow diagnostic possibilities and guides targeted genetic testing. Appendices group syndromes by shared clinical features, offering a practical tool for comparison.New content in this edition addresses duplications within the X chromosome involving XLID genes, XLID-associated Congenital Disorders of Glycosylation, skewed X-inactivation in female carriers, and genes that escape inactivation. The XLID Syndrome Atlas remains an essential tool for navigating the evolving genetics of intellectual disability.

Table of Contents

FOREWORD INTRODUCTIONAARSKOG SYNDROMEABIDI SYNDROME ADRENOLEUKODYSTROPHYAGENESIS OF THE CORPUS CALLOSUM, X-LINKED AHMAD SYNDROME AICARDI SYNDROME ALG13 CONGENITAL DISORDER OF GLYCOSYLATIONALLAN-HERNDON-DUDLEY SYNDROME ALPHA-THALASSEMIA INTELLECTUAL DISABILITY (SEE ALSO ATRX-ASSOCIATED XLID) AP1S2-ASSOCIATED XLIDAPAK ATAXIA-SPASTIC DIPLEGIA SYNDROME ARMFIELD SYNDROME ARTS SYNDROME ARX-ASSOCIATED XLID ATAXIA-DEAFNESS-DEMENTIA, X-LINKED ATAXIA-SEIZURES-HEARING LOSSATKIN-FLAITZ SYNDROME ATP6AP2 CONGENITAL DISORDER OF GLYCOSYLATIONATRX-ASSOCIATED XLID BERGIA CARDIOMYOPATHY BERTINI SYNDROME BÖRJESON-FORSSMAN-LEHMANN SYNDROME BRANCHIAL ARCH SYNDROME, X-LINKED C1GALT1C1 CHAPERONOPATHYCANTU 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 VARIANTCHASSAING-LACOMBE CHONDRODYSPLASIA CHRISTIAN SYNDROME CHRISTIANSON SYNDROME CHUDLEY-LOWRY SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID) CK SYNDROME COFFIN-LOWRY SYNDROME CORNELIA DE LANGE SYNDROME 2CORNELIA DE LANGE SYNDROME 5 CRANIOFACIOSKELETAL SYNDROME CREATINE TRANSPORTER DEFICIENCY DEAD/H-BOX-RELATED XLIDDEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85DHSRX CONGENITAL DISORDER OF GLYCOSYLATIONDUCHENNE MUSCULAR DYSTROPHY DYSKERATOSIS CONGENITA EPILEPSY-INTELLECTUAL DISABILITY IN FEMALES FITZSIMMONS SYNDROME FLNA-ASSOCIATED XLID FRAGILE X SYNDROME GABRA3-RELATED XLID-SEIZURESGALLOWAY-MOWAT SYNDROME 2 GIUFFRÈ-TSUKAHARA SYNDROME GLRA2-RELATED XLID GLYCEROL KINASE DEFICIENCY GOLABI-ITO-HALL SYNDROME: (SEE ALSO RENPENNING SYNDROME) GOLDBLATT SPASTIC PARAPLEGIA SYNDROME GOLTZ SYNDROME GPKOW-RELATED XLIDGRAHAM ANOPHTHALMIA SYNDROME GUSTAVSON SYNDROME HALL OROFACIAL SYNDROME HEREDITARY BULLOUS DYSTROPHY, X-LINKED HNRNPH2-RELATED XLID HOLMES-GANG SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID) HOMFRAY SEIZURES-CONTRACTURES HUTCHINSON SYNDROMEHYDE-FORSTER SYNDROME HYDRANENCEPHALY WITH ABNORMAL GENITALIA (SEE ALSO ARX-ASSOCIATED XLID) HYDROCEPHALY-CEREBELLAR AGENESIS SYNDROME HYDROCEPHALY-MASA SPECTRUM HYPOPARATHYROIDISM, X-LINKED INCONTINENTIA PIGMENTI JUBERG-MARSIDI-BROOKS SYNDROME KABUKI SYNDROME 2KANG SYNDROME KCND1-RELATED XLIDKDM5C-RELATED XLIDKEIPERT SYNDROMELENZ MICROPHTHALMIA SYNDROME LESCH-NYHAN SYNDROME LINEAR SKIN DEFECTS-MULTIPLE ANOMALIESLISSENCEPHALY AND ABNORMAL GENITALIA, X-LINKED (SEE ALSO ARX-ASSOCIATED XLID) LISSENCEPHALY, X-LINKED LOWE SYNDROME LUJAN SYNDROME MAGT1 CONGENITAL DISORDER OF GLYCOSYLATIONMARTIN-PROBST SYNDROME MED12-RELATED XLIDMEHMO SYNDROME MEND SYNDROMEMENKES SYNDROME MICROPHTHALMIA 2MICROPHTHALMIA 13MIDAS SYNDROME MILES-CARPENTER SYNDROME MOHR-TRANEBJAERG SYNDROME MONOAMINE OXIDASE-A DEFICIENCY MSL3-RELATED XLIDMUCOPOLYSACCHARIDOSIS IIA MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 MYOTUBULAR MYOPATHY NAA10-ASSOCIATED XLIDN-ALPHA-ACETYLTRANSFERASE DEFICIENCY NANCE-HORAN SYNDROMENEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS NKAP-RELATED XLIDNONO-RELATED XLIDNORRIE DISEASE O-GlcNAc TRANSFERASE DEFICIENCYOGDEN SYNDROME (SEE ALSO NAA10-ASSOCIATED XLID)OPITZ FG SYNDROME OPTIC ATROPHY, X-LINKED ORAL-FACIAL-DIGITAL SYNDROME I ORNITHINE TRANSCARBAMOYLASE DEFICIENCY OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSISOTOPALATODIGITAL 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 PIGA-ASSOCIATED XLIDPLOTT SYNDROME PORTEOUS SYNDROME (SEE ALSO RENPENNING SYNDROME) PPM-X PRIETO SYNDROME PROUD SYNDROME (SEE ALSO ARX-ASSOCIATED XLID) PYRUVATE DEHYDROGENASE DEFICIENCY RAYMOND TYPE XLIDRENPENNING SYNDROME RETT SYNDROME RETT-LIKE SEIZURES-HYPOTONIA RITSCHER-SCHINZEL SYNDROME 2RNF113A-RELATED XLIDSAY-MEYER SYNDROME SCHIMKE SYNDROME SH3KBP1-RELATED XLIDSHASHI SYNDROME SHRIMPTON SYNDROME SHUKLA-VERNON SYNDROMESIMPSON-GOLABI-BEHMEL SYNDROME SLC35A2 CONGENITAL DISORDER OF GLYCOSYLATION SLITRK2-RELATED XLIDSMARCA1-RELATED XLIDSMITH-FINEMAN-MYERS SYNDROME SNYDER-ROBINSON SYNDROME SSR4 CONGENITAL DISORDER OF GLYCOSYLATIONSTAG-RELATED HOLOPROSENCEPHALY STAG2-RELATED XLIDSTOCCO DOS SANTOS SYNDROME STOLL SYNDROME SUTHERLAND-HAAN SYNDROME (SEE ALSO RENPENNING SYNDROME) TARP SYNDROME TCEAL1-RELATED XLIDTELECANTHUS-HYPOSPADIAS SYNDROME TURNER XLID (SEE ALSO AP1S2-ASSOCIATED XLID) URBAN SYNDROMEUSP9X-RELATED XLIDVACTERL-HYDROCEPHALUS SYNDROME VASQUEZ SYNDROME WAISMAN-LAXOVA SYNDROME WARKANY SYNDROME WDR44 CILIOPATHYWIEACKER-WOLFF SYNDROME WIEACKER-WOLFF SYNDROME, FEMALE RESTRICTED WILSON-TURNER SYNDROME XLID-ARCH FINGERPRINTS-HYPOTONIA SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID) XLID-ATAXIA-APRAXIA XLID-ATAXIA-DEMENTIA XLID-ATAXIA-SEIZURESXLID-BLINDNESS-SEIZURES-SPASTICITY XLID-BRAIN ANOMALIES-ATAXIAXLID-CHOREOATHETOSIS XLID-CHOROIDEREMIA-ECTODERMAL DYSPLASIA XLID-CLEFT LIP/CLEFT PALATE XLID-EPILEPSY (XIDE) XLID-HYDROCEPHALY-BASAL GANGLIA CALCIFICATIONS (SEE ALSO AP1S2-ASSOCIATED XLID) XLID-HYPEREKPLEXIA-SEIZURESXLID-HYPOGAMMAGLOBULINEMIA XLID-HYPOGONADISM-TREMOR XLID-HYPOSPADIAS XLID-HYPOTONIA-RECURRENT INFECTIONS XLID-INFANTILE SPASMS (SEE ALSO ARX-ASSOCIATED XLID) XLID-ISOLATED GROWTH HORMONE DEFICIENCY XLID-MACROCEPHALY XLID-MACROCEPHALY-MACROORCHIDISM XLID-MICROCEPHALY-TESTICULAR FAILURE XLID-MITOCHONDRIAL MYOPATHYXLID-MULTIPLE ANOMALIES-EARLY LETHALITYXLID-NAIL DYSTROPHY-SEIZURES XLID-NYSTAGMUS-SEIZURES XLID-PANHYPOPITUITARISM XLID-PIGMENTARY MOSAICISMXLID-PSORIASIS XLID-RETICULATE HYPERPIMENTATIONXLID-RETINITIS PIGMENTOSA XLID-RETINOPATHY-SEIZURESXLID-ROLANDIC SEIZURES XLID-SEIZURES-APHASIA XLID-SPASTIC PARAPLEGIA, TYPE 7 XLID-SPASTIC PARAPLEGIA-ATHETOSIS XLID-SPONDYLOEPIMETAPHYSEAL DYSPLASIA XLID-TRIGONOCEPHALYX-LINKED OHDO SYNDROME X-LINKED OLIVOPONTOCEREBELLAR ATROPHYYOUNG-HUGHES SYNDROME ZC4H2-ASSOCIATED XLID ZFP92-RELATED XLIDZFX-RELATED XLIDZMYM3-RELATED XLIDAPPENDICESI. 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 PREDOMINANTLY AFFECTING FEMALES XIV. DUPLICATION OF XLID GENES AND REGIONS OF THE X-CHROMOSOME GENOME XV. X-INACTIVATION XVI A. Xp SYNDROMAL XLID GENESXVI B. Xq SYNDROMAL XLID GENES XVI C. SYNDROMAL XLID GENESXVII. SYNDROMAL XLID (LINKAGE LIMITS) XVIII. NONSYNDROMAL XLID FAMILIES (LINKAGE LIMITS)XIX. NONSYNDROMAL XLID FAMILIES XX. X-LINKED DISORDERS WITH INTELLECTUAL DISABILITY AND AUTISM INDEX