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Produktbild: Atlas of X-Linked Intellectual Disability Syndromes

Atlas of X-Linked Intellectual Disability Syndromes

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Beschreibung

Produktdetails

Einband

Gebundene Ausgabe

Erscheinungsdatum

17.04.2026

Verlag

Oxford Academic

Seitenzahl

520

Maße (L/B/H)

28,5/22,2/3,6 cm

Gewicht

1347 g

Auflage

3rd edition

Sprache

Englisch

ISBN

978-0-19-780902-0

Beschreibung

Produktdetails

Einband

Gebundene Ausgabe

Erscheinungsdatum

17.04.2026

Verlag

Oxford Academic

Seitenzahl

520

Maße (L/B/H)

28,5/22,2/3,6 cm

Gewicht

1347 g

Auflage

3rd edition

Sprache

Englisch

ISBN

978-0-19-780902-0

Herstelleradresse

Libri GmbH
Europaallee 1
36244 Bad Hersfeld
DE

Email: gpsr@libri.de

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  • Produktbild: Atlas of X-Linked Intellectual Disability Syndromes

    • FOREWORD

    • INTRODUCTION

    • AARSKOG SYNDROME

    • ABIDI SYNDROME

    • ADRENOLEUKODYSTROPHY

    • AGENESIS OF THE CORPUS CALLOSUM, X-LINKED

    • AHMAD SYNDROME

    • AICARDI SYNDROME

    • ALG13 CONGENITAL DISORDER OF GLYCOSYLATION

    • ALLAN-HERNDON-DUDLEY SYNDROME

    • ALPHA-THALASSEMIA INTELLECTUAL DISABILITY (SEE ALSO ATRX-ASSOCIATED XLID)

    • AP1S2-ASSOCIATED XLID

    • APAK ATAXIA-SPASTIC DIPLEGIA SYNDROME

    • ARMFIELD SYNDROME

    • ARTS SYNDROME

    • ARX-ASSOCIATED XLID

    • ATAXIA-DEAFNESS-DEMENTIA, X-LINKED

    • ATAXIA-SEIZURES-HEARING LOSS

    • ATKIN-FLAITZ SYNDROME

    • ATP6AP2 CONGENITAL DISORDER OF GLYCOSYLATION

    • ATRX-ASSOCIATED XLID

    • BERGIA CARDIOMYOPATHY

    • BERTINI SYNDROME

    • BÖRJESON-FORSSMAN-LEHMANN SYNDROME

    • BRANCHIAL ARCH SYNDROME, X-LINKED

    • C1GALT1C1 CHAPERONOPATHY

    • 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

    • CHASSAING-LACOMBE CHONDRODYSPLASIA

    • CHRISTIAN SYNDROME

    • CHRISTIANSON SYNDROME

    • CHUDLEY-LOWRY SYNDROME (SEE ALSO ATRX-ASSOCIATED XLID)

    • CK SYNDROME

    • COFFIN-LOWRY SYNDROME

    • CORNELIA DE LANGE SYNDROME 2

    • CORNELIA DE LANGE SYNDROME 5

    • CRANIOFACIOSKELETAL SYNDROME

    • CREATINE TRANSPORTER DEFICIENCY

    • DEAD/H-BOX-RELATED XLID

    • DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85

    • DHSRX CONGENITAL DISORDER OF GLYCOSYLATION

    • DUCHENNE MUSCULAR DYSTROPHY

    • DYSKERATOSIS CONGENITA

    • EPILEPSY-INTELLECTUAL DISABILITY IN FEMALES

    • FITZSIMMONS SYNDROME

    • FLNA-ASSOCIATED XLID

    • FRAGILE X SYNDROME

    • GABRA3-RELATED XLID-SEIZURES

    • GALLOWAY-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 XLID

    • GRAHAM 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 SYNDROME

    • HYDE-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 2

    • KANG SYNDROME

    • KCND1-RELATED XLID

    • KDM5C-RELATED XLID

    • KEIPERT SYNDROME

    • LENZ MICROPHTHALMIA SYNDROME

    • LESCH-NYHAN SYNDROME

    • LINEAR SKIN DEFECTS-MULTIPLE ANOMALIES

    • LISSENCEPHALY AND ABNORMAL GENITALIA, X-LINKED (SEE ALSO ARX-ASSOCIATED XLID)

    • LISSENCEPHALY, X-LINKED

    • LOWE SYNDROME

    • LUJAN SYNDROME

    • MAGT1 CONGENITAL DISORDER OF GLYCOSYLATION

    • MARTIN-PROBST SYNDROME

    • MED12-RELATED XLID

    • MEHMO SYNDROME

    • MEND SYNDROME

    • MENKES SYNDROME

    • MICROPHTHALMIA 2

    • MICROPHTHALMIA 13

    • MIDAS SYNDROME

    • MILES-CARPENTER SYNDROME

    • MOHR-TRANEBJAERG SYNDROME

    • MONOAMINE OXIDASE-A DEFICIENCY

    • MSL3-RELATED XLID

    • MUCOPOLYSACCHARIDOSIS IIA

    • MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2

    • MYOTUBULAR MYOPATHY

    • NAA10-ASSOCIATED XLID

    • N-ALPHA-ACETYLTRANSFERASE DEFICIENCY

    • NANCE-HORAN SYNDROME

    • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5

    • NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS

    • NKAP-RELATED XLID

    • NONO-RELATED XLID

    • NORRIE DISEASE

    • O-GlcNAc TRANSFERASE DEFICIENCY

    • OGDEN 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 SCLEROSIS

    • 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

    • PIGA-ASSOCIATED XLID

    • PLOTT SYNDROME

    • PORTEOUS SYNDROME (SEE ALSO RENPENNING SYNDROME)

    • PPM-X

    • PRIETO SYNDROME

    • PROUD SYNDROME (SEE ALSO ARX-ASSOCIATED XLID)

    • PYRUVATE DEHYDROGENASE DEFICIENCY

    • RAYMOND TYPE XLID

    • RENPENNING SYNDROME

    • RETT SYNDROME

    • RETT-LIKE SEIZURES-HYPOTONIA

    • RITSCHER-SCHINZEL SYNDROME 2

    • RNF113A-RELATED XLID

    • SAY-MEYER SYNDROME

    • SCHIMKE SYNDROME

    • SH3KBP1-RELATED XLID

    • SHASHI SYNDROME

    • SHRIMPTON SYNDROME

    • SHUKLA-VERNON SYNDROME

    • SIMPSON-GOLABI-BEHMEL SYNDROME

    • SLC35A2 CONGENITAL DISORDER OF GLYCOSYLATION

    • SLITRK2-RELATED XLID

    • SMARCA1-RELATED XLID

    • SMITH-FINEMAN-MYERS SYNDROME

    • SNYDER-ROBINSON SYNDROME

    • SSR4 CONGENITAL DISORDER OF GLYCOSYLATION

    • STAG-RELATED HOLOPROSENCEPHALY

    • STAG2-RELATED XLID

    • STOCCO DOS SANTOS SYNDROME

    • STOLL SYNDROME

    • SUTHERLAND-HAAN SYNDROME (SEE ALSO RENPENNING SYNDROME)

    • TARP SYNDROME

    • TCEAL1-RELATED XLID

    • TELECANTHUS-HYPOSPADIAS SYNDROME

    • TURNER XLID (SEE ALSO AP1S2-ASSOCIATED XLID)

    • URBAN SYNDROME

    • USP9X-RELATED XLID

    • VACTERL-HYDROCEPHALUS SYNDROME

    • VASQUEZ SYNDROME

    • WAISMAN-LAXOVA SYNDROME

    • WARKANY SYNDROME

    • WDR44 CILIOPATHY

    • WIEACKER-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-SEIZURES

    • XLID-BLINDNESS-SEIZURES-SPASTICITY

    • XLID-BRAIN ANOMALIES-ATAXIA

    • 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-HYPEREKPLEXIA-SEIZURES

    • XLID-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 MYOPATHY

    • XLID-MULTIPLE ANOMALIES-EARLY LETHALITY

    • XLID-NAIL DYSTROPHY-SEIZURES

    • XLID-NYSTAGMUS-SEIZURES

    • XLID-PANHYPOPITUITARISM

    • XLID-PIGMENTARY MOSAICISM

    • XLID-PSORIASIS

    • XLID-RETICULATE HYPERPIMENTATION

    • XLID-RETINITIS PIGMENTOSA

    • XLID-RETINOPATHY-SEIZURES

    • XLID-ROLANDIC SEIZURES

    • XLID-SEIZURES-APHASIA

    • XLID-SPASTIC PARAPLEGIA, TYPE 7

    • XLID-SPASTIC PARAPLEGIA-ATHETOSIS

    • XLID-SPONDYLOEPIMETAPHYSEAL DYSPLASIA

    • XLID-TRIGONOCEPHALY

    • X-LINKED OHDO SYNDROME

    • X-LINKED OLIVOPONTOCEREBELLAR ATROPHY

    • YOUNG-HUGHES SYNDROME

    • ZC4H2-ASSOCIATED XLID

    • ZFP92-RELATED XLID

    • ZFX-RELATED XLID

    • ZMYM3-RELATED XLID

    • 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 PREDOMINANTLY AFFECTING FEMALES

    • XIV. DUPLICATION OF XLID GENES AND REGIONS OF THE X-CHROMOSOME GENOME

    • XV. X-INACTIVATION

    • XVI A. Xp SYNDROMAL XLID GENES

    • XVI B. Xq SYNDROMAL XLID GENES

    • XVI C. SYNDROMAL XLID GENES

    • XVII. SYNDROMAL XLID (LINKAGE LIMITS)

    • XVIII. NONSYNDROMAL XLID FAMILIES (LINKAGE LIMITS)

    • XIX. NONSYNDROMAL XLID FAMILIES

    • XX. X-LINKED DISORDERS WITH INTELLECTUAL DISABILITY AND AUTISM

    • INDEX