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.