Names of Genes on Chromosome XY

Gene Location Syndrome Category
ALAS2p11.21X-linked sideroblastic anemiaTachycardia (>100 beats/minute)
FAAH2p11.21FATTY ACID AMIDE HYDROLASE 2Autism spectrum
FGD1p11.21Aarskog-Scott syndromeCleft lip / cleft palate
UBQLN2p11.21ALSALS - amyotrophic lateral sclerosis
SMC1Ap11.21-22Cornelia de Lange SyndromeAutism spectrum
CGF1p11.22Perrault syndromeAtaxia spectrum
HSD17B10p11.22HSD10 diseaseEpilepsy and seizures
IQSEC2p11.22Mental retardation X-linked 1Autism spectrum
KDM5Cp11.22LYSINE-SPECIFIC DEMETHYLASE 5CAutism spectrum
MRX1p11.22Mental retardation X-linked 1Autism spectrum
MRXSCJp11.22MENTAL RETARDATION X-LINKED SYNDROMIC CLAES-JENSEN TYPEAutism spectrum
MRXSTp11.22MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPEAutism spectrum
PHF8p11.22Siderius-Hamel syndromeCleft lip / cleft palate
SDSXp11.22STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROMEAutism spectrum
SMC1Ap11.22Microcephaly - otherMicrocephaly
MRXSSDp11.22SIDERIUS X-LINKED MENTAL RETARDATION SYNDROMEAutism spectrum
CACNA1Fp11.23cone-rod dystrophyPhotophobia - sensitivity to light
CCDC22p11.23Ritscher-Schinzel syndrome 2 (RTSC2)Copper metabolism defects
FOXP3p11.23Type 1 DiabetesDiabetes
FOXP3p11.23IPEX immune dysregulation polyendocrinopathy enteropathy X-linked syndromeHyperthyroidism
MRX9p11.23MENTAL RETARDATION X-LINKED 9Autism spectrum
PORCNp11.23Focal dermal hypoplasiaCleft lip / cleft palate
PQBP1p11.23Renpenning syndromeMicrocephaly
RENS1p11.23RENPENNING SYNDROME 1Autism spectrum
WDR45p11.23Rett SyndromeAutism spectrum
WDR45p11.23beta-propeller protein-associated neurodegenerationEpilepsy and seizures
WDR45p11.23Beta-propeller protein-associated neurodegenerationAtaxia spectrum
BRNRSp11.3BRUNNER SYNDROMEAutism spectrum
CXORF36p11.3CHROMOSOME X OPEN READING FRAME 36Autism spectrum
KDM6Ap11.3Microcephaly - otherMicrocephaly
KDM6Ap11.3Kabuki syndromeAsthma
MAOAp11.3Monoamine oxidase A deficiencyAutism spectrum
NDPp11.3Familial exudative vitreoretinopathyCataracts
SYN1p11.3EPILEPSY X_LINKED WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERSAutism spectrum
UBA1p11.3Arthrogryposis - otherArthrogryposis spectrum
BCORp11.4Oculofaciocardiodental (OFCD) syndromeCataracts
CASKp11.4CASK-related intellectual disabilityMicrocephaly
DDX3Xp11.4Mental retardation X-linked 94 (MRX94)Autism spectrum
MRX102p11.4MENTAL RETARDATION X-LINKED 102Autism spectrum
MRXS99Fp11.4MENTAL RETARDATION X-LINKED 99 SYNDROMIC FEMALE-RESTRICTEDAutism spectrum
TSPAN7p11.4Huntington`s diseaseHuntington`s disease spectrum
DMDp21.1Cerebral palsy - unassignedCerebral palsy
FAM47Ap21.1Autism 18 (AUTS18)Autism spectrum
IL1RAPL1P21.2-3INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1Autism spectrum
MRX21P21.2-3MENTAL RETARDATION X-LINKED 21Autism spectrum
ARXp21.3Partington syndromeAutism spectrum
EIEE1p21.3EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 1Autism spectrum
MID1p22Opitz G/BBB syndromeCleft lip / cleft palate
OFD1p22Oral-facial-digital syndromeCleft lip / cleft palate
PIGAp22.1Paroxysmal nocturnal hemoglobinuriaTachycardia (>100 beats/minute)
SMSp22.1Snyder-Robinson syndromeCleft lip / cleft palate
RPS6KA3p22.1-.2Coffin-Lowry syndromeMicrocephaly
AUTSX4p22.11AUTISM - X-LINKEDAutism spectrum
MEHMOp22.11MEHMO SYNDROMEAutism spectrum
PTCHD1p22.11Autism X-linked 4 (AUTSX4)Autism spectrum
MBTPS2p22.12IFAP syndromePhotophobia - sensitivity to light
MRXSHGp22.12MENTAL RETARDATION X-LINKED SYNDROMIC HOUGE TYPEAutism spectrum
PDHA1p22.12Pyruvate dehydrogenase deficiencyAtaxia spectrum
CDKL5p22.13CDKL5 deficiency disorderEpilepsy and seizures
EIEE2p22.13EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 2Autism spectrum
FANCBp22.2Microcephaly - otherMicrocephaly
GPR143p22.2Ocular albinism type 1Photophobia - sensitivity to light
GRPRp22.2GASTRIN-RELEASING PEPTIDE RECEPTORAutism spectrum
MRX104p22.2MENTAL RETARDATION X-LINKED 104Autism spectrum
MRX73p22.2MENTAL RETARDATION X-LINKED 73Autism spectrum
MRXSRCp22.2RAYNAUD-CLAES SYNDROMEAutism spectrum
NHSp22.2Nance-Horan syndromeAutism spectrum
NHSp22.2Cataract 40 (CTRCT40)Cataracts
NLGN4P22.31-2NEUROLIGIN 4Autism spectrum
ANOS1p22.32Kallmann syndrome types 1 and 2Cleft lip / cleft palate
NLGN4Xp22.32Asperger X-linked 2 (APGX2)Asperger`s
ASPGX2p22.32-p22ASPERGER SYNDROME - X-LINKEDAutism spectrum
AUTSX2p22.32-p22AUTISM - X-LINKEDAutism spectrum
NLGN4Xp22.33Autism X-linked 2 (AUTSX2)Autism spectrum
ARHGEF9q11.1hereditary hyperekplexiaEpilepsy and seizures
ZC4H2q11.2Wieacker-Wolf syndromeArthrogryposis spectrum
ARq12Androgenetic alopeciaAlopecia
OPHN1q12MENTAL RETARDATION X-LINKED WITH CEREBELLAR HYPOPLASIAAutism spectrum
HDAC8q13Cornelia de Lange SyndromeAutism spectrum
MED12q13Lujan SyndromeAutism spectrum
OGTq13Alzheimer - late onsetAlzheimer Syndrome
ASPGX1q13.1ASPERGER SYNDROME - X-LINKEDAutism spectrum
AUTSX1q13.1AUTISM - X-LINKEDAutism spectrum
HDAC8q13.1Microcephaly - otherMicrocephaly
MRXS33q13.1MENTAL RETARDATION X-LINKED SYNDROMIC 33Autism spectrum
MRXS34q13.1MENTAL RETARDATION X-LINKED SYNDROMIC 34Autism spectrum
NLGN3q13.1Autism X-linked 1 (AUTSX1)Autism spectrum
NLGN3q13.1Asperger X-linked 1 (APGX1)Asperger`s
SLC16A2q13.2Allan-Herndon-Dudley syndromeHypothyroidism
TOKASq13.2TONNE-KALSCHEUER SYNDROMEAutism spectrum
ABCB7q13.3X-linked sideroblastic anemia and ataxiaAtaxia spectrum
KIAA2022q13.3Mental retardation X-linked 94 (MRX94)Autism spectrum
MRX98q13.3MENTAL RETARDATION X-LINKED 98Autism spectrum
NEXMIFq13.3NEURITE EXTENSION AND MIGRATION FACTORAutism spectrum
PGK1q13.3Phosphoglycerate kinase deficiencyTachycardia (>100 beats/minute)
PARK12q21-25Parkinson disease x-linkedParkinsonism
ATP7Aq21.1Menkes syndrome.Copper metabolism defects
ATRXq21.1Microcephaly - otherMicrocephaly
MRX97q21.1MENTAL RETARDATION X-LINKED 97Autism spectrum
ATRXq21.1 - alMicrocephaly - otherMicrocephaly
PCDH11Xq21.31Autism 18 (AUTS18)Autism spectrum
EIEE9q22.1EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 9Autism spectrum
HNRNPH2q22.1Mental retardation X-linked syndromic Bain typeAutism spectrum
MRXSBq22.1MENTAL RETARDATION X-LINKED SYNDROMIC BAIN TYPEAutism spectrum
PCDH19q22.1Epileptic encephalopathy early infantile 9 (EIEE9)Autism spectrum
SRPX2q22.1Rolandic epilepsy with speech dyspraxia and mental retardation X-linkedEpilepsy and seizures
TIMM8q22.1Deafness-dystonia-optic neuronopathy syndromeAtaxia spectrum
KPTSq22.2KEIPERT SYNDROMEAutism spectrum
PLP1q22.2Pelizaeus-Merzbacher diseaseAtaxia spectrum
PRPS1q22.3Arts syndromeAtaxia spectrum
SERPINA7q22.3Inherited thyroxine-binding globulin deficiencyHypothyroidism
AGTR2q23ANGIOTENSIN II RECEPTOR TYPE 2Autism spectrum
DCXq23Microcephaly - otherMicrocephaly
MRX63q23MENTAL RETARDATION X-LINKED 63Autism spectrum
TRPC5q23TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL SUBFAMILY C MEMBER 5Autism spectrum
GLUD2q24Parkinson disease susceptabilityParkinsonism
MRX88q24MENTAL RETARDATION X-LINKED 88Autism spectrum
MRXS14q24MENTAL RETARDATION X-LINKED SYNDROMIC 14Autism spectrum
UPF3Bq24Mental retardation X-linked syndromic 14 (MRXS14)Autism spectrum
MRX82q24-q25MENTAL RETARDATION X-LINKED 82Autism spectrum
GRIA3q25Mental retardation X-linked 94 (MRX94)Autism spectrum
MRXSWq25MENTAL RETARDATION X-LINKED SYNDROMIC WU TYPEAutism spectrum
PHF6q26.2Boerjeson-Forssman-Lehmann syndromeEpilepsy and seizures
MRXSCHq26.3MENTAL RETARDATION X-LINKED SYNDROMIC CHRISTIANSON TYPEAutism spectrum
SLC9A6q26.3Christianson syndromeMicrocephaly
ZIC3q26.3heterotaxy syndromeHeterotaxy
FMR1q27.3Fragile X syndromeAutism spectrum
FXSq27.3Fragile X syndromeAutism spectrum
FXTASq27.3FRAGILE X TREMOR/ATAXIA SYNDROMEAutism spectrum
AFF2q28Fragile XE syndromeAutism spectrum
ALDq28ADRENOLEUKODYSTROPHYAutism spectrum
AUTSX3q28AUTISM - X-LINKEDAutism spectrum
AUTSX5q28AUTISM - X-LINKEDAutism spectrum
AUTSX6q28AUTISM - X-LINKEDAutism spectrum
AVPR2q28Nephrogenic diabetes insipidusDiabetes
CCDS1q28CEREBRAL CREATINE DEFICIENCY SYNDROME 1Autism spectrum
EMDq28Emery-Dreifuss muscular dystrophyBradycardia (<60 beats/minute)
FLNAq28Periventricular heterotopiaMicrocephaly
FRAXEq28MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITEAutism spectrum
G6PDq28Glucose-6-phosphate dehydrogenase deficiencyTachycardia (>100 beats/minute)
HCFC1q28Microcephaly - otherMicrocephaly
HCFC1q28methylmalonic acidemia with homocystinuriaVitamin B12 metabolism spectrum
IKBKGq28Incontinentia pigmentiAlopecia
IRAK1q28Rheumatoid arthritisArthritis
MCOPS1q28MICROPHTHALMIA SYNDROMIC 1Autism spectrum
MECP2q28Rett SyndromeAutism spectrum
MRX72q28MENTAL RETARDATION X-LINKED 72Autism spectrum
MRXS13q28MENTAL RETARDATION X-LINKED SYNDROMIC 13Autism spectrum
MRXSLq28LUBS X-LINKED MENTAL RETARDATION SYNDROMEAutism spectrum
OGDNSq28OGDEN SYNDROMEAutism spectrum
OPN1LWq28Color vision deficiencyPhotophobia - sensitivity to light
OPN1MWq28Color vision deficiencyPhotophobia - sensitivity to light
RAB39Bq28Waisman syndromeAutism spectrum
RPL10q28Autism X-linked 5 (AUTSX5)Autism spectrum
RTTq28Rett SyndromeAutism spectrum
SLC6A8q28X-linked creatine deficiencyMicrocephaly
TMLHEq28Epsilon-trimethyllysine hydroxylase deficiencyAutism spectrum
MECP2q28.1Microcephaly - otherMicrocephaly
All X YX and Y48 XXYYAutism spectrum
extra YY47 XYYAutism spectrum


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