Names of Genes - Autism category

Gene Chromosome Location Syndrome
A2ML112p13.31Noonan syndrome
AARS16q22.1Epileptic encephalopathy early infantile 29 (EIEE29)
AB0593694p16.1Autism 18 (AUTS18)
ACADVLD17p13.1ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OF
ACRDYS25q11.2-q12.ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACTB7p22.1Baraitser-Winter syndrome
ACTG117q25.3Baraitser-Winter syndrome
ACTR3BP22p11.1-2Autism 18 (AUTS18)
ADA20q13.12ADENOSINE DEAMINASE
ADAR1q21.3Aicardi-Goutieres Syndrome
ADCL310q24.1CUTIS LAXA AUTOSOMAL DOMINANT 3
ADCY32p23.3Autism 18 (AUTS18)
ADHD116p13ATTENTION DEFICIT-HYPERACTIVITY DISORDER
ADHD217p11ATTENTION DEFICIT-HYPERACTIVITY DISORDER
ADHD36q12ATTENTION DEFICIT-HYPERACTIVITY DISORDER
ADHD45p13ATTENTION DEFICIT-HYPERACTIVITY DISORDER
ADK10q22.2ADENOSINE KINASE
ADNP20q13.13Helsmoortel-van der Aa syndrome
ADSLD22q13.1ADENYLOSUCCINASE DEFICIENCY
AFF14q21.3Fragile XE syndrome
AFF223q28Fragile XE syndrome
AGAP212q14.1 Autism 18 (AUTS18)
AGTR223q23ANGIOTENSIN II RECEPTOR TYPE 2
AHDC11p36.11Xia-Gibbs syndrome
AHI16q23.3ABELSON HELPER INTEGRATION SITE 1
AK3085619q13Autism 18 (AUTS18)
AKT31q43-44Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
ALD23q28ADRENOLEUKODYSTROPHY
ALDH1A315q26.3ALDEHYDE DEHYDROGENASE 1 FAMILY MEMBER A3
ALG1L23q22.1Autism 18 (AUTS18)
All X Y23X and Y48 XXYY
ALX411p11.2Potocki-Shaffer syndrome
AMCN5q35.1ARTHROGRYPOSIS MULTIPLEX CONGENITA NEUROGENIC TYPE
AMRS1p21.2ARTHROGRYPOSIS MENTAL RETARDATIONAND SEIZURES
AMT3p21.31GLYCINE ENCEPHALOPATHY
AN111p13ANIRIDIA 1
AN211p13ANIRIDIA 2
ANK310q21Mental retardation autosomal recessive 37 (MRT37)
ANKRD1116q24.3KBG Syndrome
ANKRD30BP221q11.2Autism 18 (AUTS18)
ARHGAP3211q24.3Jacobsen syndrome
ARID1B6q25.3Coffin-Siris syndrome 1
ARVCF22q11.21ARMADILLO REPEAT GENE DELETED IN VCFS
ARX23p21.3Partington syndrome
AS15q11.2ANGELMAN SYNDROME
ASH1L1q22 Autism 18 (AUTS18)
ASPGX123q13.1ASPERGER SYNDROME - X-LINKED
ASPGX223p22.32-p22ASPERGER SYNDROME - X-LINKED
ASXL318q12.1Bainbridge-Ropers syndrome
ATP10A15q12ATPase CLASS V TYPE 10A
AUTS17q22AUTISM
AUTS107q36AUTISM
AUTS111q41-q42AUTISM
AUTS1221p13-q11AUTISM
AUTS1312q14.2AUTISM
AUTS14A16p11.2AUTS14A - 16p11.2 deletion syndrome
AUTS14B16p11.2AUTS14B replication syndrome
AUTS157q35-q36AUTISM
AUTS163q24AUTISM
AUTS1711q13.3-q13.AUTISM
AUTS1814q11.2AUTISM
AUTS194q23AUTISM
AUTS27q11.22Mental retardation autosomal dominant 26 (MRD26)
AUTS313q14.2-q14.AUTISM
AUTS415q11AUTISM
AUTS617q11AUTISM
AUTS717q21AUTISM
AUTS83q25-q27AUTISM
AUTS97q31AUTISM
AUTSX123q13.1AUTISM - X-LINKED
AUTSX223p22.32-p22AUTISM - X-LINKED
AUTSX323q28AUTISM - X-LINKED
AUTSX423p22.11AUTISM - X-LINKED
AUTSX523q28AUTISM - X-LINKED
AUTSX623q28AUTISM - X-LINKED
BAZ1B7q11.23WILLIAMS-BEUREN REGION DUPLICATION SYNDROME
BBSOAS5q15BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME
BC0428234p16.3Autism 18 (AUTS18)
BC0806059q13Autism 18 (AUTS18)
BCKDK16p11.2Branched-chain ketoacid dehydrogenase kinase deficiency
BCKDKD16p11.2BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
BCL11A2p16.1Intellectual developmental disorder with persistence of fetal hemoglobin
BDNF11p13WAGR Syndrome
BFSP23q22.1Cataract 12 multiple types (CTRCT12)
BPNT11q41-a42Fryn`s Syndrome - 1Q41-Q42 microdeletion
BRAF7q34Noonan syndrome
BRAF7q34Cardiofaciocutaneous syndrome
BRNRS23p11.3BRUNNER SYNDROME
BRPS18q12.1Bainbridge-Ropers syndrome
BTDD5q14.2BRACHYCEPHALY TRICHOMEGALY AND DEVELOPMENTAL DELAY
C12ORF5712p13.31CHROMOSOME 12 OPEN READING FRAME 57
C3ORF583q24CHROMOSOME 3 OPEN READING FRAME 58
CACNA1C12p13.3Timothy Syndrome
CACNA2D33p21.1Autism 18 (AUTS18)
CADPS27q31.32CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2
CAFDADD16p13.3CARDIAC FACIAL AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CAKUTHED1q23.3CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME
CAMK2A5q32CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA
CAMK45q22.1CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV
CAMTA11P36.23-31CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1
CANPMR1p36.23-31CEREBELLAR ATAXIA NONPROGRESSIVE WITH MENTAL RETARDATION
CAPOS19q13.2CEREBELLAR ATAXIA AREFLEXIA PES CAVUS OPTIC ATROPHY AND HEARING LOSS
CBLN116q12.1PRECEREBELLIN 1
CBS21q22.3HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
CCDS123q28CEREBRAL CREATINE DEFICIENCY SYNDROME 1
CCDS219p13.3CEREBRAL CREATINE DEFICIENCY SYNDROME 2
CCDS315q21.1CEREBRAL CREATINE DEFICIENCY SYNDROME 3
CCE118q21.32Hennekam syndrome
CCND212p13.32Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CDG2C11p11.2CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc
CDG2F6q15CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIf
CDH816q21CADHERIN 8
CDKN1B12p13.1CYCLIN-DEPENDENT KINASE INHIBITOR 1B
CDKN1C11p15.4BECKWITH-WIEDEMANN SYNDROME
CDLS15p13.2CORNELIA DE LANGE SYNDROME 1
CEP1041p36.32Joubert syndrome
CEP417q32Joubert syndrome
CHAMP113q34Mental retardation autosomal dominant 40
CHD15q15-21.1Pilarowski-Bjornsson syndrome
CHD215q26.1Epileptic encephalopathy early infantile 24 (EIEE24)
CHD317p13Snijders Blok-Campeau syndrome
CHD814q11.2Autism 18 (AUTS18)
CHDFIDD7p14.1CONGENITAL HEART DEFECTS DYSMORPHIC FACIAL FEATURES
CHRNA715q13.315q13.3 microdeletion syndrome
CIC19q13.2 Autism 18 (AUTS18)
CLASP12q14.3 Autism 18 (AUTS18)
CLK21q22CDC-LIKE KINASE 2
CNOT319q13.42Autism 18 (AUTS18)
CNTN43p26.33p deletion syndrome
CNTNAP27q35Autism with cortical dysplasia-focal epilepsy syndrome
COMT22q11.21DiGeorge 22q11.2 deletion syndrome
CONDBA17q21.31NEURODEGENERATION CHILDHOOD-ONSET WITH BRAIN ATROPHY
CONDSIAS1p34.3NEURODEGENERATION CHILDHOOD-ONSET STRESS-INDUCED
CPEB45q35.2CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 4
CRADD12q21.33-23Mental retardation autosomal recessive 34 (MRT34)
CREBBP16p13.3Rubinstein-Taybi syndrome
CROCC1p36.13Autism 18 (AUTS18)
CRS315q21.3CRANIOSYNOSTOSIS 3
CRS63q24CRANIOSYNOSTOSIS 6
CSS16q25.3Coffin-Siris syndrome 1
CSTLO11p15.5COSTELLO SYNDROME
CTCF16q22.1CCCTC-BINDING FACTOR
CTNNB13p22.1CATENIN BETA-1
CTRCT2116q23.2CATARACT 21 MULTIPLE TYPES
CTTNBP27q31.31CORTACTIN-BINDING PROTEIN 2
CUL32q36.2Pseudohypoaldosteronism type IIE
CUX17q22.1CUT-LIKE HOMEOBOX 1
CUX212q24.11-12CUT-LIKE HOMEOBOX 2
CWS110q23.31COWDEN SYNDROME 1
CXORF3623p11.3CHROMOSOME X OPEN READING FRAME 36
D3S19613q12.2-q13Mobius Syndrome
DBA61p22.1DIAMOND-BLACKFAN ANEMIA 6
DCUN1D13q26.33DCN1 DOMAIN-CONTAINING PROTEIN 1
DDVIBA22q13.2DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT
DDX3X23p11.4Mental retardation X-linked 94 (MRX94)
DEAF111p15.5DEFORMED EPIDERMAL AUTOREGULATORY FACTOR 1 HOMOLOG
DEDDFA7q22.1DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
DEPDC522q12.3Epilepsy familial focal with variable foci (FFEVF)
DESSH10p12.1Desanto-Shinawi syndrome
DGS22q11.21DIGEORGE SYNDROME
DHCR711q13.4Smith-Lemli-Opitz syndrome
DHRS414q11.2Autism 18 (AUTS18)
DHRS4L114q11.2Autism 18 (AUTS18)
DHRS4L214q11.2Autism 18 (AUTS18)
DIDOD6q14.1DEVELOPMENTAL DELAY INTELLECTUAL DISABILITY OBESITY DYSMORPHIC FEATURES
DIP2C10p15.3Autism 18 (AUTS18)
DISP11q41-a42Fryn`s Syndrome - 1Q41-Q42 microdeletion
DLG13q293q29 microdeletion syndrome
DLG33q293q29 microdeletion syndrome
DLX12q31.1DISTAL-LESS HOMEOBOX 1
DLX22q31.1DISTAL-LESS HOMEOBOX 2
DPYD1p22Dihydropyrimidine dehydrogenase deficiency
DPYS8q22Dihydropyrimidinase deficiency
DQ5846694p16.3Autism 18 (AUTS18)
DRD411p15.5ATTENTION DEFICIT-HYPERACTIVITY DISORDER
DRD54p16.1ATTENTION DEFICIT-HYPERACTIVITY DISORDER
DYNC1H114q32.31Mental retardation autosomal dominant 13 (MRD13)
DYRK1A21q22.13Mental retardation autosomal dominant 07 (MRD7)
DYSEIDD11p15.5DYSKINESIA SEIZURES AND INTELLECTUAL DEVELOPMENTAL DISORDER
EBF310q26.3Hypotonia ataxia and delayed development syndrome
EEF1A220q13.33EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-2
EEOC15q26.1EPILEPTIC ENCEPHALOPATHY CHILDHOOD-ONSET
EGR210q21.3EARLY GROWTH RESPONSE 2
EHMT19q34.3Kleefstra sndrome
EIEE123p21.3EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 1
EIEE112q24.3EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 11
EIEE1312q13.13EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 13
EIEE223p22.13EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 2
EIEE245p12EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 24
EIEE2712p13.1EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 27
EIEE3021q22.3EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 30
EIEE3320q13.33EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 33
EIEE4219p13.13EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 42
EIEE4619q13.33EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 46
EIEE473q28-q29EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 47
EIEE541q44EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 54
EIEE567q11.23EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 56
EIEE589q21.33EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 58
EIEE599q22.33EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 59
EIEE62q24.3EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 6
EIEE6614q32.33EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 66
EIEE6712q24.11-12EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 67
EIEE706p24.1EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 70
EIEE923q22.1EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 9
EIF2AK32p11.2Zaki-Gleeson syndrome
EIF4E4q23Eukaryotic translation error syndrome
EIF4EBP210q22.1EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2
EIG159q21.13EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 15
ELP411p13ELONGATOR ACETYLTRANSFERASE COMPLEX SUBUNIT 4
EN27q36.3Autism 18 (AUTS18)
EOMES3p24.1Zaki-Gleeson syndrome
EP30022q13.2Rubinstein-Taybi syndrome
ETS111q23.3Jacobsen syndrome
EXT211p11-12Potocki-Shaffer syndrome
extra Y23Y47 XYY
FAAH223p11.21FATTY ACID AMIDE HYDROLASE 2
FAM47A23p21.1 Autism 18 (AUTS18)
FAM86EP4p16.3Autism 18 (AUTS18)
FAM86FP12p13.31Autism 18 (AUTS18)
FAM86HP3q22.1Autism 18 (AUTS18)
FAM90A112p13.31Autism 18 (AUTS18)
FAP15q22.2FAMILIAL ADENOMATOUS POLYPOSIS 1
FFEVF122Q12.2-3EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 1
FFEVF316p13.3EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 3
FFEVF42q24.3EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 4
FHM21q23.2MIGRAINE FAMILIAL HEMIPLEGIC 2
FLI111q24.1-24.3Jacobsen syndrome
FLJ205183p12.3Autism 18 (AUTS18)
FMR123q27.3Fragile X syndrome
FOXG114q13FOXG1 Syndrome
FOXP13p13Mental retardation with language impairment
FOXP27q31.1FOXP2-related speech and language disorder
FOXP27q31.1FOXP2-related speech and language disorder
FOXP27q31.1FOXP2-related speech and language disorder
FOXP27q31.1FOXP2-related speech and language disorder
FRAXE23q28MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITE
FXS23q27.3Fragile X syndrome
FXTAS23q27.3FRAGILE X TREMOR/ATAXIA SYNDROME
FZD97q11.23WILLIAMS-BEUREN REGION DUPLICATION SYNDROME
GABRA515q12GAMMA-AMINOBUTYRIC ACID RECEPTOR ALPHA-5
GABRB315q12Epilepsy childhood absence 5 (ECA5)
GABRG315q12GAMMA-AMINOBUTYRIC ACID RECEPTOR GAMMA-3
GADEVS14q32.2GABRIELE-DE VRIES SYNDROME
GAMT19p13.3Guanidinoacetate methyltransferase deficiency
GATM15q21.1Arginine glycine amidinotransferase deficiency
GCSH16q23.2GLYCINE ENCEPHALOPATHY
GDNF5p13.2GILLES DE LA TOURETTE SYNDROME
GEFSP916p11.2GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9
GGT8P2p11.1-2Autism 18 (AUTS18)
GIGYF17q22.1Autism 18 (AUTS18)
GLDC9p24.1GLYCINE ENCEPHALOPATHY
GLO16p21.2 GLYOXALASE I
GLOW14q32.13GLOBAL DEVELOPMENTAL DELAY LUNG CYSTS OVERGROWTH WILMS TUMOR
GLYCTK3p21.2D-GLYCERIC ACIDURIA
GPIBD1117q12GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
GPIBD1714q24.1GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
GRIA323q25Mental retardation X-linked 94 (MRX94)
GRIN19q34.3GLUTAMATE RECEPTOR IONOTROPIC N-METHYL-D-ASPARTATE SUBUNIT 1
GRIN2A16p13EPILEPSY FOCAL WITH SPEECH DISORDER
GRIN2B12p13.1Mental retardation autosomal dominant 06 (MRD6)
GRM511q14.2-q14.GLUTAMATE RECEPTOR METABOTROPIC 5
GRPR23p22.2GASTRIN-RELEASING PEPTIDE RECEPTOR
GSTTP222q11.23Autism 18 (AUTS18)
H1911p15.5BECKWITH-WIEDEMANN SYNDROME
HBII-8515p11-13Prader-Willi
HCN15p12Epileptic encephalopathy early infantile 24 (EIEE24)
HDAC42q37.3Brachydactyly-mental retardation syndrome
HDAC823q13Cornelia de Lange Syndrome
HDC15q21.2HISTIDINE DECARBOXYLASE
HECTD412q24.13 Autism 18 (AUTS18)
HERC215q13Prader-Willi
HFM14q32HEMIFACIAL MICROSOMIA
HIES117q21.2HYPER-IgE RECURRENT INFECTION SYNDROME 1 AUTOSOMAL DOMINANT
HLCS21q22.13Holocarboxylase synthetase deficiency
HNRNPH223q22.1Mental retardation X-linked syndromic Bain type
HOMER15q14.1HOMER DROSOPHILA HOMOLOG OF 1
HOMGSMR110q24.32HYPOMAGNESEMIA SEIZURES AND MENTAL RETARDATION 1
HOMGSMR21p13.1HYPOMAGNESEMIA SEIZURES
HOXA17p15.2HOMEOBOX A1 AND MENTAL RETARDATION 2
HPANBH410q21.3HYPERPHENYLALANINEMIA MILD NON-BH4-DEFICIENT
HPMRS11p36.11HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
HSCR213q22.3HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 2
HTR710q23.315-HYDROXYTRYPTAMINE RECEPTOR 7
HYRPRO122q11.21 HYPERPROLINEMIA TYPE I
ICR111p15.5BECKWITH-WIEDEMANN SYNDROME
IDDAS2q24.2INTELLECTUAL DEVELOPMENTAL DISORDER 1
IDDECA15q22.2INTELLECTUAL DEVELOPMENTAL DISORDER 2
IDDFBA2p16.3INTELLECTUAL DEVELOPMENTAL DISORDER 3
IDDFSDA8q21.3INTELLECTUAL DEVELOPMENTAL DISORDER 4
IDDHDF14q32.2INTELLECTUAL DEVELOPMENTAL DISORDER 5
IDDNPF1p36.23INTELLECTUAL DEVELOPMENTAL DISORDER 6
IDDSFTA14q32.2INTELLECTUAL DEVELOPMENTAL DISORDER 7
IECEE14q24EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 1
IFIH12q24.2Aicardi-Goutieres Syndrome
IFNG12q15TUBEROUS SCLEROSIS 2
IL17A6p12.2INTERLEUKIN 17A
IL1RAPL123P21.2-3INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1
INTLQ26p25.3-p22.INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2
IQSEC223p11.22Mental retardation X-linked 1
ITGB317q21.32INTEGRIN BETA-3
JBTS19q34.3JOUBERT SYNDROME 1
JDVS17q23.2JANSEN-DE VRIES SYNDROME
JMJD1C10q21.3JUMONJI DOMAIN-CONTAINING PROTEIN 1C
KATNAL218q21.1Autism 16 with epilepsy (AUTS16)
KCND27q31Potassium gated epilepsy and autism
KCNH514q23.2POTASSIUM CHANNEL VOLTAGE-GATED SUBFAMILY H MEMBER 5
KCNQ1OT111p15.5BECKWITH-WIEDEMANN SYNDROME
KCTD1316p11.2POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13
KCTD31q41POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 3
KDM5B1q32.1Autism 16 with epilepsy (AUTS16)
KDM5C23p11.22LYSINE-SPECIFIC DEMETHYLASE 5C
KDM6B17p13.1 Autism 18 (AUTS18)
KIAA04427q11.22AUTISM - NOT SPECIFIED
KIAA202223q13.3Mental retardation X-linked 94 (MRX94)
KLEFS19q34.3KLEEFSTRA SYNDROME 1
KLEFS27q36.1KLEEFSTRA SYNDROME 2
KMT2A11q23.3Wiedemann-Steiner syndrome
KMT2C7q36.1Autism 18 (AUTS18)
KMT5B11q13.2SHANK2 Deletion Syndrome
KNO121q22.3KNOBLOCH SYNDROME 1
KPTS23q22.2KEIPERT SYNDROME
KRAS12p12.1Noonan syndrome
KRAS12p12.1Cardiofaciocutaneous syndrome
LEO115q21.2LEO1 RNA POLYMERASE II ASSOCIATED FACTOR S. CEREVISIAE HOMOLOG OF
LINC0093712p13.31Autism 18 (AUTS18)
LIS117p13.3LISSENCEPHALY 1
LIS312q13.12LISSENCEPHALY 3
LIS812q21.32LISSENCEPHALY 8
LLS3p21.31LUSCAN-LUMISH SYNDROME
LOC4010743p12.3Autism 18 (AUTS18)
LOC6422369q13Autism 18 (AUTS18)
LOC6543422p11.1-2Autism 18 (AUTS18)
LONRF18p23.1Autism 18 (AUTS18)
LRP22q31.1LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2
LZTR122q11.21Noonan syndrome
MAB21L24q31.3MAB21 C. ELEGANS HOMOLOG-LIKE 2
MACID9p23-p22MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENT
MAE3p25.3MYOCLONIC-ATONIC EPILEPSY
MAGEL215q11.2Prader-Willi
many1p361p36 monosomy
MAOA23p11.3Monoamine oxidase A deficiency
MAP22q34MICROTUBULE-ASSOCIATED PROTEIN 2
MAP2K115q22.31Noonan syndrome
MAP2K115q22.31Cardiofaciocutaneous syndrome
MAP2K219p13.3Noonan syndrome
MAP2K219p13.3Cardiofaciocutaneous syndrome
MARK11q41MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1
MAST119p13.13MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1
MBD118q21.1METHYL-CpG-BINDING DOMAIN PROTEIN 1
MBOAT719q13.42Mental retardation autosomal recessive 57
MBS13q12.2-q13MOEBIUS SYNDROME
MC3DN76p21.31MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7
MCCCHCM19p13.13MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA
MCOP318q21.32MICROPHTHALMIA ISOLATED 3
MCOP815q26.3MICROPHTHALMIA ISOLATED 8
MCOPS123q28MICROPHTHALMIA SYNDROMIC 1
MCPH151p34.2MICROCEPHALY 15 PRIMARY AUTOSOMAL RECESSIVE
MCPH1712q24.23MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVE
MCPH201q32.1MICROCEPHALY 20 PRIMARY AUTOSOMAL RECESSIVE
MCPH2112p13.31MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVE
MCSKS4q31.3MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
MDDGA1012q14.2MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE A 10
MDDGB19q34.13MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE B 1
MDM41q32.1MOUSE DOUBLE MINUTE 4 HOMOLOG
MECP223q28Rett Syndrome
MED1223q13Lujan Syndrome
MED1317q23.2 Autism 18 (AUTS18)
MED13L12q24.21Autism 18 (AUTS18)
MED279q34.13Autism 18 (AUTS18)
MEF2C5q14.3Mental retardation autosomal dominant 20
MEGF819q12Carpenter Syndrome
MEHMO23p22.11MEHMO SYNDROME
MET7q31.2MET PROTOONCOGENE
Mir_5442p11.1-2Autism 18 (AUTS18)
MIR13243p12.3Autism 18 (AUTS18)
MIR3926-18p23.1Autism 18 (AUTS18)
MIR3926-28p23.1Autism 18 (AUTS18)
MIR42733p12.3Autism 18 (AUTS18)
MIR548I24p16.1Autism 18 (AUTS18)
MKHK116p13.3MENKE-HENNEKAM SYNDROME 1
MKHK222q13.2MENKE-HENNEKAM SYNDROME 2
MLC2A11q24.2MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
MLC2B11q24.2MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B
MMYAT1q22MYOPATHY MITOCHONDRIAL AND ATAXIA
MPPH119p13.11MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
MPS3B17q21.2MUCOPOLYSACCHARIDOSIS TYPE IIIB
MRD12q23.1 MENTAL RETARDATION AUTOSOMAL DOMINANT 1
MRD1314q32.31MENTAL RETARDATION AUTOSOMAL DOMINANT 13
MRD205q14.3Mental retardation autosomal dominant 20
MRD2116q22.1MENTAL RETARDATION AUTOSOMAL DOMINANT 21
MRD233p25.3MENTAL RETARDATION AUTOSOMAL DOMINANT 23
MRD2411p15.5MENTAL RETARDATION AUTOSOMAL DOMINANT 24
MRD267q11.22MENTAL RETARDATION AUTOSOMAL DOMINANT 26
MRD2918q12.3MENTAL RETARDATION AUTOSOMAL DOMINANT 29
MRD3010p15.3MENTAL RETARDATION AUTOSOMAL DOMINANT 30
MRD328p11.21MENTAL RETARDATION AUTOSOMAL DOMINANT 32
MRD3820q13.33MENTAL RETARDATION AUTOSOMAL DOMINANT 38
MRD392p25.3MENTAL RETARDATION AUTOSOMAL DOMINANT 39
MRD4013q34Mental retardation autosomal dominant 40
MRD413q26.32MENTAL RETARDATION AUTOSOMAL DOMINANT 41
MRD421p36.33MENTAL RETARDATION AUTOSOMAL DOMINANT 42
MRD436q24.2MENTAL RETARDATION AUTOSOMAL DOMINANT 43
MRD445p15.2Mental retardation autosomal dominant 44
MRD4519q13.2MENTAL RETARDATION AUTOSOMAL DOMINANT 45
MRD473q22.3MENTAL RETARDATION AUTOSOMAL DOMINANT 47
MRD492q36.3Mental retardation autosomal dominant 49
MRD56p21.32 MENTAL RETARDATION AUTOSOMAL DOMINANT 5
MRD504q31.1MENTAL RETARDATION AUTOSOMAL DOMINANT 50
MRD5111q13.2 MENTAL RETARDATION AUTOSOMAL DOMINANT 51
MRD521q22MENTAL RETARDATION AUTOSOMAL DOMINANT 52
MRD535q32MENTAL RETARDATION AUTOSOMAL DOMINANT 53
MRD547p13MENTAL RETARDATION AUTOSOMAL DOMINANT 54
MRD5717q23.2Mental retardation autosomal dominant 57
MRD612p13.1MENTAL RETARDATION AUTOSOMAL DOMINANT 6
MRD721q22.13MENTAL RETARDATION AUTOSOMAL DOMINANT 7
MRFACD12q24.21MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES
MRT138q24.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 13
MRT159q34.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 15
MRT23p26.2MENTAL RETARDATION AUTOSOMAL RECESSIVE 2
MRT2512q13.11-q15MENTAL RETARDATION AUTOSOMAL RECESSIVE 25
MRT294q27-q28.2MENTAL RETARDATION AUTOSOMAL RECESSIVE 29
MRT319p13.12MENTAL RETARDATION AUTOSOMAL RECESSIVE 3
MRT3412q22MENTAL RETARDATION AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALY
MRT3815q13.1MENTAL RETARDATION AUTOSOMAL RECESSIVE 38
MRT4119q13.32MENTAL RETARDATION AUTOSOMAL RECESSIVE 41
MRT4417q25.1MENTAL RETARDATION AUTOSOMAL RECESSIVE 44
MRT55p15.31MENTAL RETARDATION AUTOSOMAL RECESSIVE 5
MRT534p16.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 53
MRT5719q13.42Mental retardation autosomal recessive 57
MRT619p13.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 61
MRT6612p13.32MENTAL RETARDATION AUTOSOMAL RECESSIVE 66
MRT78p22MENTAL RETARDATION AUTOSOMAL RECESSIVE 7
MRT703q25.32INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 70
MRX123p11.22Mental retardation X-linked 1
MRX10223p11.4MENTAL RETARDATION X-LINKED 102
MRX10423p22.2MENTAL RETARDATION X-LINKED 104
MRX2123P21.2-3MENTAL RETARDATION X-LINKED 21
MRX6323q23MENTAL RETARDATION X-LINKED 63
MRX7223q28MENTAL RETARDATION X-LINKED 72
MRX7323p22.2MENTAL RETARDATION X-LINKED 73
MRX8223q24-q25MENTAL RETARDATION X-LINKED 82
MRX8823q24MENTAL RETARDATION X-LINKED 88
MRX923p11.23MENTAL RETARDATION X-LINKED 9
MRX9723q21.1MENTAL RETARDATION X-LINKED 97
MRX9823q13.3MENTAL RETARDATION X-LINKED 98
MRXS1323q28MENTAL RETARDATION X-LINKED SYNDROMIC 13
MRXS1423q24MENTAL RETARDATION X-LINKED SYNDROMIC 14
MRXS3323q13.1MENTAL RETARDATION X-LINKED SYNDROMIC 33
MRXS3423q13.1MENTAL RETARDATION X-LINKED SYNDROMIC 34
MRXS99F23p11.4MENTAL RETARDATION X-LINKED 99 SYNDROMIC FEMALE-RESTRICTED
MRXSB23q22.1MENTAL RETARDATION X-LINKED SYNDROMIC BAIN TYPE
MRXSCH23q26.3MENTAL RETARDATION X-LINKED SYNDROMIC CHRISTIANSON TYPE
MRXSCJ23p11.22MENTAL RETARDATION X-LINKED SYNDROMIC CLAES-JENSEN TYPE
MRXSHG23p22.12MENTAL RETARDATION X-LINKED SYNDROMIC HOUGE TYPE
MRXSL23q28LUBS X-LINKED MENTAL RETARDATION SYNDROME
MRXSRC23p22.2RAYNAUD-CLAES SYNDROME
MRXSSD23p11.22 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
MRXST23p11.22MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPE
MRXSW23q25MENTAL RETARDATION X-LINKED SYNDROMIC WU TYPE
MTOR1p36.22MECHANISTIC TARGET OF RAPAMYCIN
MYO5A15q21.2Griscelli syndrome
MYT1L2p25.3Mental retardation autosomal dominant 37 (MRD37)
NAA154q31.1 Autism 18 (AUTS18)
NAGA22q11Schindler`s disease
NAGLU17q21.2N-ACETYLGLUCOSAMINIDASE ALPHA-
NBEA13q13.3Autism 18 (AUTS18)
NBIA2B22q13.1NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
NCBRS9p24.3NICOLAIDES-BARAITSER SYNDROME
NDHMSD9q34.3NEURODEVELOPMENTAL DISORDER 01
NDHMSR9q34.3NEURODEVELOPMENTAL DISORDER 02
NDHSAL2q32.3NEURODEVELOPMENTAL DISORDER 03
NDPLHS9q22.33NEURODEVELOPMENTAL DISORDER 04
NECFM19p13.13NEURODEVELOPMENTAL DISORDER 05
NEDAMSS14q24.3NEURODEVELOPMENTAL DISORDER 06
NEDBA16p13.3NEURODEVELOPMENTAL DISORDER 07
NEDBEH1p36.23NEURODEVELOPMENTAL DISORDER 08
NEDLBA5q31.1NEURODEVELOPMENTAL DISORDER 09
NEDMAGA5q12.1NEURODEVELOPMENTAL DISORDER 10
NEDMEBA14q21.1NEURODEVELOPMENTAL DISORDER 11
NEDMIAL3p21.31NEURODEVELOPMENTAL DISORDER 12
NEDSDV3p22.1NEURODEVELOPMENTAL DISORDER 13
NEXMIF23q13.3NEURITE EXTENSION AND MIGRATION FACTOR
NHS23p22.2Nance-Horan syndrome
NIPBL5p13.2Cornelia de Lange Syndrome
NLGN13q26.31NEUROLIGIN 1
NLGN323q13.1Autism X-linked 1 (AUTSX1)
NLGN423P22.31-2NEUROLIGIN 4
NLGN4X23p22.33Autism X-linked 2 (AUTSX2)
NLRP519q13.43NLR FAMILY PYRIN DOMAIN-CONTAINING 5
NMLFS8q22.1NABLUS MASK-LIKE FACIAL SYNDROME
NOS112q24.22NITRIC OXIDE SYNTHASE 1
NR1I31q23.3NUCLEAR RECEPTOR SUBFAMILY 1 GROUP I MEMBER 3
NRAS1p13.2Noonan syndrome
NRXN12p16.3Pitt-Hopkins syndrome
NRXN12p16.3Pitt-Hopkins-like syndrome 2
NSMCE315q13.1NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 3 HOMOLOG
NTNG11p13.3NETRIN G1
OBHD9q21.33OBESITY HYPERPHAGIA AND DEVELOPMENTAL DELAY
OCA215q12-13.1Angelman`s Syndrome
OCA215q21.3Prader-Willi
OCNDS20p13OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OGDNS23q28OGDEN SYNDROME
OI1512q13.12OSTEOGENESIS IMPERFECTA TYPE XV
OPHN123q12MENTAL RETARDATION X-LINKED WITH CEREBELLAR HYPOPLASIA
OPRM16q25.2OPIOID RECEPTOR MU-1
OTOP14p16.3Autism 18 (AUTS18)
OTUD7A15q13.3OTU DOMAIN-CONTAINING PROTEIN 7A
PACS111q13.1PACS1 syndrome
PAK23q293q29 microdeletion syndrome
PAK33q293q29 microdeletion syndrome
PARK26q26Autism 18 (AUTS18)
PAX59p13.2Autism 18 (AUTS18)
PAX611p13WAGR Syndrome
PBD9B6q23.3PEROXISOME BIOGENESIS DISORDER 9B
PCDH104q28.3PROTOCADHERIN 10
PCDH11X23q21.31Autism 18 (AUTS18)
PCDH1923q22.1Epileptic encephalopathy early infantile 9 (EIEE9)
PCH113q12.1-2PONTOCEREBELLAR HYPOPLASIA TYPE 11
PER22q37.3Autism 18 (AUTS18)
PGAP211p15.4Mabry syndrome
PHF29q22.31Autism 18 (AUTS18)
PHF21A11p11Potocki-Shaffer syndrome
PHF36q12Autism 18 (AUTS18)
PHIP6q14.1Developmental delay intellectual disability obesity and dysmorphic features
PHMDS22q13.33Phelan-McDermid Syndrome
PIGH14q24.1PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS H PROTEIN
PIGO9p13.3Mabry syndrome
PIGV1p36.11Mabry syndrome
PIK3R219p13.11Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
PILBOS5q15-q21Pilarowski-Bjornsson syndrome
PKS12pPALLISTER-KILLIAN SYNDROME
PKU12q23.2PHENYLKETONURIA
PNPOD17q21.32PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
POGZ1q21.3Mental retardation autosomal dominant 37 (MRD37)
POPCHAS8q22.3POPOV-CHANG SYNDROME
PPP1CB2p23.2Noonan syndrome-like disorder with loose anagen hair 2
PPP2R2C4p16.1PROTEIN PHOSPHATASE 2 REGULATORY SUBUNIT B GAMMA ISOFORM
PPP2R5D6p21.1PPP2R5D-related intellectual disability
PRAMEF131p36.21Autism 18 (AUTS18)
PRAMEF161p36.21Autism 18 (AUTS18)
PRAMEF191p36.21Autism 18 (AUTS18)
PRAMEF201p36.21Autism 18 (AUTS18)
PRAMEF81p36.21Autism 18 (AUTS18)
PRAMEF91p36.21Autism 18 (AUTS18)
PRDM54q27 Autism 18 (AUTS18)
PRIMS3q13.31Primrose syndrome
PSMD1217q24.2Stankiewicz-Isidor syndrome
PTBHS18p11.31PORETTI-BOLTSHAUSER SYNDROME
PTCHD123p22.11Autism X-linked 4 (AUTSX4)
PTEN10q23.31Cowder Syndrome
PTF1A10p12.2Zaki-Gleeson syndrome
PTHSL17q35-q36PITT-HOPKINS-LIKE SYNDROME 1
PTHSL22p16.3Pitt-Hopkins-like syndrome 2
PTLS17p11.2Potocki-Lupski syndrome
PTPN1112q24.13Noonan syndrome
PUF608q24.3POLY-U-BINDING SPLICING FACTOR 60-KD
RAB236p11Carpenter Syndrome
RAB39B23q28Waisman syndrome
RABGAP1L1q25.1Autism 18 (AUTS18)
RAD218q24Cornelia de Lange Syndrome
RAF13p25.2Noonan syndrome
RAI117p11.2Smith-Magenis syndrome
RAI117p11.2Potocki-Lupski syndrome
RAPGEF42q31.1LESCH-NYHAN SYNDROME
RASA23q23Noonan syndrome
RBFOX116p13.3RNA-BINDING PROTEIN FOX1
RELN7q22Lissencephaly with cerebellar hypoplasia (LCH)
RENS123p11.23RENPENNING SYNDROME 1
RERE1p36.23Neurodevelopmental disorder with or without anomalies of the brain eye heart
RIMS16q13Cone-rod dystrophy 7
RIT11q22Noonan syndrome
RNASEH2A19p13.2Aicardi-Goutieres Syndrome
RNASEH2B13q14.3Aicardi-Goutieres Syndrome
RNASEH2C11q13.1Aicardi-Goutieres Syndrome
RNF13517q11.2RING FINGER PROTEIN 135
RORA15q22.2 RAR-RELATED ORPHAN RECEPTOR A
RPL1023q28Autism X-linked 5 (AUTSX5)
RRAS19q13.33Noonan syndrome
RSTS116p13.3RUBINSTEIN-TAYBI SYNDROME 1
RSTS222q13.2RUBINSTEIN-TAYBI SYNDROME 2
RTT23q28Rett Syndrome
RYR315q13.3Autism 18 (AUTS18)
SAMHD120q11.23Aicardi-Goutieres Syndrome
SCAR206q14.3SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 20
SDC28q22.1SYNDECAN 2
SDSX23p11.22STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME
SEMA5A5p15.31 SEMAPHORIN 5A
SEMDFA16q13SPONDYLOEPIMETAPHYSEAL DYSPLASIA FADEN-ALKURAYA TYPE
SETBP118q12.3Schinzel-Giedion syndrome
SETD1A16p11.2SET DOMAIN-CONTAINING PROTEIN 1A
SETD53p25.3Mental retardation autosomal dominant 23 (MRD23)
several2q37Albright hereditary osteodystrophy-like syndrome
SHANK119q13.33SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1
SHANK211q13.2SHANK2 Deletion Syndrome
SHANK322q13.33Phelan-McDermid Syndrome
SHAPNS2p23.3SHASHI-PENA SYNDROME
SHFYNG15q11.2SCHAAF-YANG SYNDROME
SHMS11Q13.1-13.2SCHUURS-HOEIJMAKERS SYNDROME
SHOC210q25.2Noonan syndrome-like disorder with loose anagen hair 1
SIN3A15q24.2Witteveen-kolk syndrome
SKDEAS1Q42.11-12SKRABAN-DEARDORFF SYNDROME
SKS1p36.22SMITH-KINGSMORE SYNDROME
SLC25A122q24Global cerebral hypomyelination
SLC3A12p21CYSTINURIA TYPE A
SLC6A35p15.3Dopamine transmitter deficiency
SLC6A91p34.1GLYCINE ENCEPHALOPATHY
SLC7A919q13.11CYSTINURIA TYPE A
SLC9A11p36.11SOLUTE CARRIER FAMILY 9 MEMBER 1
SLC9A93q24Autism 16 with epilepsy (AUTS16)
SLI313q21SPECIFIC LANGUAGE IMPAIRMENT 3
SLI47q35-q36SPECIFIC LANGUAGE IMPAIRMENT 4
SLI52q36.3SPECIFIC LANGUAGE IMPAIRMENT 5
SLOS11q13.4Smith-Lemli-Opitz syndrome
SMARCC212q13.2Autism 18 (AUTS18)
SMC1A23p11.21-22Cornelia de Lange Syndrome
SMC310q25Cornelia de Lange Syndrome
SNIBCPS17p13.1Snijders Blok-Campeau syndrome
SON21q22.11Zhu-Tokita-Takenouchi-Kim syndrome
SOS12p22.1Noonan syndrome
SOS214q21.3Noonan syndrome
SOTOS219p13.13SOTOS SYNDROME 2
SOTOS319p13.3SOTOS SYNDROME 3
SOX1022q13.1SRY-BOX 10
SPAST2p22.3Spastic paraplegia
SPCH17q31.1SPEECH-LANGUAGE DISORDER 1
SRCAP16p11.12Floating-Harbor syndrome
SRGAP2C1p11.2SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2C
SRMMD11q23.3SHORT STATURE RHIZOMELIC WITH MICROCEPHALY MICROGNATHIA AND DELAY
SRSF111p31.1Autism 18 (AUTS18)
SRXY98q23.146 XY SEX REVERSAL 9
ST77q31.2SUPPRESSOR OF TUMORIGENICITY 7
STISS17q24.2 Stankiewicz-Isidor syndrome
SYN123p11.3EPILEPSY X_LINKED WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
SYN23p25Abnormal presynaptic function disorder
SYNGAP16p21.32Mental retardation autosomal dominant 05 (MRD5)
TAF67q22.1Alazami-Yuan syndrome
TBCK4q24Hypotonia infantile with psychomotor retardation and characteristic facies 3
TBHS22q11.23HYPERTELORISM TEEBI TYPE
TBL1XR13q26.32TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1
TBR12q24.2Autism 18 (AUTS18)
TBX122q11.21DiGeorge 22q11.2 deletion syndrome
TCF1215q21.3TRANSCRIPTION FACTOR 12
TCF2022q13.2Alacrima Achalasia and Mental Retardation Syndrome
TCF418q21.1Pitt-Hopkins syndrome
TCF7L210q25.2-3Diabetes mellitus type 2
TEMTYS12p13.31TEMTAMY SYNDROME
TKS1p36.12TAKENOUCHI-KOSAKI SYNDROME
TLK217q23.2Mental retardation autosomal dominant 57
TMLHE23q28Epsilon-trimethyllysine hydroxylase deficiency
TNK23q29TYROSINE KINASE NONRECEPTOR 2
TNRC6B22q13.1Autism 18 (AUTS18)
TOKAS23q13.2TONNE-KALSCHEUER SYNDROME
TOP120q12TOPOISOMERASE DNA I
TOP2B3p24.2TOPOISOMERASE DNA II BETA
TOP3B22q11.22TOPOISOMERASE DNA III BETA
TPFS17q12TURNPENNY-FRY SYNDROME
TRAF716p13.3TNF RECEPTOR-ASSOCIATED FACTOR 7
TRAPPC6B14q21.1TRAFFICKING PROTEIN PARTICLE COMPLEX SUBUNIT 6B
TREX13p21.31Aicardi-Goutieres Syndrome
TRIO5p15.2Mental retardation autosomal dominant 44
TRIP122q36.3Mental retardation autosomal dominant 49
TRPC523q23TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL SUBFAMILY C MEMBER 5
TRRAP7q22.1TRANSFORMATION/TRANSCRIPTION DOMAIN-ASSOCIATED PROTEIN
TS12p13.33Timothy Syndrome
TSC19q34Tuberous sclerosis complex
TSC216p13.3Tuberous sclerosis complex
TSHZ319q12TSHZ3 haploinsufficiency
TXNRD222q11.21THIOREDOXIN REDUCTASE 2
UBE3A15q11-q13Angelman`s Syndrome
UBN27q34 Autism 18 (AUTS18)
UGT2B154q13.2Autism 18 (AUTS18)
UGT2B174q13.2Autism 18 (AUTS18)
up to 615q13.315q13.3 microdeletion syndrome
UPF3B23q24Mental retardation X-linked syndromic 14 (MRXS14)
UQCC26p21.31Mitochondrial complex III deficiency nuclear 7 (MC3DN7)
VERBRAS3p21.31VERVERI-BRADY SYNDROME
VETD17q23.2VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
VMLDS111p15.4VAN MALDERGEM SYNDROME 1
VRJS8q24.3VERHEIJ SYNDROME
WAC10p12.1Desanto-Shinawi syndrome
WARBM420p13WARBURG MICRO SYNDROME 4
WDFY34q21.23Autism 18 (AUTS18)
WDR4523p11.23Rett Syndrome
WDSTS11q23.3Wiedemann-Steiner syndrome
WFSL4p16.1WOLFRAM-LIKE SYNDROME AUTOSOMAL DOMINANT
WHSUS1q21.3WHITE-SUTTON SYNDROME
WITKOS15q24.2Witteveen-kolk syndrome
WNT27q31.2 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY MEMBER 2
WS2E22q13.1WAARDENBURG SYNDROME TYPE 2E
WT111p13WAGR Syndrome
XPC3p25.1XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP C
YWHAG7q11.23TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE GAMMA
ZBTB203q13.31Primrose syndrome
ZIC13q24ZIC FAMILY MEMBER 1
ZMYND1110p15.3ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 11
ZNF40718q22.3ZINC FINGER PROTEIN 407
ZNF4629q31.2Mental retardation autosomal dominant 40
ZNF7137p11.2Zinc Fingers syndrome
ZNF7173p12.3Autism 18 (AUTS18)
ZSWIM65q12.1ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 6
ZTTKS21q22.11ZTTK SYNDROME


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