Gene |
Chromosome |
Location |
Syndrome |
A2ML1 | 12 | p13.31 | Noonan syndrome | |
AARS | 16 | q22.1 | Epileptic encephalopathy early infantile 29 (EIEE29) | |
AB059369 | 4 | p16.1 | Autism 18 (AUTS18) | |
ACADVLD | 17 | p13.1 | ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OF | |
ACRDYS2 | 5 | q11.2-q12. | ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | |
ACTB | 7 | p22.1 | Baraitser-Winter syndrome | |
ACTG1 | 17 | q25.3 | Baraitser-Winter syndrome | |
ACTR3BP2 | 2 | p11.1-2 | Autism 18 (AUTS18) | |
ADA | 20 | q13.12 | ADENOSINE DEAMINASE | |
ADAR | 1 | q21.3 | Aicardi-Goutieres Syndrome | |
ADCL3 | 10 | q24.1 | CUTIS LAXA AUTOSOMAL DOMINANT 3 | |
ADCY3 | 2 | p23.3 | Autism 18 (AUTS18) | |
ADHD1 | 16 | p13 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | |
ADHD2 | 17 | p11 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | |
ADHD3 | 6 | q12 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | |
ADHD4 | 5 | p13 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | |
ADK | 10 | q22.2 | ADENOSINE KINASE | |
ADNP | 20 | q13.13 | Helsmoortel-van der Aa syndrome | |
ADSLD | 22 | q13.1 | ADENYLOSUCCINASE DEFICIENCY | |
AFF1 | 4 | q21.3 | Fragile XE syndrome | |
AFF2 | 23 | q28 | Fragile XE syndrome | |
AGAP2 | 12 | q14.1 | Autism 18 (AUTS18) | |
AGTR2 | 23 | q23 | ANGIOTENSIN II RECEPTOR TYPE 2 | |
AHDC1 | 1 | p36.11 | Xia-Gibbs syndrome | |
AHI1 | 6 | q23.3 | ABELSON HELPER INTEGRATION SITE 1 | |
AK308561 | 9 | q13 | Autism 18 (AUTS18) | |
AKT3 | 1 | q43-44 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | |
ALD | 23 | q28 | ADRENOLEUKODYSTROPHY | |
ALDH1A3 | 15 | q26.3 | ALDEHYDE DEHYDROGENASE 1 FAMILY MEMBER A3 | |
ALG1L2 | 3 | q22.1 | Autism 18 (AUTS18) | |
All X Y | 23 | X and Y | 48 XXYY | |
ALX4 | 11 | p11.2 | Potocki-Shaffer syndrome | |
AMCN | 5 | q35.1 | ARTHROGRYPOSIS MULTIPLEX CONGENITA NEUROGENIC TYPE | |
AMRS | 1 | p21.2 | ARTHROGRYPOSIS MENTAL RETARDATIONAND SEIZURES | |
AMT | 3 | p21.31 | GLYCINE ENCEPHALOPATHY | |
AN1 | 11 | p13 | ANIRIDIA 1 | |
AN2 | 11 | p13 | ANIRIDIA 2 | |
ANK3 | 10 | q21 | Mental retardation autosomal recessive 37 (MRT37) | |
ANKRD11 | 16 | q24.3 | KBG Syndrome | |
ANKRD30BP2 | 21 | q11.2 | Autism 18 (AUTS18) | |
ARHGAP32 | 11 | q24.3 | Jacobsen syndrome | |
ARID1B | 6 | q25.3 | Coffin-Siris syndrome 1 | |
ARVCF | 22 | q11.21 | ARMADILLO REPEAT GENE DELETED IN VCFS | |
ARX | 23 | p21.3 | Partington syndrome | |
AS | 15 | q11.2 | ANGELMAN SYNDROME | |
ASH1L | 1 | q22 | Autism 18 (AUTS18) | |
ASPGX1 | 23 | q13.1 | ASPERGER SYNDROME - X-LINKED | |
ASPGX2 | 23 | p22.32-p22 | ASPERGER SYNDROME - X-LINKED | |
ASXL3 | 18 | q12.1 | Bainbridge-Ropers syndrome | |
ATP10A | 15 | q12 | ATPase CLASS V TYPE 10A | |
AUTS1 | 7 | q22 | AUTISM | |
AUTS10 | 7 | q36 | AUTISM | |
AUTS11 | 1 | q41-q42 | AUTISM | |
AUTS12 | 21 | p13-q11 | AUTISM | |
AUTS13 | 12 | q14.2 | AUTISM | |
AUTS14A | 16 | p11.2 | AUTS14A - 16p11.2 deletion syndrome | |
AUTS14B | 16 | p11.2 | AUTS14B replication syndrome | |
AUTS15 | 7 | q35-q36 | AUTISM | |
AUTS16 | 3 | q24 | AUTISM | |
AUTS17 | 11 | q13.3-q13. | AUTISM | |
AUTS18 | 14 | q11.2 | AUTISM | |
AUTS19 | 4 | q23 | AUTISM | |
AUTS2 | 7 | q11.22 | Mental retardation autosomal dominant 26 (MRD26) | |
AUTS3 | 13 | q14.2-q14. | AUTISM | |
AUTS4 | 15 | q11 | AUTISM | |
AUTS6 | 17 | q11 | AUTISM | |
AUTS7 | 17 | q21 | AUTISM | |
AUTS8 | 3 | q25-q27 | AUTISM | |
AUTS9 | 7 | q31 | AUTISM | |
AUTSX1 | 23 | q13.1 | AUTISM - X-LINKED | |
AUTSX2 | 23 | p22.32-p22 | AUTISM - X-LINKED | |
AUTSX3 | 23 | q28 | AUTISM - X-LINKED | |
AUTSX4 | 23 | p22.11 | AUTISM - X-LINKED | |
AUTSX5 | 23 | q28 | AUTISM - X-LINKED | |
AUTSX6 | 23 | q28 | AUTISM - X-LINKED | |
BAZ1B | 7 | q11.23 | WILLIAMS-BEUREN REGION DUPLICATION SYNDROME | |
BBSOAS | 5 | q15 | BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME | |
BC042823 | 4 | p16.3 | Autism 18 (AUTS18) | |
BC080605 | 9 | q13 | Autism 18 (AUTS18) | |
BCKDK | 16 | p11.2 | Branched-chain ketoacid dehydrogenase kinase deficiency | |
BCKDKD | 16 | p11.2 | BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY | |
BCL11A | 2 | p16.1 | Intellectual developmental disorder with persistence of fetal hemoglobin | |
BDNF | 11 | p13 | WAGR Syndrome | |
BFSP2 | 3 | q22.1 | Cataract 12 multiple types (CTRCT12) | |
BPNT1 | 1 | q41-a42 | Fryn`s Syndrome - 1Q41-Q42 microdeletion | |
BRAF | 7 | q34 | Noonan syndrome | |
BRAF | 7 | q34 | Cardiofaciocutaneous syndrome | |
BRNRS | 23 | p11.3 | BRUNNER SYNDROME | |
BRPS | 18 | q12.1 | Bainbridge-Ropers syndrome | |
BTDD | 5 | q14.2 | BRACHYCEPHALY TRICHOMEGALY AND DEVELOPMENTAL DELAY | |
C12ORF57 | 12 | p13.31 | CHROMOSOME 12 OPEN READING FRAME 57 | |
C3ORF58 | 3 | q24 | CHROMOSOME 3 OPEN READING FRAME 58 | |
CACNA1C | 12 | p13.3 | Timothy Syndrome | |
CACNA2D3 | 3 | p21.1 | Autism 18 (AUTS18) | |
CADPS2 | 7 | q31.32 | CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2 | |
CAFDADD | 16 | p13.3 | CARDIAC FACIAL AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY | |
CAKUTHED | 1 | q23.3 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME | |
CAMK2A | 5 | q32 | CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA | |
CAMK4 | 5 | q22.1 | CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV | |
CAMTA1 | 1 | P36.23-31 | CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1 | |
CANPMR | 1 | p36.23-31 | CEREBELLAR ATAXIA NONPROGRESSIVE WITH MENTAL RETARDATION | |
CAPOS | 19 | q13.2 | CEREBELLAR ATAXIA AREFLEXIA PES CAVUS OPTIC ATROPHY AND HEARING LOSS | |
CBLN1 | 16 | q12.1 | PRECEREBELLIN 1 | |
CBS | 21 | q22.3 | HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY | |
CCDS1 | 23 | q28 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 | |
CCDS2 | 19 | p13.3 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | |
CCDS3 | 15 | q21.1 | CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | |
CCE1 | 18 | q21.32 | Hennekam syndrome | |
CCND2 | 12 | p13.32 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | |
CDG2C | 11 | p11.2 | CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc | |
CDG2F | 6 | q15 | CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIf | |
CDH8 | 16 | q21 | CADHERIN 8 | |
CDKN1B | 12 | p13.1 | CYCLIN-DEPENDENT KINASE INHIBITOR 1B | |
CDKN1C | 11 | p15.4 | BECKWITH-WIEDEMANN SYNDROME | |
CDLS1 | 5 | p13.2 | CORNELIA DE LANGE SYNDROME 1 | |
CEP104 | 1 | p36.32 | Joubert syndrome | |
CEP41 | 7 | q32 | Joubert syndrome | |
CHAMP1 | 13 | q34 | Mental retardation autosomal dominant 40 | |
CHD1 | 5 | q15-21.1 | Pilarowski-Bjornsson syndrome | |
CHD2 | 15 | q26.1 | Epileptic encephalopathy early infantile 24 (EIEE24) | |
CHD3 | 17 | p13 | Snijders Blok-Campeau syndrome | |
CHD8 | 14 | q11.2 | Autism 18 (AUTS18) | |
CHDFIDD | 7 | p14.1 | CONGENITAL HEART DEFECTS DYSMORPHIC FACIAL FEATURES | |
CHRNA7 | 15 | q13.3 | 15q13.3 microdeletion syndrome | |
CIC | 19 | q13.2 | Autism 18 (AUTS18) | |
CLASP1 | 2 | q14.3 | Autism 18 (AUTS18) | |
CLK2 | 1 | q22 | CDC-LIKE KINASE 2 | |
CNOT3 | 19 | q13.42 | Autism 18 (AUTS18) | |
CNTN4 | 3 | p26.3 | 3p deletion syndrome | |
CNTNAP2 | 7 | q35 | Autism with cortical dysplasia-focal epilepsy syndrome | |
COMT | 22 | q11.21 | DiGeorge 22q11.2 deletion syndrome | |
CONDBA | 17 | q21.31 | NEURODEGENERATION CHILDHOOD-ONSET WITH BRAIN ATROPHY | |
CONDSIAS | 1 | p34.3 | NEURODEGENERATION CHILDHOOD-ONSET STRESS-INDUCED | |
CPEB4 | 5 | q35.2 | CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 4 | |
CRADD | 12 | q21.33-23 | Mental retardation autosomal recessive 34 (MRT34) | |
CREBBP | 16 | p13.3 | Rubinstein-Taybi syndrome | |
CROCC | 1 | p36.13 | Autism 18 (AUTS18) | |
CRS3 | 15 | q21.3 | CRANIOSYNOSTOSIS 3 | |
CRS6 | 3 | q24 | CRANIOSYNOSTOSIS 6 | |
CSS1 | 6 | q25.3 | Coffin-Siris syndrome 1 | |
CSTLO | 11 | p15.5 | COSTELLO SYNDROME | |
CTCF | 16 | q22.1 | CCCTC-BINDING FACTOR | |
CTNNB1 | 3 | p22.1 | CATENIN BETA-1 | |
CTRCT21 | 16 | q23.2 | CATARACT 21 MULTIPLE TYPES | |
CTTNBP2 | 7 | q31.31 | CORTACTIN-BINDING PROTEIN 2 | |
CUL3 | 2 | q36.2 | Pseudohypoaldosteronism type IIE | |
CUX1 | 7 | q22.1 | CUT-LIKE HOMEOBOX 1 | |
CUX2 | 12 | q24.11-12 | CUT-LIKE HOMEOBOX 2 | |
CWS1 | 10 | q23.31 | COWDEN SYNDROME 1 | |
CXORF36 | 23 | p11.3 | CHROMOSOME X OPEN READING FRAME 36 | |
D3S196 | 13 | q12.2-q13 | Mobius Syndrome | |
DBA6 | 1 | p22.1 | DIAMOND-BLACKFAN ANEMIA 6 | |
DCUN1D1 | 3 | q26.33 | DCN1 DOMAIN-CONTAINING PROTEIN 1 | |
DDVIBA | 22 | q13.2 | DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT | |
DDX3X | 23 | p11.4 | Mental retardation X-linked 94 (MRX94) | |
DEAF1 | 11 | p15.5 | DEFORMED EPIDERMAL AUTOREGULATORY FACTOR 1 HOMOLOG | |
DEDDFA | 7 | q22.1 | DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM | |
DEPDC5 | 22 | q12.3 | Epilepsy familial focal with variable foci (FFEVF) | |
DESSH | 10 | p12.1 | Desanto-Shinawi syndrome | |
DGS | 22 | q11.21 | DIGEORGE SYNDROME | |
DHCR7 | 11 | q13.4 | Smith-Lemli-Opitz syndrome | |
DHRS4 | 14 | q11.2 | Autism 18 (AUTS18) | |
DHRS4L1 | 14 | q11.2 | Autism 18 (AUTS18) | |
DHRS4L2 | 14 | q11.2 | Autism 18 (AUTS18) | |
DIDOD | 6 | q14.1 | DEVELOPMENTAL DELAY INTELLECTUAL DISABILITY OBESITY DYSMORPHIC FEATURES | |
DIP2C | 10 | p15.3 | Autism 18 (AUTS18) | |
DISP1 | 1 | q41-a42 | Fryn`s Syndrome - 1Q41-Q42 microdeletion | |
DLG1 | 3 | q29 | 3q29 microdeletion syndrome | |
DLG3 | 3 | q29 | 3q29 microdeletion syndrome | |
DLX1 | 2 | q31.1 | DISTAL-LESS HOMEOBOX 1 | |
DLX2 | 2 | q31.1 | DISTAL-LESS HOMEOBOX 2 | |
DPYD | 1 | p22 | Dihydropyrimidine dehydrogenase deficiency | |
DPYS | 8 | q22 | Dihydropyrimidinase deficiency | |
DQ584669 | 4 | p16.3 | Autism 18 (AUTS18) | |
DRD4 | 11 | p15.5 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | |
DRD5 | 4 | p16.1 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | |
DYNC1H1 | 14 | q32.31 | Mental retardation autosomal dominant 13 (MRD13) | |
DYRK1A | 21 | q22.13 | Mental retardation autosomal dominant 07 (MRD7) | |
DYSEIDD | 11 | p15.5 | DYSKINESIA SEIZURES AND INTELLECTUAL DEVELOPMENTAL DISORDER | |
EBF3 | 10 | q26.3 | Hypotonia ataxia and delayed development syndrome | |
EEF1A2 | 20 | q13.33 | EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-2 | |
EEOC | 15 | q26.1 | EPILEPTIC ENCEPHALOPATHY CHILDHOOD-ONSET | |
EGR2 | 10 | q21.3 | EARLY GROWTH RESPONSE 2 | |
EHMT1 | 9 | q34.3 | Kleefstra sndrome | |
EIEE1 | 23 | p21.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 1 | |
EIEE11 | 2 | q24.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 11 | |
EIEE13 | 12 | q13.13 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 13 | |
EIEE2 | 23 | p22.13 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 2 | |
EIEE24 | 5 | p12 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 24 | |
EIEE27 | 12 | p13.1 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 27 | |
EIEE30 | 21 | q22.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 30 | |
EIEE33 | 20 | q13.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 33 | |
EIEE42 | 19 | p13.13 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 42 | |
EIEE46 | 19 | q13.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 46 | |
EIEE47 | 3 | q28-q29 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 47 | |
EIEE54 | 1 | q44 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 54 | |
EIEE56 | 7 | q11.23 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 56 | |
EIEE58 | 9 | q21.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 58 | |
EIEE59 | 9 | q22.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 59 | |
EIEE6 | 2 | q24.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 6 | |
EIEE66 | 14 | q32.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 66 | |
EIEE67 | 12 | q24.11-12 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 67 | |
EIEE70 | 6 | p24.1 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 70 | |
EIEE9 | 23 | q22.1 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 9 | |
EIF2AK3 | 2 | p11.2 | Zaki-Gleeson syndrome | |
EIF4E | 4 | q23 | Eukaryotic translation error syndrome | |
EIF4EBP2 | 10 | q22.1 | EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2 | |
EIG15 | 9 | q21.13 | EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 15 | |
ELP4 | 11 | p13 | ELONGATOR ACETYLTRANSFERASE COMPLEX SUBUNIT 4 | |
EN2 | 7 | q36.3 | Autism 18 (AUTS18) | |
EOMES | 3 | p24.1 | Zaki-Gleeson syndrome | |
EP300 | 22 | q13.2 | Rubinstein-Taybi syndrome | |
ETS1 | 11 | q23.3 | Jacobsen syndrome | |
EXT2 | 11 | p11-12 | Potocki-Shaffer syndrome | |
extra Y | 23 | Y | 47 XYY | |
FAAH2 | 23 | p11.21 | FATTY ACID AMIDE HYDROLASE 2 | |
FAM47A | 23 | p21.1 | Autism 18 (AUTS18) | |
FAM86EP | 4 | p16.3 | Autism 18 (AUTS18) | |
FAM86FP | 12 | p13.31 | Autism 18 (AUTS18) | |
FAM86HP | 3 | q22.1 | Autism 18 (AUTS18) | |
FAM90A1 | 12 | p13.31 | Autism 18 (AUTS18) | |
FAP1 | 5 | q22.2 | FAMILIAL ADENOMATOUS POLYPOSIS 1 | |
FFEVF1 | 22 | Q12.2-3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 1 | |
FFEVF3 | 16 | p13.3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 3 | |
FFEVF4 | 2 | q24.3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 4 | |
FHM2 | 1 | q23.2 | MIGRAINE FAMILIAL HEMIPLEGIC 2 | |
FLI1 | 11 | q24.1-24.3 | Jacobsen syndrome | |
FLJ20518 | 3 | p12.3 | Autism 18 (AUTS18) | |
FMR1 | 23 | q27.3 | Fragile X syndrome | |
FOXG1 | 14 | q13 | FOXG1 Syndrome | |
FOXP1 | 3 | p13 | Mental retardation with language impairment | |
FOXP2 | 7 | q31.1 | FOXP2-related speech and language disorder | |
FOXP2 | 7 | q31.1 | FOXP2-related speech and language disorder | |
FOXP2 | 7 | q31.1 | FOXP2-related speech and language disorder | |
FOXP2 | 7 | q31.1 | FOXP2-related speech and language disorder | |
FRAXE | 23 | q28 | MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITE | |
FXS | 23 | q27.3 | Fragile X syndrome | |
FXTAS | 23 | q27.3 | FRAGILE X TREMOR/ATAXIA SYNDROME | |
FZD9 | 7 | q11.23 | WILLIAMS-BEUREN REGION DUPLICATION SYNDROME | |
GABRA5 | 15 | q12 | GAMMA-AMINOBUTYRIC ACID RECEPTOR ALPHA-5 | |
GABRB3 | 15 | q12 | Epilepsy childhood absence 5 (ECA5) | |
GABRG3 | 15 | q12 | GAMMA-AMINOBUTYRIC ACID RECEPTOR GAMMA-3 | |
GADEVS | 14 | q32.2 | GABRIELE-DE VRIES SYNDROME | |
GAMT | 19 | p13.3 | Guanidinoacetate methyltransferase deficiency | |
GATM | 15 | q21.1 | Arginine glycine amidinotransferase deficiency | |
GCSH | 16 | q23.2 | GLYCINE ENCEPHALOPATHY | |
GDNF | 5 | p13.2 | GILLES DE LA TOURETTE SYNDROME | |
GEFSP9 | 16 | p11.2 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9 | |
GGT8P | 2 | p11.1-2 | Autism 18 (AUTS18) | |
GIGYF1 | 7 | q22.1 | Autism 18 (AUTS18) | |
GLDC | 9 | p24.1 | GLYCINE ENCEPHALOPATHY | |
GLO1 | 6 | p21.2 | GLYOXALASE I | |
GLOW | 14 | q32.13 | GLOBAL DEVELOPMENTAL DELAY LUNG CYSTS OVERGROWTH WILMS TUMOR | |
GLYCTK | 3 | p21.2 | D-GLYCERIC ACIDURIA | |
GPIBD11 | 17 | q12 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 | |
GPIBD17 | 14 | q24.1 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 | |
GRIA3 | 23 | q25 | Mental retardation X-linked 94 (MRX94) | |
GRIN1 | 9 | q34.3 | GLUTAMATE RECEPTOR IONOTROPIC N-METHYL-D-ASPARTATE SUBUNIT 1 | |
GRIN2A | 16 | p13 | EPILEPSY FOCAL WITH SPEECH DISORDER | |
GRIN2B | 12 | p13.1 | Mental retardation autosomal dominant 06 (MRD6) | |
GRM5 | 11 | q14.2-q14. | GLUTAMATE RECEPTOR METABOTROPIC 5 | |
GRPR | 23 | p22.2 | GASTRIN-RELEASING PEPTIDE RECEPTOR | |
GSTTP2 | 22 | q11.23 | Autism 18 (AUTS18) | |
H19 | 11 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | |
HBII-85 | 15 | p11-13 | Prader-Willi | |
HCN1 | 5 | p12 | Epileptic encephalopathy early infantile 24 (EIEE24) | |
HDAC4 | 2 | q37.3 | Brachydactyly-mental retardation syndrome | |
HDAC8 | 23 | q13 | Cornelia de Lange Syndrome | |
HDC | 15 | q21.2 | HISTIDINE DECARBOXYLASE | |
HECTD4 | 12 | q24.13 | Autism 18 (AUTS18) | |
HERC2 | 15 | q13 | Prader-Willi | |
HFM | 14 | q32 | HEMIFACIAL MICROSOMIA | |
HIES1 | 17 | q21.2 | HYPER-IgE RECURRENT INFECTION SYNDROME 1 AUTOSOMAL DOMINANT | |
HLCS | 21 | q22.13 | Holocarboxylase synthetase deficiency | |
HNRNPH2 | 23 | q22.1 | Mental retardation X-linked syndromic Bain type | |
HOMER1 | 5 | q14.1 | HOMER DROSOPHILA HOMOLOG OF 1 | |
HOMGSMR1 | 10 | q24.32 | HYPOMAGNESEMIA SEIZURES AND MENTAL RETARDATION 1 | |
HOMGSMR2 | 1 | p13.1 | HYPOMAGNESEMIA SEIZURES | |
HOXA1 | 7 | p15.2 | HOMEOBOX A1 AND MENTAL RETARDATION 2 | |
HPANBH4 | 10 | q21.3 | HYPERPHENYLALANINEMIA MILD NON-BH4-DEFICIENT | |
HPMRS1 | 1 | p36.11 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | |
HSCR2 | 13 | q22.3 | HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 2 | |
HTR7 | 10 | q23.31 | 5-HYDROXYTRYPTAMINE RECEPTOR 7 | |
HYRPRO1 | 22 | q11.21 | HYPERPROLINEMIA TYPE I | |
ICR1 | 11 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | |
IDDAS | 2 | q24.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 1 | |
IDDECA | 15 | q22.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 2 | |
IDDFBA | 2 | p16.3 | INTELLECTUAL DEVELOPMENTAL DISORDER 3 | |
IDDFSDA | 8 | q21.3 | INTELLECTUAL DEVELOPMENTAL DISORDER 4 | |
IDDHDF | 14 | q32.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 5 | |
IDDNPF | 1 | p36.23 | INTELLECTUAL DEVELOPMENTAL DISORDER 6 | |
IDDSFTA | 14 | q32.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 7 | |
IECEE1 | 4 | q24 | EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 1 | |
IFIH1 | 2 | q24.2 | Aicardi-Goutieres Syndrome | |
IFNG | 12 | q15 | TUBEROUS SCLEROSIS 2 | |
IL17A | 6 | p12.2 | INTERLEUKIN 17A | |
IL1RAPL1 | 23 | P21.2-3 | INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1 | |
INTLQ2 | 6 | p25.3-p22. | INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2 | |
IQSEC2 | 23 | p11.22 | Mental retardation X-linked 1 | |
ITGB3 | 17 | q21.32 | INTEGRIN BETA-3 | |
JBTS1 | 9 | q34.3 | JOUBERT SYNDROME 1 | |
JDVS | 17 | q23.2 | JANSEN-DE VRIES SYNDROME | |
JMJD1C | 10 | q21.3 | JUMONJI DOMAIN-CONTAINING PROTEIN 1C | |
KATNAL2 | 18 | q21.1 | Autism 16 with epilepsy (AUTS16) | |
KCND2 | 7 | q31 | Potassium gated epilepsy and autism | |
KCNH5 | 14 | q23.2 | POTASSIUM CHANNEL VOLTAGE-GATED SUBFAMILY H MEMBER 5 | |
KCNQ1OT1 | 11 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | |
KCTD13 | 16 | p11.2 | POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13 | |
KCTD3 | 1 | q41 | POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 3 | |
KDM5B | 1 | q32.1 | Autism 16 with epilepsy (AUTS16) | |
KDM5C | 23 | p11.22 | LYSINE-SPECIFIC DEMETHYLASE 5C | |
KDM6B | 17 | p13.1 | Autism 18 (AUTS18) | |
KIAA0442 | 7 | q11.22 | AUTISM - NOT SPECIFIED | |
KIAA2022 | 23 | q13.3 | Mental retardation X-linked 94 (MRX94) | |
KLEFS1 | 9 | q34.3 | KLEEFSTRA SYNDROME 1 | |
KLEFS2 | 7 | q36.1 | KLEEFSTRA SYNDROME 2 | |
KMT2A | 11 | q23.3 | Wiedemann-Steiner syndrome | |
KMT2C | 7 | q36.1 | Autism 18 (AUTS18) | |
KMT5B | 11 | q13.2 | SHANK2 Deletion Syndrome | |
KNO1 | 21 | q22.3 | KNOBLOCH SYNDROME 1 | |
KPTS | 23 | q22.2 | KEIPERT SYNDROME | |
KRAS | 12 | p12.1 | Noonan syndrome | |
KRAS | 12 | p12.1 | Cardiofaciocutaneous syndrome | |
LEO1 | 15 | q21.2 | LEO1 RNA POLYMERASE II ASSOCIATED FACTOR S. CEREVISIAE HOMOLOG OF | |
LINC00937 | 12 | p13.31 | Autism 18 (AUTS18) | |
LIS1 | 17 | p13.3 | LISSENCEPHALY 1 | |
LIS3 | 12 | q13.12 | LISSENCEPHALY 3 | |
LIS8 | 12 | q21.32 | LISSENCEPHALY 8 | |
LLS | 3 | p21.31 | LUSCAN-LUMISH SYNDROME | |
LOC401074 | 3 | p12.3 | Autism 18 (AUTS18) | |
LOC642236 | 9 | q13 | Autism 18 (AUTS18) | |
LOC654342 | 2 | p11.1-2 | Autism 18 (AUTS18) | |
LONRF1 | 8 | p23.1 | Autism 18 (AUTS18) | |
LRP2 | 2 | q31.1 | LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2 | |
LZTR1 | 22 | q11.21 | Noonan syndrome | |
MAB21L2 | 4 | q31.3 | MAB21 C. ELEGANS HOMOLOG-LIKE 2 | |
MACID | 9 | p23-p22 | MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENT | |
MAE | 3 | p25.3 | MYOCLONIC-ATONIC EPILEPSY | |
MAGEL2 | 15 | q11.2 | Prader-Willi | |
many | 1 | p36 | 1p36 monosomy | |
MAOA | 23 | p11.3 | Monoamine oxidase A deficiency | |
MAP2 | 2 | q34 | MICROTUBULE-ASSOCIATED PROTEIN 2 | |
MAP2K1 | 15 | q22.31 | Noonan syndrome | |
MAP2K1 | 15 | q22.31 | Cardiofaciocutaneous syndrome | |
MAP2K2 | 19 | p13.3 | Noonan syndrome | |
MAP2K2 | 19 | p13.3 | Cardiofaciocutaneous syndrome | |
MARK1 | 1 | q41 | MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1 | |
MAST1 | 19 | p13.13 | MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1 | |
MBD1 | 18 | q21.1 | METHYL-CpG-BINDING DOMAIN PROTEIN 1 | |
MBOAT7 | 19 | q13.42 | Mental retardation autosomal recessive 57 | |
MBS | 13 | q12.2-q13 | MOEBIUS SYNDROME | |
MC3DN7 | 6 | p21.31 | MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7 | |
MCCCHCM | 19 | p13.13 | MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA | |
MCOP3 | 18 | q21.32 | MICROPHTHALMIA ISOLATED 3 | |
MCOP8 | 15 | q26.3 | MICROPHTHALMIA ISOLATED 8 | |
MCOPS1 | 23 | q28 | MICROPHTHALMIA SYNDROMIC 1 | |
MCPH15 | 1 | p34.2 | MICROCEPHALY 15 PRIMARY AUTOSOMAL RECESSIVE | |
MCPH17 | 12 | q24.23 | MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVE | |
MCPH20 | 1 | q32.1 | MICROCEPHALY 20 PRIMARY AUTOSOMAL RECESSIVE | |
MCPH21 | 12 | p13.31 | MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVE | |
MCSKS | 4 | q31.3 | MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME | |
MDDGA10 | 12 | q14.2 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE A 10 | |
MDDGB1 | 9 | q34.13 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE B 1 | |
MDM4 | 1 | q32.1 | MOUSE DOUBLE MINUTE 4 HOMOLOG | |
MECP2 | 23 | q28 | Rett Syndrome | |
MED12 | 23 | q13 | Lujan Syndrome | |
MED13 | 17 | q23.2 | Autism 18 (AUTS18) | |
MED13L | 12 | q24.21 | Autism 18 (AUTS18) | |
MED27 | 9 | q34.13 | Autism 18 (AUTS18) | |
MEF2C | 5 | q14.3 | Mental retardation autosomal dominant 20 | |
MEGF8 | 19 | q12 | Carpenter Syndrome | |
MEHMO | 23 | p22.11 | MEHMO SYNDROME | |
MET | 7 | q31.2 | MET PROTOONCOGENE | |
Mir_544 | 2 | p11.1-2 | Autism 18 (AUTS18) | |
MIR1324 | 3 | p12.3 | Autism 18 (AUTS18) | |
MIR3926-1 | 8 | p23.1 | Autism 18 (AUTS18) | |
MIR3926-2 | 8 | p23.1 | Autism 18 (AUTS18) | |
MIR4273 | 3 | p12.3 | Autism 18 (AUTS18) | |
MIR548I2 | 4 | p16.1 | Autism 18 (AUTS18) | |
MKHK1 | 16 | p13.3 | MENKE-HENNEKAM SYNDROME 1 | |
MKHK2 | 22 | q13.2 | MENKE-HENNEKAM SYNDROME 2 | |
MLC2A | 11 | q24.2 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | |
MLC2B | 11 | q24.2 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B | |
MMYAT | 1 | q22 | MYOPATHY MITOCHONDRIAL AND ATAXIA | |
MPPH1 | 19 | p13.11 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | |
MPS3B | 17 | q21.2 | MUCOPOLYSACCHARIDOSIS TYPE IIIB | |
MRD1 | 2 | q23.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 1 | |
MRD13 | 14 | q32.31 | MENTAL RETARDATION AUTOSOMAL DOMINANT 13 | |
MRD20 | 5 | q14.3 | Mental retardation autosomal dominant 20 | |
MRD21 | 16 | q22.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 21 | |
MRD23 | 3 | p25.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 23 | |
MRD24 | 11 | p15.5 | MENTAL RETARDATION AUTOSOMAL DOMINANT 24 | |
MRD26 | 7 | q11.22 | MENTAL RETARDATION AUTOSOMAL DOMINANT 26 | |
MRD29 | 18 | q12.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 29 | |
MRD30 | 10 | p15.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 30 | |
MRD32 | 8 | p11.21 | MENTAL RETARDATION AUTOSOMAL DOMINANT 32 | |
MRD38 | 20 | q13.33 | MENTAL RETARDATION AUTOSOMAL DOMINANT 38 | |
MRD39 | 2 | p25.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 39 | |
MRD40 | 13 | q34 | Mental retardation autosomal dominant 40 | |
MRD41 | 3 | q26.32 | MENTAL RETARDATION AUTOSOMAL DOMINANT 41 | |
MRD42 | 1 | p36.33 | MENTAL RETARDATION AUTOSOMAL DOMINANT 42 | |
MRD43 | 6 | q24.2 | MENTAL RETARDATION AUTOSOMAL DOMINANT 43 | |
MRD44 | 5 | p15.2 | Mental retardation autosomal dominant 44 | |
MRD45 | 19 | q13.2 | MENTAL RETARDATION AUTOSOMAL DOMINANT 45 | |
MRD47 | 3 | q22.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 47 | |
MRD49 | 2 | q36.3 | Mental retardation autosomal dominant 49 | |
MRD5 | 6 | p21.32 | MENTAL RETARDATION AUTOSOMAL DOMINANT 5 | |
MRD50 | 4 | q31.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 50 | |
MRD51 | 11 | q13.2 | MENTAL RETARDATION AUTOSOMAL DOMINANT 51 | |
MRD52 | 1 | q22 | MENTAL RETARDATION AUTOSOMAL DOMINANT 52 | |
MRD53 | 5 | q32 | MENTAL RETARDATION AUTOSOMAL DOMINANT 53 | |
MRD54 | 7 | p13 | MENTAL RETARDATION AUTOSOMAL DOMINANT 54 | |
MRD57 | 17 | q23.2 | Mental retardation autosomal dominant 57 | |
MRD6 | 12 | p13.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 6 | |
MRD7 | 21 | q22.13 | MENTAL RETARDATION AUTOSOMAL DOMINANT 7 | |
MRFACD | 12 | q24.21 | MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES | |
MRT13 | 8 | q24.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 13 | |
MRT15 | 9 | q34.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 15 | |
MRT2 | 3 | p26.2 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 2 | |
MRT25 | 12 | q13.11-q15 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 25 | |
MRT29 | 4 | q27-q28.2 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 29 | |
MRT3 | 19 | p13.12 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 3 | |
MRT34 | 12 | q22 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALY | |
MRT38 | 15 | q13.1 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 38 | |
MRT41 | 19 | q13.32 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 41 | |
MRT44 | 17 | q25.1 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 44 | |
MRT5 | 5 | p15.31 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 5 | |
MRT53 | 4 | p16.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 53 | |
MRT57 | 19 | q13.42 | Mental retardation autosomal recessive 57 | |
MRT61 | 9 | p13.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 61 | |
MRT66 | 12 | p13.32 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 66 | |
MRT7 | 8 | p22 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 7 | |
MRT70 | 3 | q25.32 | INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 70 | |
MRX1 | 23 | p11.22 | Mental retardation X-linked 1 | |
MRX102 | 23 | p11.4 | MENTAL RETARDATION X-LINKED 102 | |
MRX104 | 23 | p22.2 | MENTAL RETARDATION X-LINKED 104 | |
MRX21 | 23 | P21.2-3 | MENTAL RETARDATION X-LINKED 21 | |
MRX63 | 23 | q23 | MENTAL RETARDATION X-LINKED 63 | |
MRX72 | 23 | q28 | MENTAL RETARDATION X-LINKED 72 | |
MRX73 | 23 | p22.2 | MENTAL RETARDATION X-LINKED 73 | |
MRX82 | 23 | q24-q25 | MENTAL RETARDATION X-LINKED 82 | |
MRX88 | 23 | q24 | MENTAL RETARDATION X-LINKED 88 | |
MRX9 | 23 | p11.23 | MENTAL RETARDATION X-LINKED 9 | |
MRX97 | 23 | q21.1 | MENTAL RETARDATION X-LINKED 97 | |
MRX98 | 23 | q13.3 | MENTAL RETARDATION X-LINKED 98 | |
MRXS13 | 23 | q28 | MENTAL RETARDATION X-LINKED SYNDROMIC 13 | |
MRXS14 | 23 | q24 | MENTAL RETARDATION X-LINKED SYNDROMIC 14 | |
MRXS33 | 23 | q13.1 | MENTAL RETARDATION X-LINKED SYNDROMIC 33 | |
MRXS34 | 23 | q13.1 | MENTAL RETARDATION X-LINKED SYNDROMIC 34 | |
MRXS99F | 23 | p11.4 | MENTAL RETARDATION X-LINKED 99 SYNDROMIC FEMALE-RESTRICTED | |
MRXSB | 23 | q22.1 | MENTAL RETARDATION X-LINKED SYNDROMIC BAIN TYPE | |
MRXSCH | 23 | q26.3 | MENTAL RETARDATION X-LINKED SYNDROMIC CHRISTIANSON TYPE | |
MRXSCJ | 23 | p11.22 | MENTAL RETARDATION X-LINKED SYNDROMIC CLAES-JENSEN TYPE | |
MRXSHG | 23 | p22.12 | MENTAL RETARDATION X-LINKED SYNDROMIC HOUGE TYPE | |
MRXSL | 23 | q28 | LUBS X-LINKED MENTAL RETARDATION SYNDROME | |
MRXSRC | 23 | p22.2 | RAYNAUD-CLAES SYNDROME | |
MRXSSD | 23 | p11.22 | SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME | |
MRXST | 23 | p11.22 | MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPE | |
MRXSW | 23 | q25 | MENTAL RETARDATION X-LINKED SYNDROMIC WU TYPE | |
MTOR | 1 | p36.22 | MECHANISTIC TARGET OF RAPAMYCIN | |
MYO5A | 15 | q21.2 | Griscelli syndrome | |
MYT1L | 2 | p25.3 | Mental retardation autosomal dominant 37 (MRD37) | |
NAA15 | 4 | q31.1 | Autism 18 (AUTS18) | |
NAGA | 22 | q11 | Schindler`s disease | |
NAGLU | 17 | q21.2 | N-ACETYLGLUCOSAMINIDASE ALPHA- | |
NBEA | 13 | q13.3 | Autism 18 (AUTS18) | |
NBIA2B | 22 | q13.1 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B | |
NCBRS | 9 | p24.3 | NICOLAIDES-BARAITSER SYNDROME | |
NDHMSD | 9 | q34.3 | NEURODEVELOPMENTAL DISORDER 01 | |
NDHMSR | 9 | q34.3 | NEURODEVELOPMENTAL DISORDER 02 | |
NDHSAL | 2 | q32.3 | NEURODEVELOPMENTAL DISORDER 03 | |
NDPLHS | 9 | q22.33 | NEURODEVELOPMENTAL DISORDER 04 | |
NECFM | 19 | p13.13 | NEURODEVELOPMENTAL DISORDER 05 | |
NEDAMSS | 14 | q24.3 | NEURODEVELOPMENTAL DISORDER 06 | |
NEDBA | 16 | p13.3 | NEURODEVELOPMENTAL DISORDER 07 | |
NEDBEH | 1 | p36.23 | NEURODEVELOPMENTAL DISORDER 08 | |
NEDLBA | 5 | q31.1 | NEURODEVELOPMENTAL DISORDER 09 | |
NEDMAGA | 5 | q12.1 | NEURODEVELOPMENTAL DISORDER 10 | |
NEDMEBA | 14 | q21.1 | NEURODEVELOPMENTAL DISORDER 11 | |
NEDMIAL | 3 | p21.31 | NEURODEVELOPMENTAL DISORDER 12 | |
NEDSDV | 3 | p22.1 | NEURODEVELOPMENTAL DISORDER 13 | |
NEXMIF | 23 | q13.3 | NEURITE EXTENSION AND MIGRATION FACTOR | |
NHS | 23 | p22.2 | Nance-Horan syndrome | |
NIPBL | 5 | p13.2 | Cornelia de Lange Syndrome | |
NLGN1 | 3 | q26.31 | NEUROLIGIN 1 | |
NLGN3 | 23 | q13.1 | Autism X-linked 1 (AUTSX1) | |
NLGN4 | 23 | P22.31-2 | NEUROLIGIN 4 | |
NLGN4X | 23 | p22.33 | Autism X-linked 2 (AUTSX2) | |
NLRP5 | 19 | q13.43 | NLR FAMILY PYRIN DOMAIN-CONTAINING 5 | |
NMLFS | 8 | q22.1 | NABLUS MASK-LIKE FACIAL SYNDROME | |
NOS1 | 12 | q24.22 | NITRIC OXIDE SYNTHASE 1 | |
NR1I3 | 1 | q23.3 | NUCLEAR RECEPTOR SUBFAMILY 1 GROUP I MEMBER 3 | |
NRAS | 1 | p13.2 | Noonan syndrome | |
NRXN1 | 2 | p16.3 | Pitt-Hopkins syndrome | |
NRXN1 | 2 | p16.3 | Pitt-Hopkins-like syndrome 2 | |
NSMCE3 | 15 | q13.1 | NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 3 HOMOLOG | |
NTNG1 | 1 | p13.3 | NETRIN G1 | |
OBHD | 9 | q21.33 | OBESITY HYPERPHAGIA AND DEVELOPMENTAL DELAY | |
OCA2 | 15 | q12-13.1 | Angelman`s Syndrome | |
OCA2 | 15 | q21.3 | Prader-Willi | |
OCNDS | 20 | p13 | OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME | |
OGDNS | 23 | q28 | OGDEN SYNDROME | |
OI15 | 12 | q13.12 | OSTEOGENESIS IMPERFECTA TYPE XV | |
OPHN1 | 23 | q12 | MENTAL RETARDATION X-LINKED WITH CEREBELLAR HYPOPLASIA | |
OPRM1 | 6 | q25.2 | OPIOID RECEPTOR MU-1 | |
OTOP1 | 4 | p16.3 | Autism 18 (AUTS18) | |
OTUD7A | 15 | q13.3 | OTU DOMAIN-CONTAINING PROTEIN 7A | |
PACS1 | 11 | q13.1 | PACS1 syndrome | |
PAK2 | 3 | q29 | 3q29 microdeletion syndrome | |
PAK3 | 3 | q29 | 3q29 microdeletion syndrome | |
PARK2 | 6 | q26 | Autism 18 (AUTS18) | |
PAX5 | 9 | p13.2 | Autism 18 (AUTS18) | |
PAX6 | 11 | p13 | WAGR Syndrome | |
PBD9B | 6 | q23.3 | PEROXISOME BIOGENESIS DISORDER 9B | |
PCDH10 | 4 | q28.3 | PROTOCADHERIN 10 | |
PCDH11X | 23 | q21.31 | Autism 18 (AUTS18) | |
PCDH19 | 23 | q22.1 | Epileptic encephalopathy early infantile 9 (EIEE9) | |
PCH11 | 3 | q12.1-2 | PONTOCEREBELLAR HYPOPLASIA TYPE 11 | |
PER2 | 2 | q37.3 | Autism 18 (AUTS18) | |
PGAP2 | 11 | p15.4 | Mabry syndrome | |
PHF2 | 9 | q22.31 | Autism 18 (AUTS18) | |
PHF21A | 11 | p11 | Potocki-Shaffer syndrome | |
PHF3 | 6 | q12 | Autism 18 (AUTS18) | |
PHIP | 6 | q14.1 | Developmental delay intellectual disability obesity and dysmorphic features | |
PHMDS | 22 | q13.33 | Phelan-McDermid Syndrome | |
PIGH | 14 | q24.1 | PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS H PROTEIN | |
PIGO | 9 | p13.3 | Mabry syndrome | |
PIGV | 1 | p36.11 | Mabry syndrome | |
PIK3R2 | 19 | p13.11 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | |
PILBOS | 5 | q15-q21 | Pilarowski-Bjornsson syndrome | |
PKS | 12 | p | PALLISTER-KILLIAN SYNDROME | |
PKU | 12 | q23.2 | PHENYLKETONURIA | |
PNPOD | 17 | q21.32 | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | |
POGZ | 1 | q21.3 | Mental retardation autosomal dominant 37 (MRD37) | |
POPCHAS | 8 | q22.3 | POPOV-CHANG SYNDROME | |
PPP1CB | 2 | p23.2 | Noonan syndrome-like disorder with loose anagen hair 2 | |
PPP2R2C | 4 | p16.1 | PROTEIN PHOSPHATASE 2 REGULATORY SUBUNIT B GAMMA ISOFORM | |
PPP2R5D | 6 | p21.1 | PPP2R5D-related intellectual disability | |
PRAMEF13 | 1 | p36.21 | Autism 18 (AUTS18) | |
PRAMEF16 | 1 | p36.21 | Autism 18 (AUTS18) | |
PRAMEF19 | 1 | p36.21 | Autism 18 (AUTS18) | |
PRAMEF20 | 1 | p36.21 | Autism 18 (AUTS18) | |
PRAMEF8 | 1 | p36.21 | Autism 18 (AUTS18) | |
PRAMEF9 | 1 | p36.21 | Autism 18 (AUTS18) | |
PRDM5 | 4 | q27 | Autism 18 (AUTS18) | |
PRIMS | 3 | q13.31 | Primrose syndrome | |
PSMD12 | 17 | q24.2 | Stankiewicz-Isidor syndrome | |
PTBHS | 18 | p11.31 | PORETTI-BOLTSHAUSER SYNDROME | |
PTCHD1 | 23 | p22.11 | Autism X-linked 4 (AUTSX4) | |
PTEN | 10 | q23.31 | Cowder Syndrome | |
PTF1A | 10 | p12.2 | Zaki-Gleeson syndrome | |
PTHSL1 | 7 | q35-q36 | PITT-HOPKINS-LIKE SYNDROME 1 | |
PTHSL2 | 2 | p16.3 | Pitt-Hopkins-like syndrome 2 | |
PTLS | 17 | p11.2 | Potocki-Lupski syndrome | |
PTPN11 | 12 | q24.13 | Noonan syndrome | |
PUF60 | 8 | q24.3 | POLY-U-BINDING SPLICING FACTOR 60-KD | |
RAB23 | 6 | p11 | Carpenter Syndrome | |
RAB39B | 23 | q28 | Waisman syndrome | |
RABGAP1L | 1 | q25.1 | Autism 18 (AUTS18) | |
RAD21 | 8 | q24 | Cornelia de Lange Syndrome | |
RAF1 | 3 | p25.2 | Noonan syndrome | |
RAI1 | 17 | p11.2 | Smith-Magenis syndrome | |
RAI1 | 17 | p11.2 | Potocki-Lupski syndrome | |
RAPGEF4 | 2 | q31.1 | LESCH-NYHAN SYNDROME | |
RASA2 | 3 | q23 | Noonan syndrome | |
RBFOX1 | 16 | p13.3 | RNA-BINDING PROTEIN FOX1 | |
RELN | 7 | q22 | Lissencephaly with cerebellar hypoplasia (LCH) | |
RENS1 | 23 | p11.23 | RENPENNING SYNDROME 1 | |
RERE | 1 | p36.23 | Neurodevelopmental disorder with or without anomalies of the brain eye heart | |
RIMS1 | 6 | q13 | Cone-rod dystrophy 7 | |
RIT1 | 1 | q22 | Noonan syndrome | |
RNASEH2A | 19 | p13.2 | Aicardi-Goutieres Syndrome | |
RNASEH2B | 13 | q14.3 | Aicardi-Goutieres Syndrome | |
RNASEH2C | 11 | q13.1 | Aicardi-Goutieres Syndrome | |
RNF135 | 17 | q11.2 | RING FINGER PROTEIN 135 | |
RORA | 15 | q22.2 | RAR-RELATED ORPHAN RECEPTOR A | |
RPL10 | 23 | q28 | Autism X-linked 5 (AUTSX5) | |
RRAS | 19 | q13.33 | Noonan syndrome | |
RSTS1 | 16 | p13.3 | RUBINSTEIN-TAYBI SYNDROME 1 | |
RSTS2 | 22 | q13.2 | RUBINSTEIN-TAYBI SYNDROME 2 | |
RTT | 23 | q28 | Rett Syndrome | |
RYR3 | 15 | q13.3 | Autism 18 (AUTS18) | |
SAMHD1 | 20 | q11.23 | Aicardi-Goutieres Syndrome | |
SCAR20 | 6 | q14.3 | SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 20 | |
SDC2 | 8 | q22.1 | SYNDECAN 2 | |
SDSX | 23 | p11.22 | STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME | |
SEMA5A | 5 | p15.31 | SEMAPHORIN 5A | |
SEMDFA | 16 | q13 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA FADEN-ALKURAYA TYPE | |
SETBP1 | 18 | q12.3 | Schinzel-Giedion syndrome | |
SETD1A | 16 | p11.2 | SET DOMAIN-CONTAINING PROTEIN 1A | |
SETD5 | 3 | p25.3 | Mental retardation autosomal dominant 23 (MRD23) | |
several | 2 | q37 | Albright hereditary osteodystrophy-like syndrome | |
SHANK1 | 19 | q13.33 | SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1 | |
SHANK2 | 11 | q13.2 | SHANK2 Deletion Syndrome | |
SHANK3 | 22 | q13.33 | Phelan-McDermid Syndrome | |
SHAPNS | 2 | p23.3 | SHASHI-PENA SYNDROME | |
SHFYNG | 15 | q11.2 | SCHAAF-YANG SYNDROME | |
SHMS | 11 | Q13.1-13.2 | SCHUURS-HOEIJMAKERS SYNDROME | |
SHOC2 | 10 | q25.2 | Noonan syndrome-like disorder with loose anagen hair 1 | |
SIN3A | 15 | q24.2 | Witteveen-kolk syndrome | |
SKDEAS | 1 | Q42.11-12 | SKRABAN-DEARDORFF SYNDROME | |
SKS | 1 | p36.22 | SMITH-KINGSMORE SYNDROME | |
SLC25A12 | 2 | q24 | Global cerebral hypomyelination | |
SLC3A1 | 2 | p21 | CYSTINURIA TYPE A | |
SLC6A3 | 5 | p15.3 | Dopamine transmitter deficiency | |
SLC6A9 | 1 | p34.1 | GLYCINE ENCEPHALOPATHY | |
SLC7A9 | 19 | q13.11 | CYSTINURIA TYPE A | |
SLC9A1 | 1 | p36.11 | SOLUTE CARRIER FAMILY 9 MEMBER 1 | |
SLC9A9 | 3 | q24 | Autism 16 with epilepsy (AUTS16) | |
SLI3 | 13 | q21 | SPECIFIC LANGUAGE IMPAIRMENT 3 | |
SLI4 | 7 | q35-q36 | SPECIFIC LANGUAGE IMPAIRMENT 4 | |
SLI5 | 2 | q36.3 | SPECIFIC LANGUAGE IMPAIRMENT 5 | |
SLOS | 11 | q13.4 | Smith-Lemli-Opitz syndrome | |
SMARCC2 | 12 | q13.2 | Autism 18 (AUTS18) | |
SMC1A | 23 | p11.21-22 | Cornelia de Lange Syndrome | |
SMC3 | 10 | q25 | Cornelia de Lange Syndrome | |
SNIBCPS | 17 | p13.1 | Snijders Blok-Campeau syndrome | |
SON | 21 | q22.11 | Zhu-Tokita-Takenouchi-Kim syndrome | |
SOS1 | 2 | p22.1 | Noonan syndrome | |
SOS2 | 14 | q21.3 | Noonan syndrome | |
SOTOS2 | 19 | p13.13 | SOTOS SYNDROME 2 | |
SOTOS3 | 19 | p13.3 | SOTOS SYNDROME 3 | |
SOX10 | 22 | q13.1 | SRY-BOX 10 | |
SPAST | 2 | p22.3 | Spastic paraplegia | |
SPCH1 | 7 | q31.1 | SPEECH-LANGUAGE DISORDER 1 | |
SRCAP | 16 | p11.12 | Floating-Harbor syndrome | |
SRGAP2C | 1 | p11.2 | SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2C | |
SRMMD | 11 | q23.3 | SHORT STATURE RHIZOMELIC WITH MICROCEPHALY MICROGNATHIA AND DELAY | |
SRSF11 | 1 | p31.1 | Autism 18 (AUTS18) | |
SRXY9 | 8 | q23.1 | 46 XY SEX REVERSAL 9 | |
ST7 | 7 | q31.2 | SUPPRESSOR OF TUMORIGENICITY 7 | |
STISS | 17 | q24.2 | Stankiewicz-Isidor syndrome | |
SYN1 | 23 | p11.3 | EPILEPSY X_LINKED WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS | |
SYN2 | 3 | p25 | Abnormal presynaptic function disorder | |
SYNGAP1 | 6 | p21.32 | Mental retardation autosomal dominant 05 (MRD5) | |
TAF6 | 7 | q22.1 | Alazami-Yuan syndrome | |
TBCK | 4 | q24 | Hypotonia infantile with psychomotor retardation and characteristic facies 3 | |
TBHS | 22 | q11.23 | HYPERTELORISM TEEBI TYPE | |
TBL1XR1 | 3 | q26.32 | TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1 | |
TBR1 | 2 | q24.2 | Autism 18 (AUTS18) | |
TBX1 | 22 | q11.21 | DiGeorge 22q11.2 deletion syndrome | |
TCF12 | 15 | q21.3 | TRANSCRIPTION FACTOR 12 | |
TCF20 | 22 | q13.2 | Alacrima Achalasia and Mental Retardation Syndrome | |
TCF4 | 18 | q21.1 | Pitt-Hopkins syndrome | |
TCF7L2 | 10 | q25.2-3 | Diabetes mellitus type 2 | |
TEMTYS | 12 | p13.31 | TEMTAMY SYNDROME | |
TKS | 1 | p36.12 | TAKENOUCHI-KOSAKI SYNDROME | |
TLK2 | 17 | q23.2 | Mental retardation autosomal dominant 57 | |
TMLHE | 23 | q28 | Epsilon-trimethyllysine hydroxylase deficiency | |
TNK2 | 3 | q29 | TYROSINE KINASE NONRECEPTOR 2 | |
TNRC6B | 22 | q13.1 | Autism 18 (AUTS18) | |
TOKAS | 23 | q13.2 | TONNE-KALSCHEUER SYNDROME | |
TOP1 | 20 | q12 | TOPOISOMERASE DNA I | |
TOP2B | 3 | p24.2 | TOPOISOMERASE DNA II BETA | |
TOP3B | 22 | q11.22 | TOPOISOMERASE DNA III BETA | |
TPFS | 17 | q12 | TURNPENNY-FRY SYNDROME | |
TRAF7 | 16 | p13.3 | TNF RECEPTOR-ASSOCIATED FACTOR 7 | |
TRAPPC6B | 14 | q21.1 | TRAFFICKING PROTEIN PARTICLE COMPLEX SUBUNIT 6B | |
TREX1 | 3 | p21.31 | Aicardi-Goutieres Syndrome | |
TRIO | 5 | p15.2 | Mental retardation autosomal dominant 44 | |
TRIP12 | 2 | q36.3 | Mental retardation autosomal dominant 49 | |
TRPC5 | 23 | q23 | TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL SUBFAMILY C MEMBER 5 | |
TRRAP | 7 | q22.1 | TRANSFORMATION/TRANSCRIPTION DOMAIN-ASSOCIATED PROTEIN | |
TS | 12 | p13.33 | Timothy Syndrome | |
TSC1 | 9 | q34 | Tuberous sclerosis complex | |
TSC2 | 16 | p13.3 | Tuberous sclerosis complex | |
TSHZ3 | 19 | q12 | TSHZ3 haploinsufficiency | |
TXNRD2 | 22 | q11.21 | THIOREDOXIN REDUCTASE 2 | |
UBE3A | 15 | q11-q13 | Angelman`s Syndrome | |
UBN2 | 7 | q34 | Autism 18 (AUTS18) | |
UGT2B15 | 4 | q13.2 | Autism 18 (AUTS18) | |
UGT2B17 | 4 | q13.2 | Autism 18 (AUTS18) | |
up to 6 | 15 | q13.3 | 15q13.3 microdeletion syndrome | |
UPF3B | 23 | q24 | Mental retardation X-linked syndromic 14 (MRXS14) | |
UQCC2 | 6 | p21.31 | Mitochondrial complex III deficiency nuclear 7 (MC3DN7) | |
VERBRAS | 3 | p21.31 | VERVERI-BRADY SYNDROME | |
VETD | 17 | q23.2 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | |
VMLDS1 | 11 | p15.4 | VAN MALDERGEM SYNDROME 1 | |
VRJS | 8 | q24.3 | VERHEIJ SYNDROME | |
WAC | 10 | p12.1 | Desanto-Shinawi syndrome | |
WARBM4 | 20 | p13 | WARBURG MICRO SYNDROME 4 | |
WDFY3 | 4 | q21.23 | Autism 18 (AUTS18) | |
WDR45 | 23 | p11.23 | Rett Syndrome | |
WDSTS | 11 | q23.3 | Wiedemann-Steiner syndrome | |
WFSL | 4 | p16.1 | WOLFRAM-LIKE SYNDROME AUTOSOMAL DOMINANT | |
WHSUS | 1 | q21.3 | WHITE-SUTTON SYNDROME | |
WITKOS | 15 | q24.2 | Witteveen-kolk syndrome | |
WNT2 | 7 | q31.2 | WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY MEMBER 2 | |
WS2E | 22 | q13.1 | WAARDENBURG SYNDROME TYPE 2E | |
WT1 | 11 | p13 | WAGR Syndrome | |
XPC | 3 | p25.1 | XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP C | |
YWHAG | 7 | q11.23 | TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE GAMMA | |
ZBTB20 | 3 | q13.31 | Primrose syndrome | |
ZIC1 | 3 | q24 | ZIC FAMILY MEMBER 1 | |
ZMYND11 | 10 | p15.3 | ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 11 | |
ZNF407 | 18 | q22.3 | ZINC FINGER PROTEIN 407 | |
ZNF462 | 9 | q31.2 | Mental retardation autosomal dominant 40 | |
ZNF713 | 7 | p11.2 | Zinc Fingers syndrome | |
ZNF717 | 3 | p12.3 | Autism 18 (AUTS18) | |
ZSWIM6 | 5 | q12.1 | ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 6 | |
ZTTKS | 21 | q22.11 | ZTTK SYNDROME | |