Gene |
Location |
Syndrome |
Category |
ALAS2 | p11.21 | X-linked sideroblastic anemia | Tachycardia (>100 beats/minute) | |
FAAH2 | p11.21 | FATTY ACID AMIDE HYDROLASE 2 | Autism spectrum | |
FGD1 | p11.21 | Aarskog-Scott syndrome | Cleft lip / cleft palate | |
UBQLN2 | p11.21 | ALS | ALS - amyotrophic lateral sclerosis | |
SMC1A | p11.21-22 | Cornelia de Lange Syndrome | Autism spectrum | |
CGF1 | p11.22 | Perrault syndrome | Ataxia spectrum | |
HSD17B10 | p11.22 | HSD10 disease | Epilepsy and seizures | |
IQSEC2 | p11.22 | Mental retardation X-linked 1 | Autism spectrum | |
KDM5C | p11.22 | LYSINE-SPECIFIC DEMETHYLASE 5C | Autism spectrum | |
MRX1 | p11.22 | Mental retardation X-linked 1 | Autism spectrum | |
MRXSCJ | p11.22 | MENTAL RETARDATION X-LINKED SYNDROMIC CLAES-JENSEN TYPE | Autism spectrum | |
MRXST | p11.22 | MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPE | Autism spectrum | |
PHF8 | p11.22 | Siderius-Hamel syndrome | Cleft lip / cleft palate | |
SDSX | p11.22 | STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME | Autism spectrum | |
SMC1A | p11.22 | Microcephaly - other | Microcephaly | |
MRXSSD | p11.22 | SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME | Autism spectrum | |
CACNA1F | p11.23 | cone-rod dystrophy | Photophobia - sensitivity to light | |
CCDC22 | p11.23 | Ritscher-Schinzel syndrome 2 (RTSC2) | Copper metabolism defects | |
FOXP3 | p11.23 | Type 1 Diabetes | Diabetes | |
FOXP3 | p11.23 | IPEX immune dysregulation polyendocrinopathy enteropathy X-linked syndrome | Hyperthyroidism | |
MRX9 | p11.23 | MENTAL RETARDATION X-LINKED 9 | Autism spectrum | |
PORCN | p11.23 | Focal dermal hypoplasia | Cleft lip / cleft palate | |
PQBP1 | p11.23 | Renpenning syndrome | Microcephaly | |
RENS1 | p11.23 | RENPENNING SYNDROME 1 | Autism spectrum | |
WDR45 | p11.23 | Rett Syndrome | Autism spectrum | |
WDR45 | p11.23 | beta-propeller protein-associated neurodegeneration | Epilepsy and seizures | |
WDR45 | p11.23 | Beta-propeller protein-associated neurodegeneration | Ataxia spectrum | |
BRNRS | p11.3 | BRUNNER SYNDROME | Autism spectrum | |
CXORF36 | p11.3 | CHROMOSOME X OPEN READING FRAME 36 | Autism spectrum | |
KDM6A | p11.3 | Microcephaly - other | Microcephaly | |
KDM6A | p11.3 | Kabuki syndrome | Asthma | |
MAOA | p11.3 | Monoamine oxidase A deficiency | Autism spectrum | |
NDP | p11.3 | Familial exudative vitreoretinopathy | Cataracts | |
SYN1 | p11.3 | EPILEPSY X_LINKED WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS | Autism spectrum | |
UBA1 | p11.3 | Arthrogryposis - other | Arthrogryposis spectrum | |
BCOR | p11.4 | Oculofaciocardiodental (OFCD) syndrome | Cataracts | |
CASK | p11.4 | CASK-related intellectual disability | Microcephaly | |
DDX3X | p11.4 | Mental retardation X-linked 94 (MRX94) | Autism spectrum | |
MRX102 | p11.4 | MENTAL RETARDATION X-LINKED 102 | Autism spectrum | |
MRXS99F | p11.4 | MENTAL RETARDATION X-LINKED 99 SYNDROMIC FEMALE-RESTRICTED | Autism spectrum | |
TSPAN7 | p11.4 | Huntington`s disease | Huntington`s disease spectrum | |
DMD | p21.1 | Cerebral palsy - unassigned | Cerebral palsy | |
FAM47A | p21.1 | Autism 18 (AUTS18) | Autism spectrum | |
IL1RAPL1 | P21.2-3 | INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1 | Autism spectrum | |
MRX21 | P21.2-3 | MENTAL RETARDATION X-LINKED 21 | Autism spectrum | |
ARX | p21.3 | Partington syndrome | Autism spectrum | |
EIEE1 | p21.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 1 | Autism spectrum | |
MID1 | p22 | Opitz G/BBB syndrome | Cleft lip / cleft palate | |
OFD1 | p22 | Oral-facial-digital syndrome | Cleft lip / cleft palate | |
PIGA | p22.1 | Paroxysmal nocturnal hemoglobinuria | Tachycardia (>100 beats/minute) | |
SMS | p22.1 | Snyder-Robinson syndrome | Cleft lip / cleft palate | |
RPS6KA3 | p22.1-.2 | Coffin-Lowry syndrome | Microcephaly | |
AUTSX4 | p22.11 | AUTISM - X-LINKED | Autism spectrum | |
MEHMO | p22.11 | MEHMO SYNDROME | Autism spectrum | |
PTCHD1 | p22.11 | Autism X-linked 4 (AUTSX4) | Autism spectrum | |
MBTPS2 | p22.12 | IFAP syndrome | Photophobia - sensitivity to light | |
MRXSHG | p22.12 | MENTAL RETARDATION X-LINKED SYNDROMIC HOUGE TYPE | Autism spectrum | |
PDHA1 | p22.12 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
CDKL5 | p22.13 | CDKL5 deficiency disorder | Epilepsy and seizures | |
EIEE2 | p22.13 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 2 | Autism spectrum | |
FANCB | p22.2 | Microcephaly - other | Microcephaly | |
GPR143 | p22.2 | Ocular albinism type 1 | Photophobia - sensitivity to light | |
GRPR | p22.2 | GASTRIN-RELEASING PEPTIDE RECEPTOR | Autism spectrum | |
MRX104 | p22.2 | MENTAL RETARDATION X-LINKED 104 | Autism spectrum | |
MRX73 | p22.2 | MENTAL RETARDATION X-LINKED 73 | Autism spectrum | |
MRXSRC | p22.2 | RAYNAUD-CLAES SYNDROME | Autism spectrum | |
NHS | p22.2 | Nance-Horan syndrome | Autism spectrum | |
NHS | p22.2 | Cataract 40 (CTRCT40) | Cataracts | |
NLGN4 | P22.31-2 | NEUROLIGIN 4 | Autism spectrum | |
ANOS1 | p22.32 | Kallmann syndrome types 1 and 2 | Cleft lip / cleft palate | |
NLGN4X | p22.32 | Asperger X-linked 2 (APGX2) | Asperger`s | |
ASPGX2 | p22.32-p22 | ASPERGER SYNDROME - X-LINKED | Autism spectrum | |
AUTSX2 | p22.32-p22 | AUTISM - X-LINKED | Autism spectrum | |
NLGN4X | p22.33 | Autism X-linked 2 (AUTSX2) | Autism spectrum | |
ARHGEF9 | q11.1 | hereditary hyperekplexia | Epilepsy and seizures | |
ZC4H2 | q11.2 | Wieacker-Wolf syndrome | Arthrogryposis spectrum | |
AR | q12 | Androgenetic alopecia | Alopecia | |
OPHN1 | q12 | MENTAL RETARDATION X-LINKED WITH CEREBELLAR HYPOPLASIA | Autism spectrum | |
HDAC8 | q13 | Cornelia de Lange Syndrome | Autism spectrum | |
MED12 | q13 | Lujan Syndrome | Autism spectrum | |
OGT | q13 | Alzheimer - late onset | Alzheimer Syndrome | |
ASPGX1 | q13.1 | ASPERGER SYNDROME - X-LINKED | Autism spectrum | |
AUTSX1 | q13.1 | AUTISM - X-LINKED | Autism spectrum | |
HDAC8 | q13.1 | Microcephaly - other | Microcephaly | |
MRXS33 | q13.1 | MENTAL RETARDATION X-LINKED SYNDROMIC 33 | Autism spectrum | |
MRXS34 | q13.1 | MENTAL RETARDATION X-LINKED SYNDROMIC 34 | Autism spectrum | |
NLGN3 | q13.1 | Autism X-linked 1 (AUTSX1) | Autism spectrum | |
NLGN3 | q13.1 | Asperger X-linked 1 (APGX1) | Asperger`s | |
SLC16A2 | q13.2 | Allan-Herndon-Dudley syndrome | Hypothyroidism | |
TOKAS | q13.2 | TONNE-KALSCHEUER SYNDROME | Autism spectrum | |
ABCB7 | q13.3 | X-linked sideroblastic anemia and ataxia | Ataxia spectrum | |
KIAA2022 | q13.3 | Mental retardation X-linked 94 (MRX94) | Autism spectrum | |
MRX98 | q13.3 | MENTAL RETARDATION X-LINKED 98 | Autism spectrum | |
NEXMIF | q13.3 | NEURITE EXTENSION AND MIGRATION FACTOR | Autism spectrum | |
PGK1 | q13.3 | Phosphoglycerate kinase deficiency | Tachycardia (>100 beats/minute) | |
PARK12 | q21-25 | Parkinson disease x-linked | Parkinsonism |
ATP7A | q21.1 | Menkes syndrome. | Copper metabolism defects | |
ATRX | q21.1 | Microcephaly - other | Microcephaly | |
MRX97 | q21.1 | MENTAL RETARDATION X-LINKED 97 | Autism spectrum | |
ATRX | q21.1 - al | Microcephaly - other | Microcephaly | |
PCDH11X | q21.31 | Autism 18 (AUTS18) | Autism spectrum | |
EIEE9 | q22.1 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 9 | Autism spectrum | |
HNRNPH2 | q22.1 | Mental retardation X-linked syndromic Bain type | Autism spectrum | |
MRXSB | q22.1 | MENTAL RETARDATION X-LINKED SYNDROMIC BAIN TYPE | Autism spectrum | |
PCDH19 | q22.1 | Epileptic encephalopathy early infantile 9 (EIEE9) | Autism spectrum | |
SRPX2 | q22.1 | Rolandic epilepsy with speech dyspraxia and mental retardation X-linked | Epilepsy and seizures | |
TIMM8 | q22.1 | Deafness-dystonia-optic neuronopathy syndrome | Ataxia spectrum | |
KPTS | q22.2 | KEIPERT SYNDROME | Autism spectrum | |
PLP1 | q22.2 | Pelizaeus-Merzbacher disease | Ataxia spectrum | |
PRPS1 | q22.3 | Arts syndrome | Ataxia spectrum | |
SERPINA7 | q22.3 | Inherited thyroxine-binding globulin deficiency | Hypothyroidism | |
AGTR2 | q23 | ANGIOTENSIN II RECEPTOR TYPE 2 | Autism spectrum | |
DCX | q23 | Microcephaly - other | Microcephaly | |
MRX63 | q23 | MENTAL RETARDATION X-LINKED 63 | Autism spectrum | |
TRPC5 | q23 | TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL SUBFAMILY C MEMBER 5 | Autism spectrum | |
GLUD2 | q24 | Parkinson disease susceptability | Parkinsonism |
MRX88 | q24 | MENTAL RETARDATION X-LINKED 88 | Autism spectrum | |
MRXS14 | q24 | MENTAL RETARDATION X-LINKED SYNDROMIC 14 | Autism spectrum | |
UPF3B | q24 | Mental retardation X-linked syndromic 14 (MRXS14) | Autism spectrum | |
MRX82 | q24-q25 | MENTAL RETARDATION X-LINKED 82 | Autism spectrum | |
GRIA3 | q25 | Mental retardation X-linked 94 (MRX94) | Autism spectrum | |
MRXSW | q25 | MENTAL RETARDATION X-LINKED SYNDROMIC WU TYPE | Autism spectrum | |
PHF6 | q26.2 | Boerjeson-Forssman-Lehmann syndrome | Epilepsy and seizures | |
MRXSCH | q26.3 | MENTAL RETARDATION X-LINKED SYNDROMIC CHRISTIANSON TYPE | Autism spectrum | |
SLC9A6 | q26.3 | Christianson syndrome | Microcephaly | |
ZIC3 | q26.3 | heterotaxy syndrome | Heterotaxy | |
FMR1 | q27.3 | Fragile X syndrome | Autism spectrum | |
FXS | q27.3 | Fragile X syndrome | Autism spectrum | |
FXTAS | q27.3 | FRAGILE X TREMOR/ATAXIA SYNDROME | Autism spectrum | |
AFF2 | q28 | Fragile XE syndrome | Autism spectrum | |
ALD | q28 | ADRENOLEUKODYSTROPHY | Autism spectrum | |
AUTSX3 | q28 | AUTISM - X-LINKED | Autism spectrum | |
AUTSX5 | q28 | AUTISM - X-LINKED | Autism spectrum | |
AUTSX6 | q28 | AUTISM - X-LINKED | Autism spectrum | |
AVPR2 | q28 | Nephrogenic diabetes insipidus | Diabetes | |
CCDS1 | q28 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 | Autism spectrum | |
EMD | q28 | Emery-Dreifuss muscular dystrophy | Bradycardia (<60 beats/minute) | |
FLNA | q28 | Periventricular heterotopia | Microcephaly | |
FRAXE | q28 | MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITE | Autism spectrum | |
G6PD | q28 | Glucose-6-phosphate dehydrogenase deficiency | Tachycardia (>100 beats/minute) | |
HCFC1 | q28 | Microcephaly - other | Microcephaly | |
HCFC1 | q28 | methylmalonic acidemia with homocystinuria | Vitamin B12 metabolism spectrum | |
IKBKG | q28 | Incontinentia pigmenti | Alopecia | |
IRAK1 | q28 | Rheumatoid arthritis | Arthritis | |
MCOPS1 | q28 | MICROPHTHALMIA SYNDROMIC 1 | Autism spectrum | |
MECP2 | q28 | Rett Syndrome | Autism spectrum | |
MRX72 | q28 | MENTAL RETARDATION X-LINKED 72 | Autism spectrum | |
MRXS13 | q28 | MENTAL RETARDATION X-LINKED SYNDROMIC 13 | Autism spectrum | |
MRXSL | q28 | LUBS X-LINKED MENTAL RETARDATION SYNDROME | Autism spectrum | |
OGDNS | q28 | OGDEN SYNDROME | Autism spectrum | |
OPN1LW | q28 | Color vision deficiency | Photophobia - sensitivity to light | |
OPN1MW | q28 | Color vision deficiency | Photophobia - sensitivity to light | |
RAB39B | q28 | Waisman syndrome | Autism spectrum | |
RPL10 | q28 | Autism X-linked 5 (AUTSX5) | Autism spectrum | |
RTT | q28 | Rett Syndrome | Autism spectrum | |
SLC6A8 | q28 | X-linked creatine deficiency | Microcephaly | |
TMLHE | q28 | Epsilon-trimethyllysine hydroxylase deficiency | Autism spectrum | |
MECP2 | q28.1 | Microcephaly - other | Microcephaly | |
All X Y | X and Y | 48 XXYY | Autism spectrum | |
extra Y | Y | 47 XYY | Autism spectrum | |