| Gene |
Location |
Syndrome |
Category |
| NAGA | q11 | Schindler`s disease | Autism spectrum | |
| UPB1 | q11.2 | Beta-ureidopropionase deficiency | Microcephaly | |
| ARVCF | q11.21 | ARMADILLO REPEAT GENE DELETED IN VCFS | Autism spectrum | |
| COMT | q11.21 | DiGeorge 22q11.2 deletion syndrome | Autism spectrum | |
| DGS | q11.21 | DIGEORGE SYNDROME | Autism spectrum | |
| LZTR1 | q11.21 | Noonan syndrome | Autism spectrum | |
| SCARF2 | q11.21 | Van den Ende-Gupta syndrome | Cleft lip / cleft palate | |
| SLC25A1 | q11.21 | 2-hydroxyglutaric aciduria | Ataxia spectrum | |
| TBX1 | q11.21 | DiGeorge 22q11.2 deletion syndrome | Autism spectrum | |
| TXNRD2 | q11.21 | THIOREDOXIN REDUCTASE 2 | Autism spectrum | |
| HYRPRO1 | q11.21 | HYPERPROLINEMIA TYPE I | Autism spectrum | |
| TOP3B | q11.22 | TOPOISOMERASE DNA III BETA | Autism spectrum | |
| BCR | q11.23 | Acute lymphoblastic leukemia | Leukemia | |
| CHCHD10 | q11.23 | ALS | ALS - amyotrophic lateral sclerosis | |
| CRYBB2 | q11.23 | Cataract 03 multiple types (CTRCT3) | Cataracts | |
| CRYBB3 | q11.23 | Cataract 22 multiple types (CTRCT22) | Cataracts | |
| GSTTP2 | q11.23 | Autism 18 (AUTS18) | Autism spectrum | |
| SMARCB1 | q11.23 | Microcephaly - other | Microcephaly | |
| SPECC1L | q11.23 | Opitz G/BBB syndrome | Cleft lip / cleft palate | |
| TBHS | q11.23 | HYPERTELORISM TEEBI TYPE | Autism spectrum | |
| CHEK2 | q12.1 | Thyroid disorders | Hypothyroidism | |
| HPS4 | q12.1 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| DEPDC5 | q12.2 | Familial focal epilepsy with variable foci | Epilepsy and seizures | |
| NEFH | q12.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| TCN2 | q12.2 | Transcobalamin deficiency | Vitamin B12 metabolism spectrum | |
| FFEVF1 | q12.2-3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 1 | Autism spectrum | |
| DEPDC5 | q12.3 | Epilepsy familial focal with variable foci (FFEVF) | Autism spectrum | |
| FBXO7 | q12.3 | Parkinson disease autosomal recessive | Parkinsonism |
| IL2RB | q12.3 | Rheumatoid arthritis | Arthritis | |
| LARGE1 | q12.3 | Walker-Warburg syndrome | Microphthalmia | |
| MYH9 | q12.3 | MYH9-related disorder | Cataracts | |
| ADSL | q13.1 | Microcephaly - other | Microcephaly | |
| ADSLD | q13.1 | ADENYLOSUCCINASE DEFICIENCY | Autism spectrum | |
| NBIA2B | q13.1 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B | Autism spectrum | |
| PLA2G6 | q13.1 | Parkinson disease autosomal recessive | Parkinsonism |
| SOX10 | q13.1 | SRY-BOX 10 | Autism spectrum | |
| WS2E | q13.1 | WAARDENBURG SYNDROME TYPE 2E | Autism spectrum | |
| TNRC6B | q13.1 | Autism 18 (AUTS18) | Autism spectrum | |
| CYB5R3 | q13.2 | Microcephaly - other | Microcephaly | |
| DDVIBA | q13.2 | DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT | Autism spectrum | |
| EP300 | q13.2 | Rubinstein-Taybi syndrome | Autism spectrum | |
| MKHK2 | q13.2 | MENKE-HENNEKAM SYNDROME 2 | Autism spectrum | |
| RSTS2 | q13.2 | RUBINSTEIN-TAYBI SYNDROME 2 | Autism spectrum | |
| TCF20 | q13.2 | Alacrima Achalasia and Mental Retardation Syndrome | Autism spectrum | |
| ATXN10 | q13.31 | Spinocerebellar ataxia type 10 | Ataxia spectrum | |
| PNPLA3 | q13.31 | Non-alcoholic fatty liver disease | Diabetes | |
| TUBGCP6 | q13.31-.33 | Microcephaly and chorioretinopathy autosomal recessive 1 (MCCRP1) | Microcephaly | |
| ALG12 | q13.33 | Microcephaly - other | Microcephaly | |
| CHKB | q13.33 | Narcolepsy | Sleep disorders | |
| CPT1B | q13.33 | Narcolepsy | Sleep disorders | |
| MLC1 | q13.33 | Megalencephalic leukoencephalopathy with subcortical cysts type 01 | Ataxia spectrum | |
| PHMDS | q13.33 | Phelan-McDermid Syndrome | Autism spectrum | |
| SHANK3 | q13.33 | Phelan-McDermid Syndrome | Autism spectrum | |