| Gene |
Location |
Syndrome |
Category |
| all | p and q | Down syndrome | Trisomies (Down Syndrome) spectrum | |
| AUTS12 | p13-q11 | AUTISM | Autism spectrum | |
| ANKRD30BP2 | q11.2 | Autism 18 (AUTS18) | Autism spectrum | |
| APP | q21.3 | hereditary cerebral amyloid angiopathy | Alzheimer Syndrome | |
| APP | q21.3 | Alzheimer - early onset | Alzheimer Syndrome | |
| DSCAM | q22 | Down syndrome | Trisomies (Down Syndrome) spectrum | |
| SOD1 | q22.1 | Amyotrophic lateral sclerosis (ALS) | Copper metabolism defects | |
| IL10RB | q22.11 | Ulcerative colitis | Irritable Bowel Disorders | |
| SOD1 | q22.11 | ALS | ALS - amyotrophic lateral sclerosis | |
| SON | q22.11 | Zhu-Tokita-Takenouchi-Kim syndrome | Autism spectrum | |
| SYNJ1 | q22.11 | Parkinson disease early onset | Parkinsonism |
| ZTTKS | q22.11 | ZTTK SYNDROME | Autism spectrum | |
| RCAN1 | q22.12 | Alzheimer - late onset | Alzheimer Syndrome | |
| RCAN1 | q22.12 | Rheumatoid arthritis | Arthritis | |
| RUNX1 | q22.12 | Acute myeloid leukemia | Leukemia | |
| RUNX1 | q22.12 | Rheumatoid arthritis | Arthritis | |
| DYRK1A | q22.13 | Mental retardation autosomal dominant 07 (MRD7) | Autism spectrum | |
| HLCS | q22.13 | Holocarboxylase synthetase deficiency with alopecia | Alopecia | |
| HLCS | q22.13 | Holocarboxylase synthetase deficiency | Autism spectrum | |
| MRD7 | q22.13 | MENTAL RETARDATION AUTOSOMAL DOMINANT 7 | Autism spectrum | |
| AIRE | q22.3 | APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy | Alopecia | |
| CBS | q22.3 | HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY | Autism spectrum | |
| CRYAA | q22.3 | Cataract 09 multiple types (CTRCT9) | Cataracts | |
| CTSB | q22.3 | Unverricht-Lundborg disease | Ataxia spectrum | |
| EIEE30 | q22.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 30 | Autism spectrum | |
| KNO1 | q22.3 | KNOBLOCH SYNDROME 1 | Autism spectrum | |
| PCNT | q22.3 | Osteodysplastic primordial dwarfism type II | Microcephaly | |