| Gene |
Location |
Syndrome |
Category |
| AFG3L2 | p11.21 | Progressive external ophthalmoplegia | Ataxia spectrum | |
| CIDEA | p11.21 | Type 2 Diabetes | Diabetes | |
| PTPN2 | p11.21 | Ulcerative colitis | Irritable Bowel Disorders | |
| PIEZO2 | p11.22 | Distal arthrogryposis type 3 | Arthrogryposis spectrum | |
| TGIF1 | p11.3 | Nonsyndromic holoprosencephaly | Cleft lip / cleft palate | |
| PTBHS | p11.31 | PORETTI-BOLTSHAUSER SYNDROME | Autism spectrum | |
| TGIF1 | p11.31 | Microcephaly - other | Microcephaly | |
| LAMA3 | q11.2 | JEB Junctional epidermolysis bullosa | Alopecia | |
| NPC1 | q11.2 | Niemann-Pick disease | Ataxia spectrum | |
| IER3IP1 | q12 | Microcephaly epilepsy and diabetes syndrome | Microcephaly | |
| ASXL3 | q12.1 | Thyroid disorders | Hypothyroidism | |
| ASXL3 | q12.1 | Bainbridge-Ropers syndrome | Autism spectrum | |
| BRPS | q12.1 | Bainbridge-Ropers syndrome | Autism spectrum | |
| DSC2 | q12.1 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
| DSG2 | q12.1 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
| DSG4 | q12.1 | Autosomal recessive hypotrichosis | Alopecia | |
| TTR | q12.1 | Transthyretin amyloidosis | Ataxia spectrum | |
| MRD29 | q12.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 29 | Autism spectrum | |
| SETBP1 | q12.3 | Schinzel-Giedion syndrome | Autism spectrum | |
| CFAP53 | q21.1 | heterotaxy syndrome | Heterotaxy | |
| KATNAL2 | q21.1 | Autism 16 with epilepsy (AUTS16) | Autism spectrum | |
| MBD1 | q21.1 | METHYL-CpG-BINDING DOMAIN PROTEIN 1 | Autism spectrum | |
| SMAD2 | q21.1 | heterotaxy syndrome | Heterotaxy | |
| SMAD4 | q21.1 | Myhre syndrome | Cleft lip / cleft palate | |
| TCF4 | q21.1 | Pitt-Hopkins syndrome | Autism spectrum | |
| MYHRS | q21.2 | Myhre syndrome | Cleft lip / cleft palate | |
| TCF4 | q21.2 | Microcephaly - other | Microcephaly | |
| CCBE1 | q21.32 | Microcephaly - other | Microcephaly | |
| CCE1 | q21.32 | Hennekam syndrome | Autism spectrum | |
| MCOP3 | q21.32 | MICROPHTHALMIA ISOLATED 3 | Autism spectrum | |
| RAX | q21.32 | Microphthalmia syndromic 6 (MCOPS6) | Microphthalmia | |
| ZNF407 | q22.3 | ZINC FINGER PROTEIN 407 | Autism spectrum | |
| CTDP1 | q23 | Congenital cataracts facial dysmorphism and neuropathy | Cataracts | |
| TXNL4A | q23 | Burn-McKeown syndrome | Cleft lip / cleft palate | |