| Gene |
Location |
Syndrome |
Category |
| SRCAP | p11.12 | Floating-Harbor syndrome | Autism spectrum | |
| AUTS14A | p11.2 | AUTS14A - 16p11.2 deletion syndrome | Autism spectrum | |
| AUTS14B | p11.2 | AUTS14B replication syndrome | Autism spectrum | |
| BCKDK | p11.2 | Branched-chain ketoacid dehydrogenase kinase deficiency | Autism spectrum | |
| BCKDKD | p11.2 | BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY | Autism spectrum | |
| FUS | p11.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| GEFSP9 | p11.2 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9 | Autism spectrum | |
| KCTD13 | p11.2 | POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13 | Autism spectrum | |
| SETD1A | p11.2 | SET DOMAIN-CONTAINING PROTEIN 1A | Autism spectrum | |
| STX1B | p11.2 | Genetic epilepsy with febrile seizures plus | Ataxia spectrum | |
| STX1B | p11.2 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
| IL4R | p11.2-12.1 | Asthma-related traits (ASRT) | Asthma | |
| CRYM | p12.2 | Thyroid disorders | Hypothyroidism | |
| PALB2 | P12.2 | Microcephaly - other | Microcephaly | |
| COQ7 | P12.3 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
| ADHD1 | p13 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
| GRIN2A | p13 | EPILEPSY FOCAL WITH SPEECH DISORDER | Autism spectrum | |
| NDE1 | p13.11 | Microcephaly - other | Microcephaly | |
| CLEC16A | p13.13 | insulin-dependent diabetes mellitus | Diabetes | |
| ABAT | p13.2 | GABA-transaminase deficiency | Epilepsy and seizures | |
| TMEM114 | p13.2 | Congenital and juvenile cataracts | Cataracts | |
| ALG1 | p13.3 | ALG1-congenital disorder of glycosylation | Ataxia spectrum | |
| CACNA1H | p13.3 | childhood absence epilepsy 6 | Encephalitis | |
| CAFDADD | p13.3 | CARDIAC FACIAL AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY | Autism spectrum | |
| CREBBP | p13.3 | Rubinstein-Taybi syndrome | Autism spectrum | |
| FFEVF3 | p13.3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 3 | Autism spectrum | |
| HBA1 | p13.3 | Alpha thalassemia | Microcephaly | |
| HBA2 | p13.3 | Alpha thalassemia | Microcephaly | |
| IFT140 | p13.3 | Mainzer-Saldino syndrome | Ataxia spectrum | |
| IGFALS | p13.3 | ALS | ALS - amyotrophic lateral sclerosis | |
| MKHK1 | p13.3 | MENKE-HENNEKAM SYNDROME 1 | Autism spectrum | |
| NEDBA | p13.3 | NEURODEVELOPMENTAL DISORDER 07 | Autism spectrum | |
| NPRL3 | p13.3 | Familial focal epilepsy with variable foci | Epilepsy and seizures | |
| RBFOX1 | p13.3 | RNA-BINDING PROTEIN FOX1 | Autism spectrum | |
| RSTS1 | p13.3 | RUBINSTEIN-TAYBI SYNDROME 1 | Autism spectrum | |
| SLX4 | p13.3 | Microcephaly - other | Microcephaly | |
| STUB1 | p13.3 | Spinocerebellar ataxia autosomal recessive type 16 | Ataxia spectrum | |
| TBC1D24 | p13.3 | Thyroid disorders | Hypothyroidism | |
| TBC1D24 | p13.3 | Microcephaly - other | Microcephaly | |
| TRAF7 | p13.3 | TNF RECEPTOR-ASSOCIATED FACTOR 7 | Autism spectrum | |
| TSC2 | p13.3 | Tuberous sclerosis complex | Autism spectrum | |
| VPS35 | q11.2 | Parkinson disease type 17 |
Parkinsonism | |
| ORC6 | q12 | Meier-Gorlin syndrome | Microcephaly | |
| CBLN1 | q12.1 | PRECEREBELLIN 1 | Autism spectrum | |
| NOD2 | q12.1 | Crohn Disease | Irritable Bowel Disorders | |
| NOD2 | q12.1 | Blau syndrome | Photophobia - sensitivity to light | |
| TOX3 | q12.1 | Restless legs syndrome | Sleep disorders | |
| FTO | q12.2 | Type 2 Diabetes | Diabetes | |
| SLC6A2 | q12.2 | Orthostatic intolerance syndrome | Tachycardia (>100 beats/minute) | |
| SEMDFA | q13 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA FADEN-ALKURAYA TYPE | Autism spectrum | |
| BEAN1 | q21 | Spinocerebellar ataxia type 31 | Ataxia spectrum | |
| CDH8 | q21 | CADHERIN 8 | Autism spectrum | |
| COQ9 | q21 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
| TK2 | q21 | Progressive external ophthalmoplegia | Ataxia spectrum | |
| DHODH | q22 | Miller syndrome | Cleft lip / cleft palate | |
| AARS | q22.1 | Epileptic encephalopathy early infantile 29 (EIEE29) | Autism spectrum | |
| CTCF | q22.1 | CCCTC-BINDING FACTOR | Autism spectrum | |
| MRD21 | q22.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 21 | Autism spectrum | |
| HP | q22.2 | Crohn Disease | Irritable Bowel Disorders | |
| TAT | q22.2 | Tyrosinemia type 02 | Ataxia spectrum | |
| FA2H | q23 | Fatty acid hydroxylase-associated neurodegeneration (FAHN) | Cerebral palsy | |
| WWOX | q23.1-2 | Spinocerebellar ataxia autosomal recessive type 12 | Ataxia spectrum | |
| CTRCT21 | q23.2 | CATARACT 21 MULTIPLE TYPES | Autism spectrum | |
| GAN | q23.2 | Giant axonal neuropathy | Ataxia spectrum | |
| GCSH | q23.2 | GLYCINE ENCEPHALOPATHY | Autism spectrum | |
| MAF | q23.2 | Cataract 21 multiple types (CTRCT21) | Cataracts | |
| IRF8 | q24.1 | Rheumatoid arthritis | Arthritis | |
| JPH3 | q24.2 | Huntington disease-like syndrome type 2 | Huntington`s disease spectrum | |
| ACSF3 | q24.3 | Combined malonic and methylmalonic aciduria (CMAMMA) | Microcephaly | |
| ANKRD11 | q24.3 | KBG Syndrome | Autism spectrum | |
| CDT1 | q24.3 | Meier-Gorlin syndrome | Microcephaly | |
| CHMP1A | q24.3 | Pontocerebellar hypoplasia | Microcephaly | |
| FANCA | q24.3 | Microcephaly - other | Microcephaly | |
| MCR1 | q24.3 | Oculocutaneous albinism type 1 | Photophobia - sensitivity to light | |
| SPG7 | q24.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |