| Gene |
Location |
Syndrome |
Category |
| HBII-85 | p11-13 | Prader-Willi | Autism spectrum | |
| AUTS4 | q11 | AUTISM | Autism spectrum | |
| AS | q11.2 | ANGELMAN SYNDROME | Autism spectrum | |
| MAGEL2 | q11.2 | Prader-Willi | Autism spectrum | |
| SHFYNG | q11.2 | SCHAAF-YANG SYNDROME | Autism spectrum | |
| UBE3A | q11.2 | Microcephaly - other | Microcephaly | |
| UBE3A | q11-q13 | Angelman`s Syndrome | Autism spectrum | |
| ATP10A | q12 | ATPase CLASS V TYPE 10A | Autism spectrum | |
| GABRA5 | q12 | GAMMA-AMINOBUTYRIC ACID RECEPTOR ALPHA-5 | Autism spectrum | |
| GABRB3 | q12 | Epilepsy childhood absence 5 (ECA5) | Autism spectrum | |
| GABRG3 | q12 | GAMMA-AMINOBUTYRIC ACID RECEPTOR GAMMA-3 | Autism spectrum | |
| OCA2 | q12 | Oculocutaneous albinism type 2 | Photophobia - sensitivity to light | |
| OCA2 | q12-13.1 | Angelman`s Syndrome | Autism spectrum | |
| HERC2 | q13 | Prader-Willi | Autism spectrum | |
| SLC12A6 | q13 | Andermann syndrome | Cerebral palsy | |
| MRT38 | q13.1 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 38 | Autism spectrum | |
| NSMCE3 | q13.1 | NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 3 HOMOLOG | Autism spectrum | |
| OCA2 | q13.1 | Microcephaly - other | Microcephaly | |
| CHRNA7 | q13.3 | 15q13.3 microdeletion syndrome | Autism spectrum | |
| OTUD7A | q13.3 | OTU DOMAIN-CONTAINING PROTEIN 7A | Autism spectrum | |
| RYR3 | q13.3 | Autism 18 (AUTS18) | Autism spectrum | |
| up to 6 | q13.3 | 15q13.3 microdeletion syndrome | Autism spectrum | |
| CASC5 | q14 | Microcephaly - other | Microcephaly | |
| CPCMR | q14 | Cleft palate cardiac defects and mental retardation | Cleft lip / cleft palate | |
| MEIS2 | q14 | Cleft palate cardiac defects and mental retardation | Cleft lip / cleft palate | |
| RASGRP1 | q14 | Rheumatoid arthritis | Arthritis | |
| KNL1 | q15.1 | Microcephaly - other | Microcephaly | |
| CDAN1 | q15.2 | Type 1 Diabetes | Diabetes | |
| TTBK2 | q15.2 | Spinocerebellar ataxia type 11 | Ataxia spectrum | |
| TUBGCP4 | q15.3 | Microcephaly - other | Microcephaly | |
| BLOC1S6 | q21.1 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| CCDS3 | q21.1 | CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | Autism spectrum | |
| CEP152 | q21.1 | Autosomal recessive primary microcephaly | Microcephaly | |
| DUOX2 | q21.1 | Congenital hypothyroidism | Hypothyroidism | |
| DUOXA2 | q21.1 | Congenital hypothyroidism | Hypothyroidism | |
| FBN1 | q21.1 | Marfan syndroe | Cataracts | |
| GATM | q21.1 | Arginine glycine amidinotransferase deficiency | Autism spectrum | |
| SLC24A5 | q21.1 | Oculocutaneous albinism type 6 | Photophobia - sensitivity to light | |
| SPG11 | q21.1 | ALS | ALS - amyotrophic lateral sclerosis | |
| AP4E1 | q21.2 | Cerebral palsy spastic quadriplegic type 4 (CPSQ4) disorder | Cerebral palsy | |
| HDC | q21.2 | HISTIDINE DECARBOXYLASE | Autism spectrum | |
| LEO1 | q21.2 | LEO1 RNA POLYMERASE II ASSOCIATED FACTOR S. CEREVISIAE HOMOLOG OF | Autism spectrum | |
| MYO5A | q21.2 | Griscelli syndrome | Autism spectrum | |
| TRPM7 | q21.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| CRS3 | q21.3 | CRANIOSYNOSTOSIS 3 | Autism spectrum | |
| DNAAF4 | q21.3 | Dyslexia type 1 | Dyslexia | |
| LIPC | q21.3 | Hepatic lipase deficiency | Hyperlipidemia | |
| OCA2 | q21.3 | Prader-Willi | Autism spectrum | |
| RPS17 | q21.3 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| TCF12 | q21.3 | TRANSCRIPTION FACTOR 12 | Autism spectrum | |
| IDDECA | q22.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 2 | Autism spectrum | |
| RORA | q22.2 | RAR-RELATED ORPHAN RECEPTOR A | Autism spectrum | |
| VPS13C | q22.2 | Parkinson disease autosomal recessive | Parkinsonism |
| MAP2K1 | q22.31 | Cardiofaciocutaneous syndrome | Autism spectrum | |
| MAP2K1 | q22.31 | Langerhans cell histiocytosis | Diabetes | |
| MAP2K1 | q22.31 | Noonan syndrome | Autism spectrum | |
| TRIP4 | q22.31 | Thyroid disorders | Hypothyroidism | |
| SMAD3 | q22.33 | Loeys-Dietz syndrome | Asthma | |
| CLN6 | q23 | CLN6 disease | Ataxia spectrum | |
| HEXA | q23 | Tay-Sachs disease | Ataxia spectrum | |
| MAP2K5 | q23 | Restless legs syndrome | Sleep disorders | |
| SKOR1 | q23 | Restless legs syndrome | Sleep disorders | |
| TLE3 | q23 | Rheumatoid arthritis | Arthritis | |
| HCN4 | q24.1 | Sick sinus syndrome | Bradycardia (<60 beats/minute) | |
| PML | q24.1 | Acute lymphoblastic leukemia | Leukemia | |
| STRA6 | q24.1 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | Microphthalmia | |
| SIN3A | q24.2 | Witteveen-kolk syndrome | Autism spectrum | |
| WITKOS | q24.2 | Witteveen-kolk syndrome | Autism spectrum | |
| FAH | q25.1 | Tyrosinemia type 01 | Ataxia spectrum | |
| MIR184 | q25.1 | Familial keratoconus with cataract (EDICT) | Cataracts | |
| RPS17 | q25.2 | Microcephaly - other | Microcephaly | |
| NTRK3 | q25.3 | Acute myeloid leukemia | Leukemia | |
| ZNF592 | q25.3 | Autosomal recessive spinocerebellar ataxia | Ataxia spectrum | |
| CHD2 | q26.1 | Epileptic encephalopathy early infantile 24 (EIEE24) | Autism spectrum | |
| EEOC | q26.1 | EPILEPTIC ENCEPHALOPATHY CHILDHOOD-ONSET | Autism spectrum | |
| FANCI | q26.1 | Microcephaly - other | Microcephaly | |
| IDH2 | q26.1 | 2-hydroxyglutaric aciduria | Ataxia spectrum | |
| PLIN1 | q26.1 | Familial partial lipodystrophy | Diabetes | |
| POLG | q26.1 | Ataxia neuropathy spectrum | Ataxia spectrum | |
| POLG | q26.1 | Myoclonic epilepsy myopathy sensory ataxia | Epilepsy and seizures | |
| VPS33B | q26.1 | Arthrogryposis renal dysfunction and cholestasis syndrome 2 (ARCS2) | Arthrogryposis spectrum | |
| ALDH1A3 | q26.3 | ALDEHYDE DEHYDROGENASE 1 FAMILY MEMBER A3 | Autism spectrum | |
| CERS3 | q26.3 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
| MCOP8 | q26.3 | MICROPHTHALMIA ISOLATED 8 | Autism spectrum | |