| Gene |
Location |
Syndrome |
Category |
| ANG | q11.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| AUTS18 | q11.2 | AUTISM | Autism spectrum | |
| CHD8 | q11.2 | Autism 18 (AUTS18) | Autism spectrum | |
| DHRS4 | q11.2 | Autism 18 (AUTS18) | Autism spectrum | |
| DHRS4L1 | q11.2 | Autism 18 (AUTS18) | Autism spectrum | |
| DHRS4L2 | q11.2 | Autism 18 (AUTS18) | Autism spectrum | |
| PABPN1 | q11.2 | Oculopharyngeal muscular dystrophy | Muscular dystrophies | |
| PNP | q11.2 | Purine nucleoside phosphorylase deficiency | Ataxia spectrum | |
| RPGRIP1 | q11.2 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| TRA | q11.2 | Narcolepsy | Sleep disorders | |
| AP4S1 | q12 | Cerebral palsy spastic quadriplegic type 6 (CPSQ6) disorder | Cerebral palsy | |
| FOXG1 | q12 | Microcephaly - other | Microcephaly | |
| MYH6 | q12 | Sick sinus syndrome | Bradycardia (<60 beats/minute) | |
| TGM1 | q12 | Lamellar ichthyosis | Alopecia | |
| FOXG1 | q13 | FOXG1 Syndrome | Autism spectrum | |
| NKX2-1 | q13.3 | Brain-lung-thyroid syndrome | Hypothyroidism | |
| NEDMEBA | q21.1 | NEURODEVELOPMENTAL DISORDER 11 | Autism spectrum | |
| TRAPPC6B | q21.1 | TRAFFICKING PROTEIN PARTICLE COMPLEX SUBUNIT 6B | Autism spectrum | |
| FANCM | q21.2 | Microcephaly - other | Microcephaly | |
| L2HGDH | q21.3 | 2-hydroxyglutaric aciduria | Ataxia spectrum | |
| SOS2 | q21.3 | Noonan syndrome | Autism spectrum | |
| PTGER2 | q22 | Asthma with nasal polyps and aspirin intolerance (ANPAI) | Asthma | |
| PTGDR | q22.1 | Asthma-related traits 1 (ASRT1) | Asthma | |
| PTGER2 | q22.1 | aspirin-induced susceptibility to asthma | Reye`s Syndrome-like diseases | |
| BMP4 | q22.2 | Microphthalmia syndromic 6 (MCOPS6) | Microphthalmia | |
| GPHN | q22.3 | Molybdenum cofactor deficiency | Microcephaly | |
| OTX2 | q22.3 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | Microphthalmia | |
| SIX6 | q23.1 | Isolated microphthalmia with cataract type 2 (MCOPCT2) | Microphthalmia | |
| KCNH5 | q23.2 | POTASSIUM CHANNEL VOLTAGE-GATED SUBFAMILY H MEMBER 5 | Autism spectrum | |
| GPHN | q23.3 | hereditary hyperekplexia | Epilepsy and seizures | |
| TGFB3 | q24 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
| GPIBD17 | q24.1 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 | Autism spectrum | |
| PIGH | q24.1 | PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS H PROTEIN | Autism spectrum | |
| RDH12 | q24.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| SMOC1 | q24.2 | Ophthalmo-acromelic syndrome | Cleft lip / cleft palate | |
| ABCD4 | q24.3 | methylmalonic acidemia with homocystinuria | Vitamin B12 metabolism spectrum | |
| ABCD4 | q24.3 | Microcephaly - other | Microcephaly | |
| COQ6 | Q24.3 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
| NEDAMSS | q24.3 | NEURODEVELOPMENTAL DISORDER 06 | Autism spectrum | |
| NPC2 | q24.3 | Niemann-Pick disease | Ataxia spectrum | |
| NRXN3 | q24.3 | Pervasive Developmental Delay - not otherwise specified | Pervasive Developmental Delay | |
| POMT2 | q24.3 | Walker-Warburg syndrome | Microphthalmia | |
| PSEN1 | q24.3 | Alzheimer - early onset | Alzheimer Syndrome | |
| VIPAS39 | q24.3 | Arthrogryposis renal dysfunction and cholestasis syndrome 2 (ARCS2) | Arthrogryposis spectrum | |
| VSX2 | q24.3 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | Microphthalmia | |
| TSHR | q31 | Graves Disease | Bradycardia (<60 beats/minute) | |
| TSHR | q31.1 | Congenital hypothyroidism | Hypothyroidism | |
| TSHR | q31.1 | Graves disease - overactive thyroid | Hyperthyroidism | |
| SPATA7 | q31.3 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| HFM | q32 | HEMIFACIAL MICROSOMIA | Autism spectrum | |
| VRK1 | q32 | Pontocerebellar hypoplasia | Microcephaly | |
| SERPINA1 | q32.1 | Alpha-1 antitrypsin deficiency | Tachycardia (>100 beats/minute) | |
| CALM1 | q32.11 | Ventricular tachycardia | Tachycardia (>100 beats/minute) | |
| TDP1 | q32.11 | Spinocerebellar ataxia autosomal recessive with axonal neuropathy type 01 | Ataxia spectrum | |
| ATXN3 | q32.12 | Spinocerebellar ataxia type 03 | Ataxia spectrum | |
| TRIP11 | q32.12 | Thyroid disorders | Hypothyroidism | |
| DICER1 | q32.13 | Thyroid disorders | Hypothyroidism | |
| GLOW | q32.13 | GLOBAL DEVELOPMENTAL DELAY LUNG CYSTS OVERGROWTH WILMS TUMOR | Autism spectrum | |
| GADEVS | q32.2 | GABRIELE-DE VRIES SYNDROME | Autism spectrum | |
| IDDHDF | q32.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 5 | Autism spectrum | |
| IDDSFTA | q32.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 7 | Autism spectrum | |
| DYNC1H1 | q32.31 | Mental retardation autosomal dominant 13 (MRD13) | Autism spectrum | |
| MRD13 | q32.31 | MENTAL RETARDATION AUTOSOMAL DOMINANT 13 | Autism spectrum | |
| AMN | q32.32 | Imerslund-Grasbeck syndrome | Vitamin B12 metabolism spectrum | |
| EIEE66 | q32.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 66 | Autism spectrum | |
| IGHM | q32.33 | ALS | ALS - amyotrophic lateral sclerosis | |