| Gene |
Location |
Syndrome |
Category |
| EXOSC3 | p11 | Pontocerebellar hypoplasia | Microcephaly | |
| TPM2 | p13 | Distal arthrogryposis type 1 | Arthrogryposis spectrum | |
| PAX5 | p13.2 | Autism 18 (AUTS18) | Autism spectrum | |
| CCL21 | p13.3 | Rheumatoid arthritis | Arthritis | |
| DNAI1 | p13.3 | heterotaxy syndrome | Heterotaxy | |
| FANCG | p13.3 | Microcephaly - other | Microcephaly | |
| GALT | p13.3 | Galactosemia (type I) | Galactosemia | |
| MRT61 | p13.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 61 | Autism spectrum | |
| PIGO | p13.3 | Mabry syndrome | Autism spectrum | |
| RMRP | p13.3 | Gluten allergy | Gluten intolerance | |
| SIGMAR1 | p13.3 | ALS | ALS - amyotrophic lateral sclerosis | |
| VCP | p13.3 | ALS | ALS - amyotrophic lateral sclerosis | |
| APTX | p21.1 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
| C9orf72 | p21.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| IFT74 | p21.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| TYRP1 | p23 | Oculocutaneous albinism type 3 | Photophobia - sensitivity to light | |
| MACID | p23-p22 | MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENT | Autism spectrum | |
| GLDC | p24.1 | GLYCINE ENCEPHALOPATHY | Autism spectrum | |
| JAK2 | p24.1 | Crohn Disease | Irritable Bowel Disorders | |
| PTPRD | p24.1 | Restless legs syndrome | Sleep disorders | |
| GLIS3 | p24.2 | Congenital hypothyroidism | Hypothyroidism | |
| GLIS3 | p24.2 | Diabetes mellitus neonatal with congenital hypothyroidism | Diabetes | |
| VLDLR | p24.2 | VLDLR-associated cerebellar hypoplasia | Ataxia spectrum | |
| DOCK8 | p24.3 | Autosomal recessive hyper-IgE syndrome (AR-HIES) | Asthma | |
| KANK1 | p24.3 | Cerebral palsy spastic quadriplegic type 2 (CPSQ2) disorder | Cerebral palsy | |
| NCBRS | p24.3 | NICOLAIDES-BARAITSER SYNDROME | Autism spectrum | |
| SMARCA2 | p24.3 | Microcephaly - other | Microcephaly | |
| AK308561 | q13 | Autism 18 (AUTS18) | Autism spectrum | |
| BC080605 | q13 | Autism 18 (AUTS18) | Autism spectrum | |
| LOC642236 | q13 | Autism 18 (AUTS18) | Autism spectrum | |
| FXN | q21.11 | Friedreich ataxia | Ataxia spectrum | |
| EIG15 | q21.13 | EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 15 | Autism spectrum | |
| VPS13A | q21.2 | Chorea-acanthocytosis | Panic phobia anxiety | |
| EIEE58 | q21.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 58 | Autism spectrum | |
| OBHD | q21.33 | OBESITY HYPERPHAGIA AND DEVELOPMENTAL DELAY | Autism spectrum | |
| TGFBR1 | q22 | Loeys-Dietz syndrome | Asthma | |
| SECISBP2 | q22.2 | Thyroid disorders | Hypothyroidism | |
| AUH | q22.31 | 3-methylglutaconyl-CoA hydratase deficiency | Ataxia spectrum | |
| PHF2 | q22.31 | Autism 18 (AUTS18) | Autism spectrum | |
| FANCC | q22.32 | Microcephaly - other | Microcephaly | |
| PTCH1 | q22.32 | Microcephaly - other | Microcephaly | |
| EIEE59 | q22.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 59 | Autism spectrum | |
| FOXE1 | q22.33 | Thyroid disorders | Hypothyroidism | |
| NDPLHS | q22.33 | NEURODEVELOPMENTAL DISORDER 04 | Autism spectrum | |
| TDRD7 | q22.33 | Cataract 36 (CTRCT36) | Cataracts | |
| ABCA1 | q31.1 | Type 2 Diabetes | Diabetes | |
| NR4A3 | q31.1 | Thyroid disorders | Hypothyroidism | |
| ZNF462 | q31.2 | Mental retardation autosomal dominant 40 | Autism spectrum | |
| GSN | q33 | Lattice corneal dystrophy type II | Cerebral palsy | |
| C5 | q33.2 | Rheumatoid arthritis | Arthritis | |
| CDK5RAP2 | q33.2 | Autosomal recessive primary microcephaly | Microcephaly | |
| TRAF1 | q33.2 | Rheumatoid arthritis | Arthritis | |
| ADAMTS13 | q34 | Thrombotic thrombocytopenic purpura | Tachycardia (>100 beats/minute) | |
| TSC1 | q34 | Tuberous sclerosis complex | Autism spectrum | |
| ASS1 | q34.11 | Citrullinemia | Ataxia spectrum | |
| COQ4 | Q34.11 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
| GLE1 | q34.11 | Lethal arthrogryposis with anterior horn cell disease | Arthrogryposis spectrum | |
| MIR2861 | q34.11 | Thyroid disorders | Hypothyroidism | |
| STXBP1 | q34.11 | STXBP1 encephalopathy with epilepsy | Epilepsy and seizures | |
| WDR34 | q34.11 | Short-rib thoracic dysplasia 13 | Cleft lip / cleft palate | |
| ABL1 | q34.12 | Acute lymphoblastic leukemia | Leukemia | |
| MDDGB1 | q34.13 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE B 1 | Autism spectrum | |
| MED27 | q34.13 | Autism 18 (AUTS18) | Autism spectrum | |
| POMT1 | q34.13 | Walker-Warburg syndrome | Microphthalmia | |
| RAPGEF1 | q34.13 | Cerebral palsy - unassigned | Cerebral palsy | |
| SETX | q34.13 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
| SETX | q34.13 | ALS | ALS - amyotrophic lateral sclerosis | |
| RPL7A | q34.2 | Thyroid disorders | Hypothyroidism | |
| AGPAT2 | q34.3 | Type 2 Diabetes | Diabetes | |
| EHMT1 | q34.3 | Kleefstra sndrome | Autism spectrum | |
| EHMT1 | q34.3 | Microcephaly - other | Microcephaly | |
| GRIN1 | q34.3 | GLUTAMATE RECEPTOR IONOTROPIC N-METHYL-D-ASPARTATE SUBUNIT 1 | Autism spectrum | |
| JBTS1 | q34.3 | JOUBERT SYNDROME 1 | Autism spectrum | |
| KCNT1 | q34.3 | Autosomal dominant nocturnal frontal lobe epilepsy | Epilepsy and seizures | |
| KCNT1 | q34.3 | Microcephaly - other | Microcephaly | |
| KLEFS1 | q34.3 | KLEEFSTRA SYNDROME 1 | Autism spectrum | |
| MRT15 | q34.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 15 | Autism spectrum | |
| NDHMSD | q34.3 | NEURODEVELOPMENTAL DISORDER 01 | Autism spectrum | |
| NDHMSR | q34.3 | NEURODEVELOPMENTAL DISORDER 02 | Autism spectrum | |
| PMPCA | q34.3 | Spinocerebellar ataxia autosomal recessive type 02 | Ataxia spectrum | |