| Syndrome |
Gene |
Chromosome |
Location |
Category |
| IFAP syndrome | MBTPS2 | 23 | p22.12 | Photophobia - sensitivity to light | |
| Imerslund-Grasbeck syndrome | AMN | 14 | q32.32 | Vitamin B12 metabolism spectrum | |
| Imerslund-Grasbeck syndrome | CUBN | 10 | p13 | Vitamin B12 metabolism spectrum | |
| Incontinentia pigmenti | IKBKG | 23 | q28 | Alopecia | |
| Infantile neuronal ceroid lipofuscinosis | PPT1 | 1 | p32 | Microcephaly | |
| Infantile Parkinsonism dystonia | SLC6A3 | 5 | p15.33 |
Parkinsonism | |
| Inherited thyroxine-binding globulin deficiency | SERPINA7 | 23 | q22.3 | Hypothyroidism | |
| insulin-dependent diabetes mellitus | CLEC16A | 16 | p13.13 | Diabetes | |
| insulin-dependent diabetes mellitus | PTPRN | 2 | q35 | Diabetes | |
| INTEGRIN BETA-3 | ITGB3 | 17 | q21.32 | Autism spectrum | |
| INTELLECTUAL DEVELOPMENTAL DISORDER 1 | IDDAS | 2 | q24.2 | Autism spectrum | |
| INTELLECTUAL DEVELOPMENTAL DISORDER 2 | IDDECA | 15 | q22.2 | Autism spectrum | |
| INTELLECTUAL DEVELOPMENTAL DISORDER 3 | IDDFBA | 2 | p16.3 | Autism spectrum | |
| INTELLECTUAL DEVELOPMENTAL DISORDER 4 | IDDFSDA | 8 | q21.3 | Autism spectrum | |
| INTELLECTUAL DEVELOPMENTAL DISORDER 5 | IDDHDF | 14 | q32.2 | Autism spectrum | |
| INTELLECTUAL DEVELOPMENTAL DISORDER 6 | IDDNPF | 1 | p36.23 | Autism spectrum | |
| INTELLECTUAL DEVELOPMENTAL DISORDER 7 | IDDSFTA | 14 | q32.2 | Autism spectrum | |
| INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 70 | MRT70 | 3 | q25.32 | Autism spectrum | |
| Intellectual developmental disorder with persistence of fetal hemoglobin | BCL11A | 2 | p16.1 | Autism spectrum | |
| INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2 | INTLQ2 | 6 | p25.3-p22. | Autism spectrum | |
| INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1 | IL1RAPL1 | 23 | P21.2-3 | Autism spectrum | |
| INTERLEUKIN 17A | IL17A | 6 | p12.2 | Autism spectrum | |
| intractable epilepsy | HSPBAP1 | 3 | q21.1 | Epilepsy and seizures | |
| Intraheptic cholestasis | ABCB11 | 2 | q24 | Bradycardia (<60 beats/minute) | |
| Intraheptic cholestasis | ABCD4 | 7 | q21.1 | Bradycardia (<60 beats/minute) | |
| IPEX immune dysregulation polyendocrinopathy enteropathy X-linked syndrome | FOXP3 | 23 | p11.23 | Hyperthyroidism | |
| Isolated microphthalmia with cataract type 2 (MCOPCT2) | SIX6 | 14 | q23.1 | Microphthalmia | |
| Isolated sulfite oxidase deficiency | SUOX | 12 | q13.2 | Ataxia spectrum | |