| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital hypothyroidism (CH) (TPO) | Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies | Autosomal Recessive | 2p25.3 | Substitution | TPO | c.719A>G | p.Asp240Gly | Missense | Naqvi et al, 2023/2023 |
| Congenital hypothyroidism (CH) (TPO) | Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies | Autosomal Recessive | 2p25.3 | Substitution | TPO | c.2315A>G | p.Tyr772Cys | Missense | Naqvi et al, 2023/2023 |
