| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Trichothiodystrophy 1 (ERCC2) | Severe ID, developmental delay, delayed speech to absent speech, microcephaly (<1 centile), mild hypotonia, and mild facial dysmorphism, such as a relatively large nose with a beaked tip. | Autosomal Recessive | 19q13.32 | Missense | ERCC2 | c.1255G>A | p.Glu419Lys | Amino acid Substitution | Paracha et al. 2024/2024 |
