Here I present: “Intellect-development disorder, seizures, language-delay”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=F78.A1 (IDDSELD)
INTRODUCTION.
Intellect-development disorder, seizures, language-delay (IDDSELD) is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life. Seizures tend to be myoclonic, although variable types have been reported. Many patients have accompanying behavioral abnormalities, most commonly autism spectrum disorder and anxiety. Additional features, such as facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed.
There is evidence that intellect-development disorder, seizures, language delay (IDDSELD) is caused by heterozygous mutation in the SETD1B gene on cytogenetic location 12q24.31 and genomic coordinates 12:121,790,155-121,832,656. The screenshot of the SETD1B gene 42,502 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SETD1B in the 12q24.31 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 12:121,408,461 | KDM2B | Lysine demethylase 2B |
| 12:121,626,530 | ORAI1 | ORAI calcium release-activated calcium modulator 1 |
| 12:121,712,752 | TMEM120B | Transmembrane protein 120B |
| 12:121,777,754 | RHOF | RAS homolog gene family, member F, filopodia-associated |
| 12:121,790,155 | SETD1B | SET domain-containing protein 1B |
| 12:121,839,527 | HPD | 4-hydroxyphenylpyruvate dioxygenase |
| 12:121,888,790 | PSMD9 | Proteasome 26S subunit, non-ATPase, 9 |
| 12:121,918,592 | WDR66 | WD repeat-containing protein 66 |
| 12:122,021,884 | BCL7A | BAF chromatin remodeling complex subunit BCL7A |
| 12:122,078,756 | MLXIP | MLX-interacting protein |
