| Disease name | Key synonyms / alternative names | OMIM ID | Chromosomal region / core lesion | Key genes implicated | Prevalence estimates reported | Key supporting source(s) / URL |
|---|---|---|---|---|---|---|
| Miller–Dieker lissencephaly syndrome | Miller–Dieker syndrome; MDS; Miller–Dieker lissencephaly syndrome (MDLS); 17p13.3 deletion syndrome | 247200 | 17p13.3 microdeletion / deletion syndrome; described as a heterozygous deletion in the MDS locus on chromosome 17 (pqac-00000010, pqac-00000011, pqac-00000012) | **PAFAH1B1 (LIS1)**, **YWHAE**; also commonly cited in the MDS region: **CRK**, **METTL16** (pqac-00000001, pqac-00000006, pqac-00000011) | ~1 in 100,000 births/babies (pqac-00000011); one 2022 single-center review reported ~1 in 13,000–20,000 newborns (pqac-00000012) | IJMS review (2025): https://doi.org/10.3390/ijms26157375 ; BMC Med Genomics (2022): https://doi.org/10.1186/s12920-022-01423-5 |
| Miller–Dieker syndrome (canonical severe 17p13.3 deletion phenotype) | Severe form of lissencephaly / grade 1 lissencephaly; classical/type I lissencephaly in context of 17p13.3 deletion literature | 247200 | Larger 17p13.3 deletions including the Miller–Dieker critical region from **PAFAH1B1** to **YWHAE**; cytogenetically visible deletions or submicroscopic microdeletions reported (pqac-00000006, pqac-00000010) | **PAFAH1B1 (LIS1)** haploinsufficiency is responsible for the characteristic lissencephaly; deletion including **YWHAE** is associated with the more severe Miller–Dieker phenotype (pqac-00000002, pqac-00000006, pqac-00000010) | Rare; prevalence estimates above apply to MDS/MDLS nomenclature in retrieved evidence (pqac-00000011, pqac-00000012) | Gene (2013): https://doi.org/10.1016/j.gene.2013.09.044 ; Front Genet (2018): https://doi.org/10.3389/fgene.2018.00080 ; AJMG A (2023): https://doi.org/10.1002/ajmg.a.63057 |


*Table: This table summarizes the core nomenclature and identifiers for Miller–Dieker lissencephaly syndrome, including accepted synonyms, OMIM ID, core 17p13.3 deletion region, major genes, and prevalence estimates reported in the gathered evidence. It is useful as a concise disease-knowledge-base normalization reference.*