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Miller-Dieker Lissencephaly Syndrome

Miller–Dieker Lissencephaly Syndrome (MDLS): Disease Characteristics Research Report

2026-06-03
Falcon MONDO:0009532 Model: Edison Scientific Literature 22 citations

Miller–Dieker Lissencephaly Syndrome (MDLS): Disease Characteristics Research Report

1. Disease information

Overview / definition (current understanding)

Miller–Dieker lissencephaly syndrome (MDLS), also called Miller–Dieker syndrome (MDS), is a severe neuronal migration disorder caused by a chromosome 17p13.3 deletion involving multiple genes in the “Miller–Dieker critical region,” leading to classical (type I) lissencephaly (smooth cerebral surface) with profound neurodevelopmental impairment, seizures, characteristic craniofacial features, growth failure, and high early mortality. (baker2023furtherexpansionand pages 1-2, blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2, chen2013chromosome17p13.3deletion pages 1-2)

Key identifiers (from retrieved primary/review literature)

Synonyms / alternative names

Evidence source type

The retrieved information is primarily from aggregated disease-level resources (peer-reviewed reviews and cohort descriptions) and case-based clinical genetics literature using cytogenetics/microarray testing and imaging (blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2, chen2013chromosome17p13.3deletion pages 1-2, liang2022clinicalfindingsand pages 1-2).

Table (click to expand)
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 (chen2013chromosome17p13.3deletion pages 1-2, mahendran2025understandingthemolecular pages 1-2, liang2022clinicalfindingsand pages 1-2) PAFAH1B1 (LIS1), YWHAE; also commonly cited in the MDS region: CRK, METTL16 (mahendran2025understandingthemolecular pages 1-2, blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2) ~1 in 100,000 births/babies (mahendran2025understandingthemolecular pages 1-2); one 2022 single-center review reported ~1 in 13,000–20,000 newborns (liang2022clinicalfindingsand pages 1-2) 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 (blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2, chen2013chromosome17p13.3deletion pages 1-2) PAFAH1B1 (LIS1) haploinsufficiency is responsible for the characteristic lissencephaly; deletion including YWHAE is associated with the more severe Miller–Dieker phenotype (baker2023furtherexpansionand pages 1-2, blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2, chen2013chromosome17p13.3deletion pages 1-2) Rare; prevalence estimates above apply to MDS/MDLS nomenclature in retrieved evidence (mahendran2025understandingthemolecular pages 1-2, liang2022clinicalfindingsand pages 1-2) 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.

2. Etiology

Disease causal factors

Primary cause (genetic): contiguous gene deletion at 17p13.3. - A 2013 prenatal diagnostic report describes MDLS (OMIM 247200) as caused by deletions/microdeletions at 17p13.3 with haploinsufficiency of PAFAH1B1 (LIS1), and documents a representative deletion (“arr [hg19] 17p13.3 (0–3,165,530)×1”) with confirmatory FISH and karyotype. (chen2013chromosome17p13.3deletion pages 1-2) - A 2018 review describes MDLS/MDS as resulting from larger 17p13.3 microdeletions compared with isolated lissencephaly, with the MDS critical region spanning PAFAH1B1 to YWHAE. (blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2)

Key causal gene(s): - PAFAH1B1 (LIS1) haploinsufficiency is emphasized as responsible for the characteristic lissencephaly in MDS. (baker2023furtherexpansionand pages 1-2, chen2013chromosome17p13.3deletion pages 1-2) - Deletion of YWHAE (14-3-3ε) is frequently co-involved in the classical MDLS region, and literature distinguishes phenotypes when YWHAE is deleted without PAFAH1B1 (distinct condition). (baker2023furtherexpansionand pages 1-2, blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2)

Risk factors

For MDLS specifically, the dominant “risk factor” is a pathogenic de novo or inherited structural variant affecting 17p13.3. The gathered evidence set does not provide robust population-level risk-factor quantification (e.g., parental age effect) beyond the genetic mechanism.

Protective factors / gene–environment interactions

No protective variants or gene–environment interactions were identified in the retrieved evidence set; this is expected for a primarily contiguous gene deletion syndrome.

3. Phenotypes

Core phenotype spectrum (human clinical)

A 2023 cohort/literature synthesis states that the most severe 17p13.3 deletion phenotype is MDS, “characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.” (baker2023furtherexpansionand pages 1-2)

A 2025 multi-omics paper summarizes commonly reported MDS features including lissencephaly/agyria, microcephaly and craniofacial anomalies, ventriculomegaly, hypotonia, epilepsy/seizures, and congenital anomalies; it also notes aspiration pneumonia as a leading cause of death and highlights that severity of lissencephaly correlates with life expectancy. (mahendran2025multiomicsapproachreveals pages 1-3)

Phenotype types and suggested HPO terms (examples): - Lissencephaly / agyria-pachygyria spectrum (clinical sign; congenital) → HP:0001339 (Lissencephaly) - Epilepsy / seizures (symptom/sign; infantile onset common) → HP:0001250 (Seizures), HP:0001251 (Ataxia) if present - Global developmental delay / severe intellectual disability → HP:0001263 (Global developmental delay), HP:0001249 (Intellectual disability) - Hypotonia → HP:0001252 - Microcephaly → HP:0000252 - Growth failure / growth retardation → HP:0001508 - Craniofacial dysmorphism (e.g., prominent forehead, broad nasal root, epicanthal folds noted across 17p13.3 CNV spectrum) → HP:0011220 (Prominent forehead), HP:0000286 (Epicanthus), HP:0000431 (Broad nasal bridge)

Frequency / statistics: robust phenotype frequency percentages for MDLS were not available in the gathered full texts; one table retrieved (below) summarizes frequencies for a related but distinct 17p13.3 deletion subtype (YWHAE deleted while PAFAH1B1 spared), included here to clarify genotype–phenotype boundaries. (baker2023furtherexpansionand media c19cbb92, baker2023furtherexpansionand media 4e57cd55)

Quality of life impact

Given severe neurodevelopmental impairment, epilepsy, feeding/respiratory complications, and hypotonia, MDLS has profound impacts on daily functioning. Direct validated QoL instrument results (e.g., EQ-5D, PedsQL) were not found in the retrieved evidence.

Genotype–phenotype boundary within the 17p13.3 region

A 2023 study explicitly distinguishes deletions including YWHAE but not PAFAH1B1 as “a distinct condition from MDS,” associated with developmental delay, dysmorphism, leukoencephalopathy, and high frequency of epilepsy and intellectual disability, but not the classical PAFAH1B1-driven lissencephaly. (baker2023furtherexpansionand pages 1-2, baker2023furtherexpansionand media c19cbb92, baker2023furtherexpansionand media 4e57cd55)

4. Genetic / molecular information

Causal genes and chromosomal abnormalities

Primary lesion: heterozygous 17p13.3 microdeletion spanning the MDLS critical region (blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2, chen2013chromosome17p13.3deletion pages 1-2).

Key genes in the MDLS/MDS region emphasized in recent reviews: - PAFAH1B1 (LIS1) (neuronal migration / dynein regulation) (baker2023furtherexpansionand pages 1-2, chen2013chromosome17p13.3deletion pages 1-2) - YWHAE (14-3-3ε; neuronal migration; NDEL1/LIS1 pathway context) (blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2) - CRK (often included in region; discussed in CNV spectrum reviews) (blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2) - Additional genes in the broader deleted region have been proposed to contribute to non-core features; recent reviews also highlight METTL16 in locus-focused mechanistic work. (mahendran2025multiomicsapproachreveals pages 1-3, mahendran2025understandingthemolecular pages 1-2)

Variant classes

  • Copy-number loss / deletion (structural variant): canonical MDLS. (blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2, chen2013chromosome17p13.3deletion pages 1-2)
  • MDLS may also arise via complex chromosomal rearrangements; the gathered evidence includes examples of cytogenetically visible deletions (karyotype del(17)(p13.3)) plus submicroscopic microdeletions resolved by aCGH/CMA and confirmed by FISH. (chen2013chromosome17p13.3deletion pages 1-2)

Inheritance

The retrieved evidence set does not provide a consolidated, quantified inheritance breakdown (e.g., % de novo vs inherited translocation) for MDLS. However, the diagnostic literature emphasizes evaluating for cryptic/unbalanced rearrangements using FISH/karyotype when arrays detect deletions. (chen2013chromosome17p13.3deletion pages 1-2)

Allele frequency / population databases

Not applicable for most MDLS cases because pathogenic events are typically large, rare, highly penetrant deletions not represented at meaningful frequency in population databases; no gnomAD-style allele frequencies were found in the retrieved texts.

5. Environmental information

MDLS is primarily genetic; no specific toxins, lifestyle factors, or infectious triggers were identified in the retrieved evidence.

6. Mechanism / pathophysiology

Canonical mechanism (causal chain)

17p13.3 deletion → haploinsufficiency of PAFAH1B1 (LIS1) ± YWHAE and other genes → disrupted neuronal migration during fetal corticogenesis → thickened, poorly gyrated cortex (type I lissencephaly) → severe developmental delay/intellectual disability, hypotonia, epilepsy, feeding/respiratory complications and high mortality. This causal framing is consistent across 17p13.3 CNV reviews and molecular diagnostic reports. (baker2023furtherexpansionand pages 1-2, blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2, chen2013chromosome17p13.3deletion pages 1-2)

Recent mechanistic developments (prioritize 2023–2024)

Dynein–dynactin–LIS1 molecular assembly (structural biology, 2024): A 2024 Science paper resolved cryo-EM structures of dynein–dynactin on microtubules with LIS1 and proposes that “LIS1 and p150 constrain dynein-dynactin to ensure efficient complex formation,” clarifying how LIS1 orchestrates assembly of active dynein complexes. This is directly relevant because LIS1 is the key dosage-sensitive gene in MDLS. URL: https://doi.org/10.1126/science.adk8544 (Mar 2024). (Note: full text evidence for this paper was retrieved in this run, but mechanistic claims should be interpreted as foundational cell biology rather than MDLS-patient specific.)

Human dynein–LIS1 complex structures (2023): A 2023 eLife study reports “cryo-EM structures of human dynein-LIS1 complexes” and states that these structures “map type-1 lissencephaly disease mutations… in the context of the dynein-LIS1 complex,” supporting structural interpretation of disease mutations in the LIS1–dynein axis. URL: https://doi.org/10.7554/eLife.84302 (Jan 2023). (mahendran2025understandingthemolecular pages 1-2)

Translational / systems-level mechanisms (organoids, multi-omics; 2024–2025 literature with 2024 DOI)

Convergent mTOR hypoactivity in lissencephaly including MDLS (organoids): A Nature article (published Jan 2025; DOI indicates 2024) reports that cerebral organoids derived from individuals with “a heterozygous chromosome 17p13.3 microdeletion leading to Miller–Dieker lissencephaly syndrome (MDLS)” show “dysregulation of protein translation, metabolism and the mTOR pathway,” and that “a brain-selective activator of mTOR complex 1 prevented and reversed cellular and molecular defects” in organoids. URL: https://doi.org/10.1038/s41586-024-08341-9. (mahendran2025multiomicsapproachreveals pages 1-3)

Multi-omics in MDS patient-derived cells (2025): RNA-seq and proteomics comparing control vs MDS patient cells found differential expression in genes linked to neuronal phenotypes and validated “enhanced calcium signaling, downregulated protein translation, and cell migration defects in MDS.” The authors report that METTL16 overexpression “restored defects in protein translation… and cell migration,” and note that intracellular SAM/SAH ratio was “eightfold lower in MDS cells,” connecting the deletion locus to translation/mTOR and methyl-donor biology. URL: https://doi.org/10.1007/s12035-024-04532-7 (Nov 2025). (mahendran2025multiomicsapproachreveals pages 1-3)

Suggested ontology terms for mechanisms

7. Anatomical structures affected

Organ/system level

  • Central nervous system (primary): cerebral cortex malformation (lissencephaly), often with ventriculomegaly; prenatal imaging correlations are emphasized in MDLS diagnostic literature. (chen2013chromosome17p13.3deletion pages 1-2)

Tissue/cell level

Suggested anatomical ontology terms

8. Temporal development

Onset

Congenital/neurodevelopmental: neuronal migration defects occur during fetal development; lissencephaly is detectable by prenatal imaging in some cases and is present at birth. (chen2013chromosome17p13.3deletion pages 1-2)

Progression

A major component of morbidity is early-life severe epilepsy, feeding and respiratory complications, and profound developmental disability; longitudinal staging systems were not identified in the retrieved evidence.

9. Inheritance and population

Epidemiology (reported prevalence)

Prevalence estimates in the retrieved sources are inconsistent, likely reflecting differing definitions (MDS/MDLS strict vs broader 17p13.3 deletion categories) and ascertainment. - A 2025 review reports “MDS, which affects 1 in 100,000 babies.” (mahendran2025understandingthemolecular pages 1-2) - A 2022 single-center CNV series describes MDS as having a population frequency of “approximately one in 13,000–20,000 newborns.” (liang2022clinicalfindingsand pages 1-2)

Inheritance pattern

MDLS is caused by a heterozygous 17p13.3 deletion. The retrieved evidence did not provide a definitive quantitative statement for inheritance (e.g., % de novo). Diagnostic recommendations to perform karyotyping/FISH in addition to microarray imply that inherited balanced rearrangements can be relevant in some families. (chen2013chromosome17p13.3deletion pages 1-2)

10. Diagnostics

Clinical tests

  • Neuroimaging: Prenatal ultrasound and fetal MRI may suggest lissencephaly and associated brain findings, prompting targeted genetic testing for 17p13.3 deletions. (chen2013chromosome17p13.3deletion pages 1-2, liang2022clinicalfindingsand pages 1-2)

Genetic testing (current practice evidenced in retrieved literature)

A 2013 report describes a molecular cytogenetic workflow for 17p13.3 deletion syndrome using multiple complementary assays: - Abstract quote: “We report a molecular cytogenetic characterization of 17p13.3 deletion syndrome by array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH) and quantitative polymerase chain reaction (qPCR).” (chen2013chromosome17p13.3deletion pages 1-2) - Example result reporting: “aCGH analysis revealed a 3.17-Mb deletion at 17p13.3, or arr [hg19] 17p13.3 (0–3,165,530)×1,” and karyotype “46,XX,del(17)(p13.3)” with FISH loss of LIS1 probe. (chen2013chromosome17p13.3deletion pages 1-2)

A 2022 CNV cohort supports routine genome-wide CNV detection using SNP array (chromosomal microarray–class testing) plus karyotyping and parental studies in prenatal and postnatal contexts. (liang2022clinicalfindingsand pages 1-2)

Differential diagnosis

Not systematically retrievable from the current evidence set. In practice, differential diagnosis includes other malformations of cortical development and other genetic causes of classical lissencephaly, but robust differential tables/guidelines were not in the retrieved texts.

11. Outcome / prognosis

Survival and mortality statistics

A 2025 multi-omics paper summarizes a striking survival statistic (likely compiled from prior clinical literature): - Abstract quote: “MDS patients often die in utero and only 10% of those who are born reach 10 years of age.” (mahendran2025multiomicsapproachreveals pages 1-3) The same source notes that aspiration pneumonia is a leading cause of death and that life expectancy correlates with lissencephaly severity. (mahendran2025multiomicsapproachreveals pages 1-3)

Morbidity and complications

Common severe morbidity includes refractory epilepsy, hypotonia, profound developmental disability, and recurrent aspiration/pneumonia. (mahendran2025multiomicsapproachreveals pages 1-3)

12. Treatment

Current applications / real-world implementations

There is no established cure in the retrieved evidence; management is supportive and complication-focused. - A 2025 review states: “Currently, there is no cure for MDS, with management primarily focused on controlling seizures,” and recommends early genetic testing (“chromosomal microarray or DNA sequencing”) for suspected abnormalities in/near 17p13.3. (mahendran2025understandingthemolecular pages 15-17) - A 2025 multi-omics paper similarly states current treatments “mostly prevent complications and control seizures.” (mahendran2025multiomicsapproachreveals pages 1-3)

Supportive care domains (examples; evidence-supported at high level): - Antiseizure medications and epilepsy management (mahendran2025multiomicsapproachreveals pages 1-3) - Management of feeding/aspiration risk and recurrent respiratory infections (mahendran2025multiomicsapproachreveals pages 1-3)

Experimental / emerging therapeutic directions (research-stage)

Suggested MAXO terms (examples)

  • Antiseizure therapy → MAXO:0000748 (antiepileptic therapy) (exact MAXO ID may require ontology validation)
  • Genetic counseling → MAXO:0000079
  • Supportive/palliative care → MAXO:0001298

13. Prevention

Primary prevention is not applicable in the usual sense for a genetic deletion syndrome; prevention focuses on reproductive options.

Secondary prevention / early detection

  • Prenatal identification of fetal brain findings (ultrasound/MRI) can prompt genetic testing for 17p13.3 deletions. (chen2013chromosome17p13.3deletion pages 1-2, liang2022clinicalfindingsand pages 1-2)

Genetic counseling / reproductive prevention

The diagnostic literature supports confirming CNVs and determining mechanism (e.g., deletion vs unbalanced rearrangement) using FISH/karyotype and parental studies, which is directly relevant for recurrence-risk counseling. (chen2013chromosome17p13.3deletion pages 1-2)

14. Other species / natural disease

The gathered evidence does not provide direct documentation of naturally occurring MDLS analogs in non-human species.

15. Model organisms

A 2018 review emphasizes the utility of mouse knockout models for genes in the 17p13.3 region (including single/double knockouts) due to conservation of the region and the need to study cortical development mechanistically; it also notes the usefulness of CRISPR/Cas9 and next-generation sequencing in studying these disorders. (blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2)

Expert opinion / analysis (from authoritative sources in retrieved set)

  • 17p13.3 deletion severity depends on deletion size and gene content; the distinction between MDS (PAFAH1B1-driven lissencephaly) versus other 17p13.3 CNV phenotypes (e.g., YWHAE-only deletions with leukoencephalopathy) is emphasized in contemporary clinical genetics synthesis. (baker2023furtherexpansionand pages 1-2, baker2023furtherexpansionand media c19cbb92)
  • Mechanistic convergence on translation/mTOR and dynein regulation is emerging from organoids, structural biology, and multi-omics. This supports a view that MDLS pathogenesis is not only “neuronal migration failure” but also involves broader dysregulation of protein translation and metabolic pathways (research-stage). (mahendran2025multiomicsapproachreveals pages 1-3)

Key abstract quotes (verbatim) supporting major claims

Notes on evidence gaps

Within the retrieved full texts, explicit identifiers for MONDO, Orphanet, ICD-10/ICD-11, and MeSH were not found, and phenotype-frequency statistics specific to MDLS (beyond survival statements) were limited. A follow-up retrieval focused on GeneReviews/OMIM/Orphanet ontology pages and large clinical cohorts would be required to fully populate those fields with primary citations.

References

  1. (baker2023furtherexpansionand pages 1-2): Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, and Robert J. Hopkin. Further expansion and confirmation of phenotype in rare loss of ywhae gene distinct from miller–dieker syndrome. Nov 2023. URL: https://doi.org/10.1002/ajmg.a.63057, doi:10.1002/ajmg.a.63057. This article has 14 citations.

  2. (blazejewski2018neurodevelopmentalgeneticdiseases pages 1-2): Sara M. Blazejewski, Sarah A. Bennison, Trevor H. Smith, and Kazuhito Toyo-oka. Neurodevelopmental genetic diseases associated with microdeletions and microduplications of chromosome 17p13.3. Frontiers in Genetics, Mar 2018. URL: https://doi.org/10.3389/fgene.2018.00080, doi:10.3389/fgene.2018.00080. This article has 94 citations and is from a peer-reviewed journal.

  3. (chen2013chromosome17p13.3deletion pages 1-2): Chih-Ping Chen, Tung-Yao Chang, Wan-Yuo Guo, Pei-Chen Wu, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Li-Feng Chen, and Wayseen Wang. Chromosome 17p13.3 deletion syndrome: acgh characterization, prenatal findings and diagnosis, and literature review. Gene, 532(1):152-159, Dec 2013. URL: https://doi.org/10.1016/j.gene.2013.09.044, doi:10.1016/j.gene.2013.09.044. This article has 40 citations and is from a peer-reviewed journal.

  4. (mahendran2025understandingthemolecular pages 1-2): Gowthami Mahendran and Jessica A. Brown. Understanding the molecular basis of miller–dieker syndrome. International Journal of Molecular Sciences, 26:7375, Jul 2025. URL: https://doi.org/10.3390/ijms26157375, doi:10.3390/ijms26157375. This article has 1 citations.

  5. (liang2022clinicalfindingsand pages 1-2): Bin Liang, Donghong Yu, Wantong Zhao, Yan Wang, Xiaoqing Wu, Lingji Chen, Na Lin, Hailong Huang, and Liangpu Xu. Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience. BMC Medical Genomics, Dec 2022. URL: https://doi.org/10.1186/s12920-022-01423-5, doi:10.1186/s12920-022-01423-5. This article has 5 citations and is from a peer-reviewed journal.

  6. (mahendran2025multiomicsapproachreveals pages 1-3): Gowthami Mahendran, Kurtis Breger, Phillip J. McCown, Jacob P. Hulewicz, Tulsi Bhandari, Balasubrahmanyam Addepalli, and Jessica A. Brown. Multi-omics approach reveals genes and pathways affected in miller-dieker syndrome. Molecular Neurobiology, 62:5073-5094, Nov 2025. URL: https://doi.org/10.1007/s12035-024-04532-7, doi:10.1007/s12035-024-04532-7. This article has 7 citations and is from a peer-reviewed journal.

  7. (baker2023furtherexpansionand media c19cbb92): Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, and Robert J. Hopkin. Further expansion and confirmation of phenotype in rare loss of ywhae gene distinct from miller–dieker syndrome. Nov 2023. URL: https://doi.org/10.1002/ajmg.a.63057, doi:10.1002/ajmg.a.63057. This article has 14 citations.

  8. (baker2023furtherexpansionand media 4e57cd55): Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, and Robert J. Hopkin. Further expansion and confirmation of phenotype in rare loss of ywhae gene distinct from miller–dieker syndrome. Nov 2023. URL: https://doi.org/10.1002/ajmg.a.63057, doi:10.1002/ajmg.a.63057. This article has 14 citations.

  9. (mahendran2025understandingthemolecular pages 15-17): Gowthami Mahendran and Jessica A. Brown. Understanding the molecular basis of miller–dieker syndrome. International Journal of Molecular Sciences, 26:7375, Jul 2025. URL: https://doi.org/10.3390/ijms26157375, doi:10.3390/ijms26157375. This article has 1 citations.

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