ORPHA:89844
Lissencephaly syndrome, Norman-Roberts type
Also known as: Microlissencephaly type A
Publications
582
87.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,214
Distinct authors in sample
Gene link
RELN
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009760
- OMIM:257320
- UMLS:C0796089
Additional Mondo synonyms (4)
Norman-Roberts syndrome · lissencephaly 2 · lissencephaly 2 (Norman-Roberts type) · lissencephaly syndrome, Norman-Roberts type
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — RELN
- LiteraturePresent
582 matched papers (378 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (RELN).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
582
582 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
582 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
378 in the last 10 years · high confidence · 87.5th percentile (publications denominator)
Phrase hits: 582 · MeSH hits: 0
Who's working on it?
1,214
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Chen L4 papers · 2025
Department of Rehabilitation Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Dongcheng District, Beijing, 100730, China. pumch9887@163.com.
Papers in Europe PMC - 02Chen Y4 papers · 2025
The First Clinical Medical College of Lanzhou University, 730000 Lanzhou, Gansu, China.
Papers in Europe PMC - 03Zhang H4 papers · 2026
Artemisinin Research Center, Guangzhou University of Chinese Medicine, Guangzhou 510405, China; (H.D.); (L.Z.); (H.S.); (H.Z.); (S.Y.); (J.S.)
Papers in Europe PMC - 04Ahmad W3 papers · 2025
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Papers in Europe PMC - 05Arima D3 papers · 2021
Department of Cardiovascular Surgery, Tsukuba Memorial Hospital, 1187-299 Kaname, Tsukuba, Ibaraki, 300-2622, Japan.
Papers in Europe PMC - 06Badulescu OV3 papers · 2025
Department of Pathophysiology, Morpho-Functional Sciences (II), Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.
Papers in Europe PMC - 07Caviglia H3 papers · 2021
Department of Orthopaedic and Traumatology, General Hospital Dr. Juan A. Fernández, Ciudad Autónoma de Buenos Aires, Argentina.
Papers in Europe PMC - 08Nishi S3 papers · 2021
Department of Cardiovascular Surgery, Tsukuba Memorial Hospital, 1187-299 Kaname, Tsukuba, Ibaraki, 300-2622, Japan.
Papers in Europe PMC - 09Song J3 papers · 2026
Artemisinin Research Center, Guangzhou University of Chinese Medicine, Guangzhou 510405, China; (H.D.); (L.Z.); (H.S.); (H.Z.); (S.Y.); (J.S.)
Papers in Europe PMC - 10Suematsu Y3 papers · 2021
Department of Cardiovascular Surgery, Tsukuba Memorial Hospital, 1187-299 Kaname, Tsukuba, Ibaraki, 300-2622, Japan. suematus@tf7.so-net.ne.jp.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Lissencephaly syndrome, Norman-Roberts type" OR "Microlissencephaly type A" OR "Norman-Roberts syndrome" OR "lissencephaly 2" OR "lissencephaly 2 (Norman-Roberts type)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lissencephaly syndrome, Norman-Roberts type" OR "Microlissencephaly type A" OR "Norman-Roberts syndrome" OR "lissencephaly 2" OR "lissencephaly 2 (Norman-Roberts type)" OR "RELN" OR "lissencephaly spectrum disorders"
Recall-expansion terms: RELN, lissencephaly spectrum disorders
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T03:27:47.926Z