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ORPHA:99796

Subcortical band heterotopia

high confidenceDisorder

Also known as: Subcortical laminar heterotopia

Publications

772

79.4th percentile

Trials

0

Interventional, condition-specific

Researchers

1,363

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, non-syndromic cerebral due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to with severe , and behavioral problems.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

double cortex syndrome · subcortical laminar heterotopia

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.”

3/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    772 matched papers (357 in last 10 years) Source

  3. Phenotype characterisedPresent

    63 HPO annotations (e.g. Flexion contracture; Generalized-onset seizure; Abnormal muscle tone) Source

  4. Animal modelPresent

    3 genotype models (Rattus norvegicus, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

63

Associated phenotypes · MONDO:0020491

  • Flexion contracture
  • Generalized-onset seizure
  • Abnormal muscle tone
  • Poor gross motor coordination
  • Agyria

Showing 5 of 63 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

772

772 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=3967) is 59.

772 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

357 in the last 10 years · high confidence · 79.4th percentile (publications denominator)

Phrase hits: 772 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,363

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.

  1. 01
    Dobyns WB8 papers · 2021

    Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.

    Papers in Europe PMC
  2. 02
    Guerrini R8 papers · 2023

    Department of Neuroscience, Pharmacology and Child Health, Children's Hospital A Meyer and University of Florence, Florence, Italy; Stella Maris Foundation Research Institute, Pisa, Italy. Electronic address: r.guerrini@meyer.it.

    Papers in Europe PMC
  3. 03
    Represa A8 papers · 2024

    Neurobiology Institute of the Mediterranean (INMED), Aix-Marseille University, French National Institute of Health and Medical Research (INSERM) UMR1249, Marseille, France.

    Papers in Europe PMC
  4. 04
    Watrin F8 papers · 2024

    Neurobiology Institute of the Mediterranean (INMED), Aix-Marseille University, French National Institute of Health and Medical Research (INSERM) UMR1249, Marseille, France.

    Papers in Europe PMC
  5. 05
    Di Donato N7 papers · 2026

    Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, 01307, Dresden, Germany.

    Papers in Europe PMC
  6. 06
    Buhler E6 papers · 2023

    Neurobiology Institute of the Mediterranean (INMED), Aix-Marseille University, French National Institute of Health and Medical Research (INSERM) UMR1249, Marseille, France.

    Papers in Europe PMC
  7. 07
    Manent JB6 papers · 2024

    Neurobiology Institute of the Mediterranean (INMED), Aix-Marseille University, French National Institute of Health and Medical Research (INSERM) UMR1249, Marseille, France.

    Papers in Europe PMC
  8. 08
    Liu Y5 papers · 2025

    Department of Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan Children's Hospital, Jinan, Shandong, China.

    Papers in Europe PMC
  9. 09
    Parrini E5 papers · 2021

    Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.

    Papers in Europe PMC
  10. 10
    Fortoul A4 papers · 2024

    INMED, INSERM, Aix-Marseille University, Turing Centre for Living Systems, Marseille 13009, France.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (9)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Subcortical band heterotopia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Subcortical band heterotopia" OR "Subcortical laminar heterotopia" OR "double cortex syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Subcortical band heterotopia" OR "Subcortical laminar heterotopia" OR "double cortex syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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 2026-07-27T06:17:56.398Z