ORPHA:452
X-linked lissencephaly with abnormal genitalia
Also known as: X-linked lissencephaly with ambiguous genitalia · X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome · XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
157
55th percentile
Trials
0
Interventional, condition-specific
Researchers
937
Distinct authors in sample
Gene link
ARX
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies/ syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable , and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder with , behavioral abnormalities, and .
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:0010268
- MeSH:C564563
- OMIM:300215
- UMLS:C1846171
Additional Mondo synonyms (2)
X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome · lissencephaly, X-linked, type 2
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
Strong — ARX
- LiteraturePresent
157 matched papers (55 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 (ARX).
GenCC classification: Strong.
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?
157
157 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
157 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).
55 in the last 10 years · high confidence · 55th percentile (publications denominator)
Phrase hits: 157 · MeSH hits: 0
Who's working on it?
937
Distinct author names in 157 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.
- 01Dobyns WB12 papers · 2017
Departments of Pediatrics and Neurology, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Papers in Europe PMC - 02Shoubridge C8 papers · 2019
Department of Paediatrics, University of Adelaide Adelaide, South Australia, 5006, Australia ; Robinson Research Institute, University of Adelaide Adelaide, South Australia, 5006, Australia.
Papers in Europe PMC - 03Golden JA7 papers · 2016
Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
Papers in Europe PMC - 04Kato M7 papers · 2016
Department of Pediatrics, Yamagata University Faculty of Medicine Yamagata, Japan.
Papers in Europe PMC - 05Marsh ED6 papers · 2020
Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. marshe@email.chop.edu.
Papers in Europe PMC - 06Curie A5 papers · 2026
Centre de Référence « Déficiences Intellectuelles de Causes Rares », Hôpital Femme Mère Enfant, Hospices Civils de Lyon, F-69677 Bron, France. aurorecurie@yahoo.fr.
Papers in Europe PMC - 07Friocourt G5 papers · 2026
Department of Cell and Developmental Biology, University College London, London WC1E 6BT, United Kingdom.
Papers in Europe PMC - 08Guerrini R5 papers · 2017
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 - 09Itoh M5 papers · 2015
National Center of Neurology and Psychiatry, National Institute of Neuroscience, Tokyo, Japan.
Papers in Europe PMC - 10Kitamura K5 papers · 2013
Mitsubishi Kagaku Institute of Life Sciences, Tokyo, Japan.
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 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.
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.
"X-linked lissencephaly with abnormal genitalia" OR "X-linked lissencephaly with ambiguous genitalia" OR "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" OR "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" OR "X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome" OR "X-linked lissencephaly-agenesis of corpus callosum-genital anomalies syndrome" OR "lissencephaly, X-linked, type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked lissencephaly with abnormal genitalia" OR "X-linked lissencephaly with ambiguous genitalia" OR "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" OR "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" OR "X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome" OR "X-linked lissencephaly-agenesis of corpus callosum-genital anomalies syndrome" OR "lissencephaly, X-linked, type 2" OR "ARX" OR "lissencephaly spectrum disorders"
Recall-expansion terms: ARX, lissencephaly spectrum disorders
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T13:53:03.224Z