ORPHA:85286
X-linked intellectual disability, Shashi type
Also known as: Syndromic X-linked intellectual disability type 11
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Clinical definition (Orphanet)
X-linked , Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
8
8 papers have ever been indexed 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=183) is 38.
8 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
7 in the last 10 years · high confidence · 26.2th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Probably — there is moderate evidence for RBMX.
GenCC classification: Moderate.
Who's working on it?
47
Distinct author names in 8 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.
- 01Alari V1 paper · 2022
Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, Milano, Italy.
Papers in Europe PMC - 02Allen A1 paper · 2015
Department of Biostatistics, Duke University Health Sciences, Durham, NC, USA.
Papers in Europe PMC - 03Auvinen P1 paper · 2021
Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
Papers in Europe PMC - 04Berry MN1 paper · 2015
Department of Pediatrics, Wake Forest University Health Sciences, Winston-Salem, NC, USA.
Papers in Europe PMC - 05Burgess DL1 paper · 2021
Roche Sequencing Solutions, Madison, WI, United States of America.
Papers in Europe PMC - 06Calzari L1 paper · 2022
Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, Milano, Italy.
Papers in Europe PMC - 07Cronin K1 paper · 2015
Center for Human Genome Variation, Duke University School of Medicine, Durham, NC, USA.
Papers in Europe PMC - 08Dennison BJC1 paper · 2021
Department of Craniofacial Biology, School of Dental Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Papers in Europe PMC - 09Dery KJ1 paper · 2024
The Dumont-UCLA Transplantation Center, Division of Liver and Pancreas Transplantation, Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Papers in Europe PMC - 10Ekholm JM1 paper · 2021
Pacific Biosciences, Menlo Park, CA, United States of America.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"X-linked intellectual disability, Shashi type" OR "Syndromic X-linked intellectual disability type 11" OR "MRXS11" OR "SMRXS" OR "Shashi X-linked intellectual disability syndrome" OR "Shashi X-linked mental retardation syndrome" OR "X-linked intellectual disability Shashi type" OR "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive" OR "intellectual disability, X-linked, syndromic 11, Shashi type"
MeSH descriptor terms unioned into the query: Orofaciodigital syndrome, Shashi type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked intellectual disability, Shashi type" OR "Syndromic X-linked intellectual disability type 11" OR "MRXS11" OR "SMRXS" OR "Shashi X-linked intellectual disability syndrome" OR "Shashi X-linked mental retardation syndrome" OR "X-linked intellectual disability Shashi type" OR "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive" OR "intellectual disability, X-linked, syndromic 11, Shashi type" OR "Orofaciodigital syndrome, Shashi type" OR "RBMX"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537135 OMIM:300238 UMLS:C1846145
Query health: suspect — strategies attempted: phrase, mesh, 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