ORPHA:397933
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Also known as: IQSEC2-related syndromic intellectual disability
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
23
35.6th percentile
Trials
0
Interventional, condition-specific
Researchers
291
Distinct authors in sample
Gene link
IQSEC2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic characterized by severe , non-inherited, , post-natal microcephaly, , hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include , and behavioral disturbances, such as self injury and unexplained crying episodes.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018347
- MONDO:0010656
- MeSH:C564489
- MeSH:C567906
- OMIM:309530
- UMLS:C2931498
- NCIT:C133729
Additional Mondo synonyms (10)
IQSEC2-related disorder · MRX · MRX1 · MRX78 · intellectual developmental disorder, X-linked 1, X-linked dominant · intellectual disability, X-linked 1 · mental retardation, X-linked 1 · mental retardation, X-linked 18 · mental retardation, X-linked 78 · mental retardation, X-linked type 1
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 — IQSEC2
- LiteraturePresent
23 matched papers (18 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 (IQSEC2).
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?
23
23 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.
23 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).
18 in the last 10 years · medium confidence · 35.6th percentile (publications denominator)
Phrase hits: 23 · MeSH hits: 0
Who's working on it?
291
Distinct author names in 23 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.
- 01Clayton-Smith J2 papers · 2020
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.
Papers in Europe PMC - 02de Vries BB2 papers · 2006Papers in Europe PMC
- 03Nordgren A2 papers · 2022
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Papers in Europe PMC - 04Renieri A2 papers · 2021
Medical Genetics, University of Siena, 53100 Siena, Italy.
Papers in Europe PMC - 05Turner G2 papers · 2017
The Genetics of Learning Disability Service, Waratah, New South Wales, Australia.
Papers in Europe PMC - 06Afawi Z1 paper · 2016
Tel Aviv Sourasky Medical Center6 Weizmann St.Tel AvivIsrael; Genetics of Epilepsy Research in Israel Tel-Aviv University Medical SchoolTel-AvivIsrael.
Papers in Europe PMC - 07Agoritsas T1 paper · 2025
Division of General Internal Medicine, Department of Medicine, Geneva University Hospitals, Geneva, Switzerland.
Papers in Europe PMC - 08Alexander E1 paper · 2020
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.
Papers in Europe PMC - 09Amaral DG1 paper · 2020
MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, CA, USA.
Papers in Europe PMC - 10Amberger JS1 paper · 1993Papers 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.
medium 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 name phrase
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.
"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" OR "IQSEC2-related syndromic intellectual disability" OR "IQSEC2-related disorder" OR "MRX78" OR "intellectual developmental disorder, X-linked 1, X-linked dominant" OR "intellectual disability, X-linked 1" OR "mental retardation, X-linked 1" OR "mental retardation, X-linked 18" OR "mental retardation, X-linked 78" OR "mental retardation, X-linked type 1"
MeSH descriptor terms unioned into the query: Mental Retardation, X-Linked 78; Mental Retardation, X-Linked 1
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" OR "IQSEC2-related syndromic intellectual disability" OR "IQSEC2-related disorder" OR "MRX78" OR "intellectual developmental disorder, X-linked 1, X-linked dominant" OR "intellectual disability, X-linked 1" OR "mental retardation, X-linked 1" OR "mental retardation, X-linked 18" OR "mental retardation, X-linked 78" OR "mental retardation, X-linked type 1" OR "IQSEC2"
Recall-expansion terms: IQSEC2
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MRX; MRX1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T15:14:45.463Z