ORPHA:466791
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Publications
8,470
Trials
0
Interventional, condition-specific
Researchers
209
Distinct authors in sample
Gene link
NONO
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Macrocephaly--left ventricular non compaction syndrome is a rare, genetic, syndromic characterized by motor and cognitive with language impairment, macrocephaly, , facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction . Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including , tremor and hyperreflexia) may be associated, as well as , autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.
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:0010501
- OMIM:300967
- UMLS:C4225417
Additional Mondo synonyms (12)
MRXS34 · MRXSML · NONO X-linked syndromic intellectual disability · X-linked syndromic intellectual disability caused by mutation in NONO · intellectual developmental disorder, X-linked syndromic 34 · intellectual disability, X-linked, syndromic 34 · intellectual disability, X-linked, syndromic type 34 · macrocephaly-intellectual disability-left ventricular non compaction syndrome · mental retardation, X-linked, syndromic 34 · mental retardation, X-linked, syndromic type 34 · syndromic X-linked intellectual disability Mircsof-Langouet type · syndromic X-linked intellectual disability type 34
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
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 — NONO
- LiteraturePresent
8,470 matched papers (6,133 in last 10 years) Source
- Phenotype characterisedPresent
142 HPO annotations (e.g. Narrow nasal bridge; Prominent nose; Strabismus) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (NONO).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
142
Associated phenotypes · MONDO:0010501
- Narrow nasal bridge
- Prominent nose
- Strabismus
- Mild intellectual disability
- Generalized hypotonia
Showing 5 of 142 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
8,470
8,470 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
8,470 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).
6,133 in the last 10 years · low confidence
Phrase hits: 27 · MeSH hits: 0
Who's working on it?
209
Distinct author names in 27 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.
- 01Coetzer KC2 papers · 2022
Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa.
Papers in Europe PMC - 02Ding H2 papers · 2026
Department of Medical Genetic Centre of Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
Papers in Europe PMC - 03Hsu CI2 papers · 2026
Virginia Tech Fralin Biomedical Research Institute Cancer Research Center DC, Children's National Research & Innovation Campus, Washington, DC, USA; Graduate Program in Biomedical and Veterinary Sciences (BMVS), Virginia Tech, Blacksburg, VA, USA.
Papers in Europe PMC - 04Huang R2 papers · 2026
Department of Medical genetics and prenatal diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College), Shenzhen, Guangdong, China.
Papers in Europe PMC - 05Li N2 papers · 2026Papers in Europe PMC
- 06Liu J2 papers · 2026
Department of Ultrasonography, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College), Shenzhen, Guangdong, China.
Papers in Europe PMC - 07Liu W2 papers · 2026
Department of Genetic Laboratory, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College), Shenzhen, Guangdong, China.
Papers in Europe PMC - 08Moosa S2 papers · 2022
Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa.
Papers in Europe PMC - 09Wu L2 papers · 2026
Department of Medical genetics and prenatal diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College), Shenzhen, Guangdong, China.
Papers in Europe PMC - 10Wu S2 papers · 2026
Department of Medical genetics and prenatal diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College), Shenzhen, Guangdong, China.
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.
low 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Macrocephaly-intellectual disability-left ventricular non compaction syndrome — check Associations / patient organisations on that page.
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.
("Macrocephaly-intellectual disability-left ventricular non compaction syndrome" OR "MRXS34" OR "MRXSML" OR "NONO X-linked syndromic intellectual disability" OR "X-linked syndromic intellectual disability caused by mutation in NONO" OR "intellectual developmental disorder, X-linked syndromic 34" OR "intellectual disability, X-linked, syndromic 34" OR "intellectual disability, X-linked, syndromic type 34" OR "mental retardation, X-linked, syndromic 34" OR "mental retardation, X-linked, syndromic type 34" OR "syndromic X-linked intellectual disability Mircsof-Langouet type" OR "syndromic X-linked intellectual disability type 34") OR ("NONO" OR "NONO syndrome" OR "NONO-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Macrocephaly-intellectual disability-left ventricular non compaction syndrome" OR "MRXS34" OR "MRXSML" OR "NONO X-linked syndromic intellectual disability" OR "X-linked syndromic intellectual disability caused by mutation in NONO" OR "intellectual developmental disorder, X-linked syndromic 34" OR "intellectual disability, X-linked, syndromic 34" OR "intellectual disability, X-linked, syndromic type 34" OR "mental retardation, X-linked, syndromic 34" OR "mental retardation, X-linked, syndromic type 34" OR "syndromic X-linked intellectual disability Mircsof-Langouet type" OR "syndromic X-linked intellectual disability type 34"
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
- Publication count (8470) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T17:01:51.365Z