ORPHA:163937
X-linked intellectual disability, Najm type
Also known as: MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
Publications
134
67th percentile
Trials
0
Interventional, condition-specific
Researchers
1,035
Distinct authors in sample
Gene link
CASK
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
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:0010417
- MeSH:C567466
- OMIM:300749
- UMLS:C2677903
Additional Mondo synonyms (6)
MICPCH syndrome · intellectual disability and microcephaly with pontine and cerebellar hypoplasia · mental retardation and microcephaly with PONTINE and cerebellar hypoplasia · mental retardation and microcephaly with pontine and cerebellar hypoplasia · mental retardation, X-linked, syndromic, Najm type · syndromic X-linked intellectual disability Najm type
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 — CASK
- LiteraturePresent
134 matched papers (104 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 (CASK).
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?
134
134 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.
134 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).
104 in the last 10 years · high confidence · 67th percentile (publications denominator)
Phrase hits: 134 · MeSH hits: 0
Who's working on it?
1,035
Distinct author names in 134 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.
- 01Mukherjee K10 papers · 2024
Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Roanoke, Virginia, United States.
Papers in Europe PMC - 02LaConte LEW8 papers · 2024
Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Roanoke, Virginia, United States.
Papers in Europe PMC - 03Srivastava S7 papers · 2024
Fralin Biomedical Research Institute at Virginia Tech Carilion, Roanoke, VA, USA.
Papers in Europe PMC - 04Tabuchi K7 papers · 2026
Department of Molecular and Cellular Physiology, Institute of Medicine, Academic Assembly, Shinshu University, Nagano, 390-8621, Japan. ktabuchi@shinshu-u.ac.jp.
Papers in Europe PMC - 05Kouyama-Suzuki E5 papers · 2026
Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Papers in Europe PMC - 06Kutsche K5 papers · 2022
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. kkutsche@uke.de.
Papers in Europe PMC - 07Okamoto N5 papers · 2017
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Papers in Europe PMC - 08Patel PA5 papers · 2024
Center for Neurobiology Research, Fralin Biomedical Research Institute at Virginia Tech Carilion, Roanoke, Virginia, United States.
Papers in Europe PMC - 09Shirai Y5 papers · 2026
Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Papers in Europe PMC - 10Tibbe D5 papers · 2025
Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
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. 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.
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.
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 recall expansion
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 intellectual disability, Najm type" OR "MICPCH" OR "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" OR "MICPCH syndrome" OR "intellectual disability and microcephaly with pontine and cerebellar hypoplasia" OR "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia" OR "mental retardation, X-linked, syndromic, Najm type" OR "syndromic X-linked intellectual disability Najm type"
MeSH descriptor terms unioned into the query: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked intellectual disability, Najm type" OR "MICPCH" OR "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" OR "MICPCH syndrome" OR "intellectual disability and microcephaly with pontine and cerebellar hypoplasia" OR "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia" OR "mental retardation, X-linked, syndromic, Najm type" OR "syndromic X-linked intellectual disability Najm type" OR "CASK"
Recall-expansion terms: CASK
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T08:14:57.608Z