ORPHA:371364
Hypotonia-speech impairment-severe cognitive delay syndrome
Also known as: Infantile hypotonia-psychomotor retardation-characteristic facies syndrome · IHPRF syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
55
52.4th percentile
Trials
0
Interventional, condition-specific
Researchers
638
Distinct authors in sample
Gene link
NALCN
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent (presenting at birth or in early infancy), severe global (with poor or absent speech, difficulty or inability to roll, sit or walk), profound , and . Additional manifestations include microcephaly, peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).
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:0014176
- UMLS:C4706556
Additional Mondo synonyms (4)
IHPRF · hypotonia, infantile, with psychomotor retardation and characteristic facies · hypotonia-speech impairment-severe cognitive delay syndrome · infantile hypotonia-psychomotor retardation-characteristic facies syndrome
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 — NALCN
- LiteraturePresent
55 matched papers (47 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 (NALCN).
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?
55
55 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.
55 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).
47 in the last 10 years · high confidence · 52.4th percentile (publications denominator)
Phrase hits: 55 · MeSH hits: 0
Who's working on it?
638
Distinct author names in 55 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.
- 01Monteil A4 papers · 2025
Institut de Génomique Fonctionnelle, CNRS UMR 5203, Universités Montpellier 1&2 Montpellier, France ; INSERM, U 661 Montpellier, France ; LabEx 'Ion Channel Science and Therapeutics' Montpellier, France.
Papers in Europe PMC - 02Liu Y3 papers · 2025
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 03Lory P3 papers · 2019
Institut de Génomique Fonctionnelle, CNRS UMR 5203, Universités Montpellier 1&2 Montpellier, France ; INSERM, U 661 Montpellier, France ; LabEx 'Ion Channel Science and Therapeutics' Montpellier, France.
Papers in Europe PMC - 04Bayrak-Toydemir P2 papers · 2025
From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston.
Papers in Europe PMC - 05Bhat V2 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 06Bruel AL2 papers · 2022
INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21079 Dijon, France.
Papers in Europe PMC - 07Carey JC2 papers · 2025
Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA.
Papers in Europe PMC - 08Chen L2 papers · 2022
State Key Laboratory of Membrane Biology, College of Future Technology, Institute of Molecular Medicine, Beijing Key Laboratory of Cardiometabolic Molecular Medicine, Peking University, 100871, Beijing, China. chenlei2016@pku.edu.cn.
Papers in Europe PMC - 09Cogné B2 papers · 2022
Department of Medical Genetics, CHU Nantes, 44093 Nantes, France; l'Institut du Thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
Papers in Europe PMC - 10Faivre L2 papers · 2022
INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21079 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 21000 Dijon, France.
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.
"Hypotonia-speech impairment-severe cognitive delay syndrome" OR "Infantile hypotonia-psychomotor retardation-characteristic facies syndrome" OR "IHPRF syndrome" OR "IHPRF" OR "hypotonia, infantile, with psychomotor retardation and characteristic facies"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypotonia-speech impairment-severe cognitive delay syndrome" OR "Infantile hypotonia-psychomotor retardation-characteristic facies syndrome" OR "IHPRF syndrome" OR "IHPRF" OR "hypotonia, infantile, with psychomotor retardation and characteristic facies" OR "NALCN"
Recall-expansion terms: NALCN
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 2026-07-27T14:59:47.812Z