ORPHA:467176
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Publications
84
53.6th percentile
Trials
0
Interventional, condition-specific
Researchers
464
Distinct authors in sample
Gene link
CCDC174
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Severe -psychomotor -strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic disorder characterized by a -onset of severe generalized associated with mild psychomotor delay, strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.
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:0014784
- OMIM:616816
- UMLS:C4225196
Additional Mondo synonyms (2)
IHPMR · hypotonia, infantile, with psychomotor retardation
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
Limited — CCDC174
- LiteraturePresent
84 matched papers (76 in last 10 years) Source
- Phenotype characterisedPresent
18 HPO annotations (e.g. Delayed speech and language development; Myopathy; Severe muscular hypotonia) 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?
Possibly — only limited evidence so far for CCDC174.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
18
Associated phenotypes · MONDO:0014784
- Delayed speech and language development
- Myopathy
- Severe muscular hypotonia
- Decreased fetal movement
- Neonatal hypotonia
Showing 5 of 18 — 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?
84
84 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=3967) is 59.
84 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).
76 in the last 10 years · high confidence · 53.6th percentile (publications denominator)
Phrase hits: 37 · MeSH hits: 0
Who's working on it?
464
Distinct author names in 37 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.
- 01Brodowski M5 papers · 2020
AQUA-Institute for Applied Quality Improvement and Research in Health Care, Maschmühlenweg 8-10, 37073 Goettingen, Germany.
Papers in Europe PMC - 02Marx I5 papers · 2020
Evaplan at the University Hospital of Heidelberg, Ringstrasse 19b, 69115 Heidelberg, Germany.
Papers in Europe PMC - 03Marx M5 papers · 2020
Evaplan at the University Hospital of Heidelberg, Ringstrasse 19b, 69115 Heidelberg, Germany.
Papers in Europe PMC - 04Nafula M5 papers · 2020
Institute of Health Policy, Management and Research, NHIF Building, 2nd Floor Ragati Road, Upperhill, P.O. Box 307-00202, Nairobi, Kenya.
Papers in Europe PMC - 05Szecsenyi J5 papers · 2020
Department of General Practice and Health Services Research, University of Heidelberg, Vossstrasse 2, 69115 Heidelberg, Germany ; AQUA-Institute for Applied Quality Improvement and Research in Health Care, Maschmühlenweg 8-10, 37073 Goettingen, Germany.
Papers in Europe PMC - 06Prytherch H4 papers · 2018
Evaplan at the University Hospital of Heidelberg, Ringstrasse 19b, 69115 Heidelberg, Germany.
Papers in Europe PMC - 07Kandie C3 papers · 2020
Head of Department of Standards and Regulatory Services, Ministry of Health, Nairobi, Kenya.
Papers in Europe PMC - 08Omogi I3 papers · 2020
Deutsche Gesellschaft für Internationale Zusammenarbeit (GIZ) GmbH, Health Programme, Kenya.
Papers in Europe PMC - 09Bhat V2 papers · 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 10Bruel AL2 papers · 2022
INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21079 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 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.
high 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 24 · after dedupe 24 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 24 · 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).
Uncertain / not reviewed (24)
- ctis·2025-520622-38-00·Authorised·Personalized antibiotic TREATment for febrile Urinary Tract Infections in children (TREAT-UTI study): multicenter randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-520611-14-00·Authorised·A Multicentric, Drug-Repositioning, Self Controlled Case Series (SCCS) Clinical Trial to Evaluate the Efficacy and Safety of Perampanel in Improving Behavioral Symptoms and Increasing the Quality of Life in Patients with White-Sutton syndrome (POGZ-Related Disorder)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519041-29-02·Authorised, ongoing·The effect of additional pre-extubational loading dose of caffeine-citrate
skipped — LLM skipped (--skip-llm)
- ctis·2024-515778-28-00·Authorised, ongoing·18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of Niemann-Pick type C disease and in late-infantile and juvenile-onset forms of GM1 gangliosidosis or GM2 gangliosidosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-518269-92-00·Authorised·Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease; Long-term follow-up of patients receiving commercially available Myozyme
skipped — LLM skipped (--skip-llm)
- ctis·2024-517759-11-00·Authorised·Impact of early proactive therapeutic drug monitoring on the durability and efficacy of infliximab therapy in pediatric inflammatory bowel disease: a multicenter open-label randomized-control trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-512715-42-00·Authorised, ongoing·The ADAPT Study: An Open-Label, Long-term Safety Study of INZ-701 in Patients with ENPP1 Deficiency and ABCC6 Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-514402-31-00·Cancelled·A Global, Multicenter, Single-arm, Matched External Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy
skipped — LLM skipped (--skip-llm)
- ctis·2024-517488-22-00·Authorised, ongoing·Prediction and prevention of infantile spasms in high risk children
skipped — LLM skipped (--skip-llm)
- ctis·2024-516263-92-00·Expired·A Phase 3, Randomized, Open-Label, Multicenter Study to Evaluate the Safety (Compared to Iron Sucrose), Efficacy and Pharmacokinetics of Ferumoxytol for the Treatment of Iron Deficiency Anemia (IDA) in Pediatrics Subjects with Chronic Kidney Disease (CKD)
skipped — LLM skipped (--skip-llm)
- ctis·2023-506761-65-00·Expired·A Two-Part, Seamless, Multi-Center, Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Patients With Spinal Muscular Atrophy
skipped — LLM skipped (--skip-llm)
- ctis·2024-514773-22-00·Expired·A French multicenter Phase 4 open label extension study of long-term safety and efficacy in patients with Pompe disease who previously participated in avalglucosidase development studies in France
skipped — LLM skipped (--skip-llm)
- ctis·2024-513859-33-00·Cancelled·An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Safety,
Pharmacokinetics, and Pharmacodynamics of Avalglucosidase Alfa in Treatment-naïve Pediatric Participants with Infantile-Onset Pompe Disease (IOPD)
skipped — LLM skipped (--skip-llm)
- ctis·2023-504419-34-00·Expired·A three-period multicenter study, with a randomized-withdrawal, double-blinded, placebo-controlled design to evaluate the clinical efficacy, safety and tolerability of MAS825 in patients with monogenic IL-18 driven autoinflammatory diseases, including NLRC4-GOF, XIAP deficiency, or CDC42 mutations.
skipped — LLM skipped (--skip-llm)
- ctis·2023-508926-91-00·Authorised, ongoing·Randomized multi-centre open-label non-inferiority phase 3 clinical trial for patients with a stage IV childhood renal tumour comparing upfront Vincristine, Actinomycin-D and Doxorubicin (VAD, standard arm) with upfront Vincristine, Carboplatin and Etoposide (VCE, experimental arm)
skipped — LLM skipped (--skip-llm)
- ctis·2023-503420-19-00·Cancelled·A prospective, randomized, double-blind, placebo-controlled, two-stage, multicenter study with an open-label extension period to investigate the efficacy and safety of NT 201 in the treatment of lower limb spasticity in children and adolescents with cerebral palsy
skipped — LLM skipped (--skip-llm)
- ctis·2023-507794-17-00·Expired·An Open-Label Study with Extension Phase to Evaluate the Efficacy and Safety of Perampanel Administered as an Adjunctive Therapy in Pediatric Subjects (Age 1 Month to Less Than 18 Years) With Childhood Epilepsy
skipped — LLM skipped (--skip-llm)
- ctis·2023-505161-81-00·Authorised, ongoing·A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients with Spinal Muscular Atrophy who Experienced a Plateau or Decline in Function After Gene Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2023-504508-26-00·Authorised, ongoing·A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Patients with Spinal Muscular Atrophy After Gene Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2022-501095-25-01·Authorised, recruiting·An Open-label Study to Evaluate the Safety, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Both ERT-experienced and ERT-naïve Pediatric Subjects with Infantile-onset Pompe Disease Aged 0 to <18 Years
skipped — LLM skipped (--skip-llm)
- ctis·2022-502332-39-00·Authorised, ongoing·Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT)
skipped — LLM skipped (--skip-llm)
- ctis·2023-504900-28-00·11·A Phase 1/2 Clinical Study of Intravenous Gene Transfer with an AAVrh10 Vector Expressing GALC in Krabbe Subjects Receiving Hematopoietic Stem Cell Transplantation (RESKUE)
skipped — LLM skipped (--skip-llm)
- ctis·2023-503382-29-00·Cancelled·ILLUMINATE-C: A Single Arm Study to Evaluate Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Lumasiran in Patients with Advanced Primary Hyperoxaluria Type 1 (PH1)
skipped — LLM skipped (--skip-llm)
- ctis·2022-500197-34-01·Authorised, ongoing·A Phase II double-blind multi-center, placebo-controlled trial, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP)
skipped — LLM skipped (--skip-llm)
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 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect 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.
("Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome" OR "IHPMR" OR "hypotonia, infantile, with psychomotor retardation") OR ("CCDC174" OR "CCDC174 syndrome" OR "CCDC174-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome" OR "IHPMR" OR "hypotonia, infantile, with psychomotor retardation"
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
Ingested 2026-07-27T17:03:28.729Z