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severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome (IHPMR) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

MONDO:0014784

Also known as:IHPMRhypotonia, infantile, with psychomotor retardation

Overview

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital 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.

GeneticsAutosomal recessive · CCDC174 (chr 3)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include sometimes findings: Increased variability in muscle fiber diameter. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	6	Myopathic facies, Myopathy, Severe muscular hypotonia
Brain and nerves

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CCDC174 encodes coiled-coil domain containing 174 (467 aa). Probably involved in neuronal development Highest expression in Ovary (33.8 TPM) and Uterus (31.0 TPM).

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is associated with mutations in the CCDC174 gene on chromosome 3.

CCDC174 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CCDC174 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome.

19 publications have been identified in PubMed for severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome. Research spans Case Report / Case Series (74%), Epidemiology / Natural History (11%), and Other (5%).

Research Type	Count	% of Total
Patient case studies	14	74%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616816

Orphanet

European rare disease database

Orphanet:467176

GARD

Genetic and Rare Diseases Info Center

GARD:17840

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications