severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Findings
No curated finding names severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014784), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CryptorchidismHPOHP:0000028
- Delayed speech and language developmentHPOHP:0000750
- Global developmental delayHPOHP:0001263
- Hypoplasia of the corpus callosumHPOHP:0002079
- Lateral ventricle dilatationHPOHP:0006956
- Long faceHPOHP:0000276
- MyopathyHPOHP:0003198
- Open mouth
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CCDC174HGNC:28033
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
2 names
Resolves to: severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- Also called
- hypotonia, infantile, with psychomotor retardationIHPMR