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GTR Home > Conditions/Phenotypes > Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

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

Synonyms
Hypotonia, infantile, with psychomotor retardation
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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. [from ORDO]

Genes See tests for all associated and related genes

  • Also known as: C3orf19, HSPC212, IHPM, IHPMR, ctr1, CCDC174
    Summary: coiled-coil domain containing 174

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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