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

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.

Also known as: IHPMR, hypotonia, infantile, with psychomotor retardation

4 clinical trials for this condition and its sub-types, 0 tagged with Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome itself.