Disease association ontology term - MONDO:0014784 - severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Term summary
- ID
- MONDO:0014784
- Name
- severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- Ontology or CV name
- Disease association
- 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.
