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

Disease Summary
Associated Targets (1)
Tdark

1


Mondo Description 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.
Uniprot Description An autosomal recessive disorder characterized by congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects.
Mondo Term and Equivalent IDs
MONDO:0014784:  severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Orphanet:467176: 
UMLS:C4225196: