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.
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0019952
congenital myopathy
is_a
MONDO:0100547
cardiogenetic disease
is_a
IHPMR
exact
hypotonia, infantile, with psychomotor retardation
exact
SPAC140.04