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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616816
Orphanet:467176
UMLS:C4225196
MONDO:0014784
High level summary of knowledge for a disease, including descriptions and datasource references.