Details of Disease

General Information of Disease (ID: DISPNZ8V)

• Disease Name: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
• Synonyms: hypotonia, infantile, with psychomotor retardation; IHPMR
• 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.
• Disease Hierarchy:
  DISMT2VZ: Cardiogenetic disease
  DISLSK9G: Congenital myopathy
  DISPNZ8V: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014784
  UMLS CUI: C4225196
  OMIM ID: 616816
  MedGen ID: 902080
  Orphanet ID: 467176

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCDC174	OTA0Z9RZ	Supportive	Autosomal recessive	[1]

References

• [1] CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. Hum Mol Genet. 2015 Nov 15;24(22):6485-91. doi: 10.1093/hmg/ddv357. Epub 2015 Sep 10.