Hypotonia, Infantile, With Psychomotor Retardation; Ihpmr

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypotonia, Infantile, With Psychomotor Retardation; Ihpmr

  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Motor delay
  • Cryptorchidism
  • Myopathy
  • Delayed speech and language development
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum
  • Muscular hypotonia of the trunk
And another 10 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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