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.
Genes related to Hypotonia, Infantile, With Psychomotor Retardation; Ihpmr
- CCDC174
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
Incidence and onset information
— Not enough data available about incidence and published cases.
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