Hypotonia, Infantile, With Psychomotor Retardation; Ihpmr
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
Clinical FeaturesTop most frequent phenotypes and symptoms related to Hypotonia, Infantile, With Psychomotor Retardation; Ihpmr
- Global developmental delay
- Generalized hypotonia
- Motor delay
- 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.
Accelerate your rare disease diagnosis with us
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47 FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1 DENTAL ANOMALIES AND SHORT STATURE; DASS 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48 FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3