Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Decreased gastric tonus |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
On examination - muscle tone hypotonic |
Associated finding |
False |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
1 |
Traumatic hypotonia (disorder) |
Has definitional manifestation |
False |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
On examination - muscle tone hypotonic |
Is a |
False |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
Decreased muscle tone - right side more than left side (finding) |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
Decreased muscle tone - left side more than right side (finding) |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
Benign congenital hypotonia |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
Traumatic hypotonia (disorder) |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
Allan-Herndon-Dudley syndrome |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures. |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age. |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported. |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy. |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|
Episodic hypotonia |
Is a |
True |
Decreased muscle tone (finding) |
Inferred relationship |
Some |
|