| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Flaccidity of muscle (finding) |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Floppy muscles |
Is a |
False |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Muscle tone atonic (finding) |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Neonatal hypotonia |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Acquired hypotonia |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994. |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Cystinuria, type 1 |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia. |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Benign congenital hypotonia |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Hypotonic-hyporesponsive episode (finding) |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Allan-Herndon-Dudley syndrome |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients. |
Is a |
True |
Poor 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 |
Poor 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 |
Poor 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 |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination. |
Is a |
True |
Poor 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 |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. |
Is a |
True |
Poor 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 |
Poor 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 |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Appendicular hypotonia |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Episodic hypotonia |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Hypotonia of axial muscles occurring in infancy |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Hypotonia of muscles of mouth region (finding) |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Hypotonia of muscle of face |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
| Severe hypotonia of muscle (finding) |
Is a |
True |
Poor muscle tone (finding) |
Inferred relationship |
Some |
|
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