| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
7 |
| Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
7 |
| Functional paraparesis (disorder) |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
5 |
| A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
7 |
| Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
5 |
| Autosomal spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
6 |
| Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A form of hereditary spastic ataxia characterised by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Paraplegia due to and following cerebrovascular accident (disorder) |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
7 |
| A rare complex hereditary spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A complex hereditary spastic paraplegia characterised by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
5 |
| A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| X-linked complex hereditary spastic paraplegia |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| X-linked pure hereditary spastic paraplegia |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
5 |
| Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
7 |
| Hereditary spastic paraplegia |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
5 |
| Autosomal dominant hereditary spastic paraplegia |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
5 |
| X-linked hereditary spastic paraplegia (disorder) |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
5 |
| Autosomal recessive hereditary spastic paraplegia |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
5 |
| A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
4 |
| A rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
3 |
| A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Aspiration of right lower limb using ultrasonographic guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| Drainage of right lower limb using fluoroscopic guidance (procedure) |
Procedure site - Indirect (attribute) |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| Aspiration of bilateral lower limbs using fluoroscopic guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Drainage of bilateral lower limbs using fluoroscopic guidance (procedure) |
Procedure site - Indirect (attribute) |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Aspiration of right lower limb using fluoroscopic guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| Aspiration of bilateral lower limbs using ultrasonographic guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
12 |
| A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
9 |
| Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
9 |
| Autosomal dominant complex hereditary spastic paraplegia (disorder) |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
5 |
| A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
9 |
| Injection of bilateral lower limbs using ultrasonographic guidance (procedure) |
Procedure site - Indirect (attribute) |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Injection of bilateral lower limbs using fluoroscopic guidance (procedure) |
Procedure site - Indirect (attribute) |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Injection of right lower limb using fluoroscopic guidance (procedure) |
Procedure site - Indirect (attribute) |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| Cellulitis of right lower limb (disorder) |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| Aspiration of right lower limb using fluoroscopic guidance (procedure) |
Procedure site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| Aspiration of right lower limb using ultrasonographic guidance (procedure) |
Procedure site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| Aspiration of bilateral lower limbs using ultrasonographic guidance (procedure) |
Procedure site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Aspiration of bilateral lower limbs using fluoroscopic guidance (procedure) |
Procedure site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Foreign body in right lower limb (disorder) |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| Bite wound of right lower limb (disorder) |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
| Congenital arteriovenous malformation of bilateral lower limbs (disorder) |
Finding site |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
2 |
| Drainage of right lower limb using ultrasonographic guidance (procedure) |
Procedure site - Indirect (attribute) |
True |
Structure of right lower limb (body structure) |
Inferred relationship |
Some |
1 |
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