| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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). |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterised by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioural abnormalities. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| A very rare complex hereditary spastic paraplegia with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalised skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| External ophthalmoplegia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Progressive external ophthalmoplegia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| A group of rare genetic neurodegenerative diseases with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
9 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
11 |
| Flaccid diplegia of upper limbs (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Spastic diplegia of upper limbs (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Diplegia of lower limbs (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Spastic monoplegia of upper limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Spastic monoplegia of lower limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Erb Duchenne palsy with neuropraxis due to traction birth trauma (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
9 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Functional monoparesis (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Functional paraparesis (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Functional hemiparesis (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. |
Interprets |
True |
Movement |
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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
8 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
9 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
9 |
| Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Brachial plexus palsy due to birth trauma |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Spastic paralysis due to intracranial birth injury |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Phrenic nerve paralysis as birth trauma |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Spastic paralysis due to birth injury |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Spastic paralysis due to spinal birth injury |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Klumpke-Déjerine paralysis as birth trauma |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Erb-Duchenne palsy as birth trauma |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Upward gaze deviation (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
8 |
| Monoplegia of leg dominant side as sequela of cerebrovascular disease (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Monoplegia of left dominant lower limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Monoplegia of left nondominant lower limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Monoplegia of right dominant lower limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Monoplegia of right nondominant lower limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Spastic hemiplegia of left dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Spastic hemiplegia of left nondominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Spastic hemiplegia of right dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Spastic hemiplegia of right nondominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Monoplegia of lower limb due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Monoplegia of left nondominant upper limb due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Monoplegia of right nondominant upper limb due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Monoplegia of upper limb due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Flaccid hemiplegia of left dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Flaccid hemiplegia of left nondominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Flaccid hemiplegia of right dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Flaccid hemiplegia of right nondominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Hemiplegia of left dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Hemiplegia of left nondominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Hemiplegia of right dominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Hemiplegia of right nondominant side (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Monoplegia of right upper limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Monoplegia of left upper limb (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Hemiplegia of nondominant side due to and following ischemic cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Hemiplegia of dominant side due to and following ischemic cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Monoplegia of upper limb due to and following ischemic cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
FHIR