| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Monoplegia of upper limb due to and following ischemic cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Hemiplegia of nondominant side due to and following embolic cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Paraplegia due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Acute paralytic poliomyelitis, vaccine-associated |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Acute bulbar poliomyelitis caused by Human poliovirus 2 |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Acute bulbar poliomyelitis caused by Human poliovirus 1 |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Acute paralytic poliomyelitis caused by Human poliovirus 1 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Acute paralytic poliomyelitis caused by Human poliovirus 2 |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Acute paralytic poliomyelitis caused by Human poliovirus 3 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Congenital fibrosis of inferior rectus muscle (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| A rare complex spastic paraplegia with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| A rare pure or complex hereditary spastic paraplegia with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare genetic complex hereditary spastic paraplegia disorder with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype. Typical characteristics include childhood-onset of minimally progressive bilateral mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. Caused by heterozygous mutation in the ATL1 gene on chromosome 14q22. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Autosomal spastic paraplegia type 72 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare genetic neurological disease with characteristics of non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (for example perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| A rare complex hereditary spastic paraplegia with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare genetic peripheral neuropathy with characteristics of 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. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
9 |
| A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A complex hereditary spastic paraplegia with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
| A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare form of hereditary spastic paraplegia with characteristics of 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. Caused by homozygous or compound heterozygous mutation in the CYP2U1 gene on chromosome 4q25. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A very rare pure form of spastic paraplegia with characteristics of 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| Bilateral progressive external ophthalmoplegia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Hemiparesis of left side of face (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Hemiparesis of right side of face (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Autosomal dominant progressive external ophthalmoplegia type 5 |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Autosomal dominant progressive external ophthalmoplegia type 1 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Atypical progressive supranuclear palsy syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| X-linked complex hereditary spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| X-linked pure hereditary spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Progressive supranuclear palsy corticobasal syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Progressive supranuclear palsy progressive non fluent aphasia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Exophthalmic ophthalmoplegia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Monoparesis of lower limb |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Hemiplegia and/or hemiparesis following stroke |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Ophthalmoplegia due to diabetes mellitus (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Hemiparesis as late effect of cerebrovascular disease |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Monoplegia of arm dominant side as sequela of cerebrovascular disease |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
8 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Hereditary spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
8 |
| Autosomal dominant hereditary spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| X-linked hereditary spastic paraplegia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Autosomal recessive hereditary spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| 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. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Acquired horizontal gaze palsy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Ophthalmoplegia due to abetalipoproteinemia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Isolated acquired horizontal gaze palsy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Congenital horizontal gaze palsy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Isolated congenital horizontal gaze paresis |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Intermittent horizontal conjugate gaze deviation (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Intermittent upward gaze deviation (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Horizontal gaze preference (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Ophthalmoplegia due to and following Guillain-Barré syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
6 |
| Ophthalmoplegia due to neuropathy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Paralysis of downgaze |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Paralysis of upgaze (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Combined paralysis of upgaze and downgaze |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Wall-eyed bilateral internuclear ophthalmoplegia syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
10 |
| A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
8 |
| A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
8 |
| Vertical one-and-a-half syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
7 |
| A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Interprets |
True |
Movement |
Inferred relationship |
Some |
12 |
| Periodic alternating gaze deviation |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Ophthalmoplegia due to phytanic acid storage disease (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
5 |
| Sustained upward gaze deviation (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Sustained horizontal conjugate gaze deviation, contralateral type (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Sustained horizontal conjugate gaze deviation, ipsilateral type (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Sustained horizontal conjugate gaze deviation |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Paralytic shellfish poisoning |
Interprets |
True |
Movement |
Inferred relationship |
Some |
4 |
| Aspergillus clavatus tremors |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Tremor due to substance withdrawal (finding) |
Interprets |
True |
Movement |
Inferred relationship |
Some |
2 |
| Impairment of motor nerve function as a complication of cutaneous surgery |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
| Bobble-head doll syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Some |
1 |
| Amyotrophic lateral sclerosis with parkinsonism |
Interprets |
True |
Movement |
Inferred relationship |
Some |
3 |
FHIR