| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
4 |
| 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 |
False |
Cerebellar structure |
Inferred relationship |
Some |
4 |
| 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 |
False |
Cerebellar structure |
Inferred relationship |
Some |
8 |
| Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. |
Finding site |
False |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. |
Finding site |
False |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Cerebellar liponeurocytoma (cLPN) is a rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. |
Finding site |
False |
Cerebellar structure |
Inferred relationship |
Some |
4 |
| A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Dentatorubropallidoluysian degeneration |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Fragile X associated tremor ataxia syndrome (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Chorea co-occurrent and due to dentatorubropallidoluysian degeneration (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. |
Finding site |
False |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. |
Finding site |
False |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. |
Finding site |
False |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
5 |
| A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. |
Finding site |
False |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A severe, genetic form of pontocerebellar hypoplasia (PCH) characterised by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, genetic, non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, figure of 8 midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Arnold Chiari type 2 without hydrocephalus |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Chiari malformation type IV |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Chiari malformation type II (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| Hydrocephalus due to Arnold Chiari malformation type 2 |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Chiari malformation type I |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Closed spina bifida with Arnold-Chiari malformation |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| Chiari malformation (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| A rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare, genetic, autosomal recessive spastic ataxia disease characterised by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leucoencephalopathy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Perinatal subependymal haemorrhage with intraventricular and intracerebral extension |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Saldino-Mainzer dysplasia |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
4 |
| Hindbrain structure |
Is a |
True |
Cerebellar structure |
Inferred relationship |
Some |
|
| Myoclonic epilepsy myopathy sensory ataxia (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
4 |
| A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
5 |
| A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia characterized by ataxia with sensory neuropathy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia, tremor and cognitive impairment. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Azorean disease, type I |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Azorean disease, type II |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Azorean disease, type III |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Azorean disease, type IV |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare neuronal ceroid lipofuscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Contusion of cerebellum due to birth trauma (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
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