| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Contusion of cerebellum due to birth trauma (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Traumatic hemorrhage of cerebellum due to birth trauma (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Focal traumatic hemorrhage of cerebellum (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Focal non-hemorrhagic contusion of cerebellum (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| Posterior inferior cerebellar artery syndrome |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Cerebellar pressure cone |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| Cerebellar laceration with concussion (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| 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 |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| Multiple focal injuries of cerebellum (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| Traumatic hemorrhage of cerebellum (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Neonatal spontaneous cerebellar hemorrhage (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Focal laceration of cerebellum (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| Primary glioblastoma multiforme of cerebellum (disorder) |
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 |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
6 |
| Thrombosis of left cerebellar artery (disorder) |
Finding site |
False |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Thrombosis of right cerebellar artery (disorder) |
Finding site |
False |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Autosomal dominant cerebellar ataxia type 2 |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Cerebellum present (finding) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Cerebellar infectious cyst |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Cerebellar granuloma |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Christianson syndrome |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Spinocerebellar ataxia due to vitamin E deficiency (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and gray matter, but no pontine involvement. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
3 |
| A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Cerebellar function test (procedure) |
Procedure site - Indirect (attribute) |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Finger-to-finger test |
Procedure site - Indirect (attribute) |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Finger-to-nose test |
Procedure site - Indirect (attribute) |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Heel-to-knee test |
Procedure site - Indirect (attribute) |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Amyotrophic lateral sclerosis with cerebellar dysfunction |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Amyotrophic lateral sclerosis with spinocerebellar ataxia (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Autoimmune cerebellar degeneration |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Autoimmune inflammation of cerebellum (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Primary medulloblastoma of cerebellum |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Primary malignant glioma of cerebellum |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Clinically isolated syndrome of cerebellum |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Fetal non-traumatic cerebellar hemorrhage |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Early neonatal non-traumatic cerebellar hemorrhage |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Drug-induced cerebellar ataxia |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Cerebellar ataxia caused by chemical |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Acquired cerebellar atrophy |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A form of pontocerebellar hypoplasia with characteristics of infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
4 |
| Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Nontraumatic edema of cerebellum (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Cerebellar edema |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Traumatic cerebellar edema |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Posterior cord syndrome due to Friedreich ataxia (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
4 |
| Hemangioblastoma of cerebellar (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Cerebellar ataxia with quadrupedal gait |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Non-progressive cerebellar ataxia |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Cerebellar ataxic gait |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Cerebellar gait |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
2 |
| Atrophy of pons and cerebellum (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Diffuse atrophy of cerebellum (disorder) |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| Cyst of cerebellar structure |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
| A rare cerebellar ataxia characterized by cerebellar inflammation caused by viral or bacterial infection-triggered, immune-mediated mechanisms. It mainly affects young children following an episode of usually viral infection (notably varicella), but sometimes also adults, mostly upon Epstein-Barr virus or mycoplasma infection. Affected individuals mainly present with acute-onset afebrile gait ataxia, meningeal signs, high intracranial pressure with or without extracerebellar manifestations (such as clouding of consciousness, seizures and altered mental status) or extracerebellar focal signs. Mild behavioral changes can also be present. Pleocytosis in cerebrospinal fluid is reported in the majority of the patients. |
Finding site |
True |
Cerebellar structure |
Inferred relationship |
Some |
1 |
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