Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Arteriopathic granular atrophy of cerebral cortex (disorder) |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Circumscribed atrophy of brain |
Is a |
False |
Cerebral atrophy |
Inferred relationship |
Some |
|
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Pick's disease |
Is a |
False |
Cerebral atrophy |
Inferred relationship |
Some |
|
Atrophy of corpus callosum |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Acquired cerebral atrophy (disorder) |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Progressive focal cortical atrophy |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex gray and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures. |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
A rare, genetic, neurometabolic disorder characterised by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. |
Is a |
False |
Cerebral atrophy |
Inferred relationship |
Some |
|
Huntington's chorea |
Is a |
False |
Cerebral atrophy |
Inferred relationship |
Some |
|
A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. |
Is a |
False |
Cerebral atrophy |
Inferred relationship |
Some |
|
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
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. |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life. |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Atrophy of cortex of occipital lobe (disorder) |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Atrophy of cortex of parietal lobe |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Atrophy of cortex of temporal lobe |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Atrophy of cortex of frontal lobe (disorder) |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Atrophy of hippocampus |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Atrophy of hypothalamus (disorder) |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Atrophy of caudate nucleus (disorder) |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Diffuse atrophy of cerebrum (disorder) |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|
Hemiatrophy of cerebral cortex |
Is a |
True |
Cerebral atrophy |
Inferred relationship |
Some |
|