Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Fusion of the left and right thalami, Seizure, Agenesis of corpus callosum |
OMIM:617542 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
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Seizure, Decreased thalamic volume |
OMIM:613668 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
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Focal-onset seizure, Decreased thalamic volume, Myoclonic seizure |
OMIM:619072 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
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Decreased thalamic volume |
OMIM:618646 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
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Seizure, Thalamic calcification |
OMIM:618824 |
New-Onset Refractory Status Epilepticus |
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Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... |
ORPHA:363558 |
Oculoskeletodental Syndrome |
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Dysplastic corpus callosum, Hypercalcemia, Abnormal thalamus morphology, Hypocalcemia |
ORPHA:557003 |
Tubulinopathy-Associated Dysgyria |
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Startle-induced seizure, Abnormal thalamus morphology, Generalized non-motor (absence) seizure, I... |
ORPHA:467166 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
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T2 hypointense thalamus, Seizure, Myoclonus |
OMIM:618193 |
Alexander Disease Type I |
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Seizure, Palatal tremor, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Focal T2 hyperintense thalamic lesion, Myoclonus |
OMIM:619057 |
Coasy Protein-Associated Neurodegeneration |
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Abnormal thalamus morphology |
ORPHA:397725 |
Familial Acute Necrotizing Encephalopathy |
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Abnormal thalamus morphology, Seizure, Gliosis |
ORPHA:88619 |
Spinocerebellar Ataxia With Epilepsy |
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Bilateral tonic-clonic seizure with focal onset, Focal T2 hyperintense thalamic lesion, Myoclonus |
ORPHA:254881 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Thalamic calcification |
OMIM:615483 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
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Generalized myoclonic seizure, Seizure, Focal impaired awareness seizure, T2 hypointense thalamus |
ORPHA:1947 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
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Thalamic calcification |
OMIM:618317 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
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Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Leptin Receptor Deficiency |
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Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Sandhoff Disease, Infantile Form |
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Bilateral tonic-clonic seizure, Abnormal thalamic MRI signal intensity, Myoclonic seizure, Seizur... |
ORPHA:309155 |
Cach Syndrome |
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Seizure, Lateral ventricle dilatation, T2 hypointense thalamus |
ORPHA:135 |
Panhypophysitis |
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Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... |
ORPHA:95513 |
Adenohypophysitis |
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Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency... |
ORPHA:95512 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal thalamus morphology |
ORPHA:404440 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Focal-onset seizure, Partial agenesis of the corpus callosum, Seizure, Lateral ventricle dilatati... |
ORPHA:300570 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Seizure, Focal T2 hyperintense thalamic lesion, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:79264 |
3P25.3 Microdeletion Syndrome |
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Generalized myoclonic seizure, Abnormal thalamus morphology, Bilateral tonic-clonic seizure, Gene... |
ORPHA:435638 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Seizure, Agenesis of corpus callosum, Decreased thalamic volume |
ORPHA:370959 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
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Focal T2 hyperintense thalamic lesion, Status epilepticus |
OMIM:619046 |
Chronic Bilirubin Encephalopathy |
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Seizure, Hypernatremia, Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Seizure, Hypernatremia, Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Seizure, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Japanese Encephalitis |
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Hyponatremia, Bilateral tonic-clonic seizure, Focal motor seizure, Focal T2 hyperintense thalamic... |
ORPHA:79139 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Seizure, Epileptic spasm, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Leigh Syndrome |
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Infantile spasms, Abnormal thalamic MRI signal intensity, Seizure, Gliosis, Status epilepticus, A... |
ORPHA:506 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Seizure, Abnormal thalamic MRI signal intensity, Myoclonus |
ORPHA:70595 |
Neuroferritinopathy |
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T2 hypointense thalamus, Palatal tremor, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
Tay-Sachs Disease |
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Typical absence seizure, Abnormal thalamic MRI signal intensity, Seizure, Gliosis, Focal impaired... |
ORPHA:845 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Abnormal thalamus morphology |
ORPHA:2959 |
Aceruloplasminemia |
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Decreased circulating copper concentration, Abnormal thalamic MRI signal intensity, Decreased ser... |
ORPHA:48818 |
Acute Disseminated Encephalomyelitis |
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Seizure, Abnormal thalamic MRI signal intensity, Atypical absence status epilepticus |
ORPHA:83597 |
Combined Oxidative Phosphorylation Defect Type 7 |
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Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Hydranencephaly |
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Seizure, Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Rhombencephalosynapsis |
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Fusion of the left and right thalami |
ORPHA:59315 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Fusion of the left and right thalami, Seizure |
OMIM:619306 |
Meningioma |
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Enlarged pituitary gland, Hemifacial spasm, Reduced circulating prolactin concentration, Neoplasm... |
ORPHA:2495 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Interhypothalamic adhesion, Agenesis of corpus callosum, Infantile spasms, Focal impaired awarene... |
OMIM:618929 |
Holoprosencephaly 7 |
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Partial agenesis of the corpus callosum, Panhypopituitarism, Seizure, Fusion of the left and righ... |
OMIM:610828 |
Craniopharyngioma |
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Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... |
ORPHA:54595 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Abnormality of the diencephalon |
ORPHA:2570 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thalamic hemorrhage, Seizure |
ORPHA:464321 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Seizure, Decreased thalamic volume |
ORPHA:168577 |
Duplication Of The Pituitary Gland |
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Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosum |
ORPHA:314621 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Seizure, Abnormality of the diencephalon |
ORPHA:2720 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Abnormality of the diencephalon |
ORPHA:2165 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Hypothalamic atrophy, Seizure, Lateral ventricle dilatation |
ORPHA:2822 |
Bickerstaff Brainstem Encephalitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal hypothalamus morphology, Seizure |
ORPHA:68 |
Williams Syndrome |
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Abnormality of the diencephalon, Hypercalcemia |
ORPHA:904 |
Norrie Disease |
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Seizure, Abnormality of the diencephalon |
ORPHA:649 |