Joubert Syndrome 13 |
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Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia |
OMIM:614173 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
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Decreased thalamic volume |
OMIM:618646 |
Lennox-Gastaut Syndrome |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormal brai... |
ORPHA:2382 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Fusion of the left and right thalami, Agenesis of corpus callosum |
OMIM:617542 |
Coasy Protein-Associated Neurodegeneration |
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Abnormal thalamus morphology |
ORPHA:397725 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Molar tooth sign on MRI, Agene... |
ORPHA:166024 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
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Decreased thalamic volume |
OMIM:613668 |
Childhood Disintegrative Disorder |
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Social and occupational deterioration, Seizure, Dementia, Abnormal emotion, Progressive language ... |
ORPHA:168782 |
Oculoskeletodental Syndrome |
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Dysplastic corpus callosum, Abnormal thalamus morphology |
ORPHA:557003 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
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Thalamic calcification |
OMIM:618824 |
Female Restricted Epilepsy With Intellectual Disability |
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Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Thalamic calcification |
OMIM:615483 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
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Decreased thalamic volume |
OMIM:619072 |
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 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
Septopreoptic Holoprosencephaly |
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Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian p... |
ORPHA:280195 |
Coach Syndrome 2 |
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Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Portal ... |
OMIM:619111 |
Hsd10 Disease |
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Short attention span, Ataxia, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Abnormal soc... |
ORPHA:391417 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
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T2 hypointense thalamus |
OMIM:618193 |
Joubert Syndrome 36 |
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Molar tooth sign on MRI, Macrocephaly |
OMIM:618763 |
Alexander Disease Type I |
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Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Tubulinopathy-Associated Dysgyria |
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Abnormal thalamus morphology |
ORPHA:467166 |
Joubert Syndrome 32 |
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Large for gestational age, Abnormal cerebellum morphology, Macrocephaly, Molar tooth sign on MRI,... |
OMIM:617757 |
Leptin Receptor Deficiency |
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Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Joubert Syndrome 10 |
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Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Macrocephaly |
OMIM:300804 |
Cach Syndrome |
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T2 hypointense thalamus, Lateral ventricle dilatation |
ORPHA:135 |
Orofaciodigital Syndrome Xv |
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Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:617127 |
Spinocerebellar Ataxia With Epilepsy |
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Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
Panhypophysitis |
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Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Adenohypophysitis |
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Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Ataxia, Confusion, Seizure, Dementia, Semantic dementia, Myoclonus, Memory impairment, Abnormal s... |
ORPHA:1020 |
Slc35A2-Cdg |
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Cerebellar atrophy, Elevated hepatic transaminase, Cerebral white matter atrophy, Failure to thri... |
ORPHA:356961 |
Joubert Syndrome 25 |
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Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Partial agenesis of the corpus callosum, Abnormal thalamus morphology, Lateral ventricle dilatation |
ORPHA:300570 |
Joubert Syndrome 18 |
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Agenesis of cerebellar vermis, Ventricular septal defect, Intrahepatic biliary atresia, Molar too... |
OMIM:614815 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Abnormal thalamus morphology |
ORPHA:404440 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
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T2 hypointense thalamus |
ORPHA:1947 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Agenesis of corpus callosum, Decreased thalamic volume |
ORPHA:370959 |
Familial Acute Necrotizing Encephalopathy |
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Abnormal thalamus morphology |
ORPHA:88619 |
Joubert Syndrome 4 |
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Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
3P25.3 Microdeletion Syndrome |
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Abnormal thalamus morphology |
ORPHA:435638 |
Meckel Syndrome, Type 4 |
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Atrial septal defect, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Ane... |
OMIM:611134 |
Joubert Syndrome 3 |
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Atrial septal defect, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Lateral ventricle dil... |
OMIM:608629 |
New-Onset Refractory Status Epilepticus |
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Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Adult Krabbe Disease |
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Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Pr... |
ORPHA:206448 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
Joubert Syndrome 33 |
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Molar tooth sign on MRI, Splenomegaly, Macrocephaly |
OMIM:617767 |
Meckel Syndrome 13 |
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Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Joubert Syndrome 30 |
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Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
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Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Childhood Absence Epilepsy |
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Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Attention deficit hyperactiv... |
ORPHA:64280 |
Joubert Syndrome 6 |
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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Hepatic fibr... |
OMIM:610688 |
Hydrolethalus Syndrome 2 |
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Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum |
OMIM:614120 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Joubert Syndrome 22 |
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Molar tooth sign on MRI, Agenesis of cerebellar vermis, Temporal cortical atrophy, Hypoplasia of ... |
OMIM:615665 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Abnormal thalamus morphology |
ORPHA:2959 |
Joubert Syndrome 31 |
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Molar tooth sign on MRI, Hypoplasia of the corpus callosum |
OMIM:617761 |
Sandhoff Disease, Infantile Form |
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Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Neuroferritinopathy |
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T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
Combined Oxidative Phosphorylation Defect Type 7 |
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Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Al-Gazali-Bakalinova Syndrome |
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Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Macrocep... |
OMIM:607131 |
Japanese Encephalitis |
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Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology |
ORPHA:79139 |
Joubert Syndrome 40 |
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Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Joubert Syndrome 16 |
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Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Joubert Syndrome 37 |
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Hepatomegaly, Cerebellar vermis hypoplasia, Obesity, Hypoplasia of the corpus callosum, Molar too... |
OMIM:619185 |
Leigh Syndrome |
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Agenesis of corpus callosum, Abnormal thalamic MRI signal intensity |
ORPHA:506 |
Meckel Syndrome, Type 10 |
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Dilated fourth ventricle, Malformation of the hepatic ductal plate, Anencephaly, Cerebellar hypop... |
OMIM:614175 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Ventricular septal defe... |
OMIM:619306 |
Rhombencephalosynapsis |
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Fusion of the left and right thalami |
ORPHA:59315 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Coach Syndrome 3 |
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Molar tooth sign on MRI, Portal fibrosis |
OMIM:619113 |
Chronic Bilirubin Encephalopathy |
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Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Joubert Syndrome 27 |
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Molar tooth sign on MRI, Ataxia, Gait ataxia |
OMIM:617120 |
Joubert Syndrome 20 |
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Molar tooth sign on MRI, Inability to walk |
OMIM:614970 |
Joubert Syndrome 7 |
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Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Abnormal corpus callos... |
OMIM:611560 |
Metachromatic Leukodystrophy, Adult Form |
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Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Seiz... |
ORPHA:309271 |
Joubert Syndrome 9 |
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Molar tooth sign on MRI, Hepatic fibrosis |
OMIM:612285 |
Coach Syndrome 1 |
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Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Portal hypertension, A... |
OMIM:216360 |
Acute Disseminated Encephalomyelitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Joubert Syndrome 35 |
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Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
Cerebellar-Facial-Dental Syndrome |
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Failure to thrive, Ventricular septal defect, Abnormal midbrain morphology, Microcephaly, Hypopla... |
ORPHA:444072 |
Joubert Syndrome 28 |
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Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
Aceruloplasminemia |
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Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
Hydranencephaly |
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Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Metachromatic Leukodystrophy, Juvenile Form |
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Short attention span, Progressive psychomotor deterioration, Seizure, Progressive gait ataxia, Em... |
ORPHA:309263 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Abnormality of the diencephalon |
ORPHA:2570 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal medulla oblongata morphology, Ataxia, Confusion, Abnormal midbrain morphology, Abnormal ... |
ORPHA:68 |
Joubert Syndrome 2 |
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Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, Dysgenesis of th... |
OMIM:608091 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Absent septum pellucidum, Abnormal c... |
ORPHA:397715 |
Duplication Of The Pituitary Gland |
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Abnormal midbrain morphology, Microcephaly, Hypoplasia of olfactory tract, Decreased body weight,... |
ORPHA:314621 |
Joubert Syndrome 15 |
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Molar tooth sign on MRI, Ataxia |
OMIM:614464 |
Tay-Sachs Disease |
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Abnormal thalamic MRI signal intensity |
ORPHA:845 |
Meningioma |
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Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
Joubert Syndrome With Ocular Defect |
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Cerebellar vermis hypoplasia, Dextrocardia, Biparietal narrowing, Molar tooth sign on MRI, Polymi... |
ORPHA:220493 |
Joubert Syndrome 39 |
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Molar tooth sign on MRI, Overweight, Cerebellar vermis hypoplasia, Hypoplastic left heart |
OMIM:619562 |
Holoprosencephaly 7 |
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Fusion of the left and right thalami, Partial agenesis of the corpus callosum, Agenesis of corpus... |
OMIM:610828 |
Joubert Syndrome 8 |
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Molar tooth sign on MRI, Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Joubert Syndrome 1 |
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Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Microcephaly, H... |
OMIM:213300 |
Joubert Syndrome With Renal Defect |
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Cerebellar vermis hypoplasia, Biparietal narrowing, Molar tooth sign on MRI, Polymicrogyria, Agen... |
ORPHA:220497 |
Joubert Syndrome 14 |
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Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar vermis, Hypoplasi... |
OMIM:614424 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Interhypothalamic adhesion, Agenesis of corpus callosum |
OMIM:618929 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Abnormality of the diencephalon |
ORPHA:2165 |
Craniopharyngioma |
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Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... |
ORPHA:54595 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thalamic hemorrhage |
ORPHA:464321 |
Joubert Syndrome With Oculorenal Defect |
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Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Biparietal narrowing, Aplasia/Hypoplasia o... |
ORPHA:2318 |
Orofaciodigital Syndrome Vi |
|
Failure to thrive, Cerebellar vermis hypoplasia, Porencephalic cyst, Hypoplastic left heart, Mola... |
OMIM:277170 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Abnormal heart morpholog... |
ORPHA:2754 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume |
ORPHA:168577 |
Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Small for gestational age, Failure to thrive in infancy, Ataxia, Seizure, Gait disturbance, Inapp... |
OMIM:614104 |
Arima Syndrome |
|
Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... |
OMIM:243910 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Inability to walk, Ataxia |
OMIM:617563 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon |
ORPHA:2720 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Anencephaly, Hypoplasia of the brainstem, Hyp... |
OMIM:616546 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation |
ORPHA:2822 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Accessory spleen, Malformation of the hepatic ductal plate, Microcephal... |
OMIM:249000 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Hypop... |
OMIM:619479 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia |
OMIM:619476 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Relative macrocephaly, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker m... |
OMIM:616300 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus... |
ORPHA:434179 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Part... |
OMIM:615948 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:277900 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Obesity, Depression, Seizure, Impaired social interactions, Emotion... |
ORPHA:293987 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, A... |
OMIM:610188 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Simple febrile seizure, Abnormal brainstem morphology, Seizure, Gait d... |
ORPHA:464311 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain |
OMIM:616202 |
Williams Syndrome |
|
Abnormality of the diencephalon |
ORPHA:904 |
Norrie Disease |
|
Abnormality of the diencephalon |
ORPHA:649 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Small for gestational age, Microc... |
ORPHA:268261 |