Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Septopreoptic Holoprosencephaly |
|
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Hydrocephalus, Anencephaly, Agenesis of cerebellar vermis, Menin... |
OMIM:611134 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Molar tooth sign on MRI |
OMIM:614120 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:609583 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal cerebellum morphology, Abnormal brainstem m... |
ORPHA:1532 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walk... |
OMIM:614175 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr... |
OMIM:617622 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Joubert Syndrome 22 |
|
Intrauterine growth retardation, Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
Joubert Syndrome 18 |
|
Intrauterine growth retardation, Molar tooth sign on MRI |
OMIM:614815 |
Joubert Syndrome 7 |
|
Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem |
OMIM:611560 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI |
OMIM:619111 |
Al-Gazali-Bakalinova Syndrome |
|
Lymphedema, Molar tooth sign on MRI |
OMIM:607131 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Molar tooth sign on MRI |
OMIM:617757 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Cerebellar vermis hypoplasia, T... |
OMIM:610688 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Abnormal brainstem morphology, ... |
ORPHA:370022 |
Joubert Syndrome 17 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614615 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:618161 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Abnormal cerebellum morphology, Occipital encephalocele, Hypoplasia of the pons, D... |
ORPHA:370959 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:277170 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Hydrops fetalis, Anencephaly, Polyhydramnios, Cerebellar vermis hypoplasia, Molar ... |
OMIM:616546 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Hydrocephalus, Encephalocele, Dysgenesis of the cerebella... |
OMIM:608091 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:608629 |
Slc35A2-Cdg |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Abnormal midbrain morphology, I... |
ORPHA:356961 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Coach Syndrome 1 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Cerebellar vermis hypoplasia, Encephalocele, Occipit... |
OMIM:216360 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Agenesis of cerebellar vermis, Abnormal brainstem morphology, Cerebellar vermis hy... |
ORPHA:163961 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:619562 |
Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Encephalocele |
ORPHA:2318 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Encephalocele |
ORPHA:220497 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... |
OMIM:213300 |
Arima Syndrome |
|
Occipital meningocele, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Age... |
OMIM:243910 |
Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619185 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypopl... |
OMIM:619306 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Encephalocele |
ORPHA:220493 |
Duplication Of The Pituitary Gland |
|
Polyhydramnios, Encephalocele, Abnormal midbrain morphology |
ORPHA:314621 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Dysgenesis of the cerebel... |
ORPHA:397715 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Japanese Encephalitis |
|
Abnormal pons morphology, Pulmonary edema, Abnormal substantia nigra morphology, Abnormal midbrai... |
ORPHA:79139 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia, Absent mesencephalon |
OMIM:601374 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal brainstem MRI signal intensity... |
ORPHA:68 |
Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecting the brainstem, Ce... |
ORPHA:98755 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Abnormal mi... |
ORPHA:444072 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Neural tube defect, Chiari malformation, Meningocele, Lipom... |
ORPHA:268810 |
Alg3-Cdg |
|
Dandy-Walker malformation, Hypoplasia of the pons, Neural tube defect |
ORPHA:79321 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Joubert Syndrome 5 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, Thickened superior ce... |
OMIM:610188 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morph... |
ORPHA:370997 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:616300 |
Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia |
OMIM:619476 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Familial Acute Necrotizing Encephalopathy |
|
Cerebral edema, Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity |
ORPHA:88619 |
Meckel Syndrome, Type 1 |
|
Intrauterine growth retardation, Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Large placent... |
OMIM:249000 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
47,Xyy Syndrome |
|
Hydrocephalus, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Abnormal brainstem morp... |
ORPHA:8 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:2720 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain |
OMIM:616202 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Wilson Disease |
|
Face of the giant panda sign, Pedal edema, Ascites, Edema |
OMIM:277900 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
ORPHA:2754 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis |
OMIM:619479 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Orofaciodigital Syndrome Xiv |
|
Holoprosencephaly, Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walker malformation, Mol... |
OMIM:615948 |
Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology |
ORPHA:293987 |
Tay-Sachs Disease |
|
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia |
ORPHA:845 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Leigh Syndrome With Cardiomyopathy |
|
Abnormal brainstem morphology |
ORPHA:70474 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Dandy-Walker malformation |
ORPHA:434179 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Oligohydramnios, Intrauterine growth retardation, Abnormal brainstem morphology |
ORPHA:464311 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:93924 |
Schinzel-Giedion Syndrome |
|
Chiari type I malformation, Neural tube defect, Umbilical hernia |
ORPHA:798 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |