Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb... |
OMIM:609583 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617562 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617767 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Ataxia, Gait ataxia |
OMIM:617120 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Inability to walk |
OMIM:614970 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614464 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:619113 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Adult Krabbe Disease |
|
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, So... |
ORPHA:206448 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617757 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ataxia, Brainstem dysplasia |
OMIM:611560 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Anterior hypopituitaris... |
ORPHA:280195 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Joubert Syndrome 6 |
|
Ataxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar pedun... |
OMIM:610688 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Progressive Supranuclear Palsy |
|
Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Falls, Neuronal loss in central nerv... |
ORPHA:683 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia |
OMIM:618161 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia |
OMIM:608629 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Inability to walk, Ataxia |
OMIM:617563 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:612291 |
Slc35A2-Cdg |
|
Abnormal midbrain morphology, Precocious puberty, Inability to walk, Elevated circulating thyroid... |
ORPHA:356961 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI |
OMIM:614465 |
Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Abnormality of the hypothalamus-pituitary axis, Ataxia, Gait disturbance |
ORPHA:220497 |
Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Abnormality of the hypothalamus-pituitary axis, Ataxia, Gait disturbance |
ORPHA:220493 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Abnormality of the hypothalamus-pituitary axis, Ataxia |
ORPHA:2318 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI |
OMIM:617622 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI |
OMIM:615665 |
Joubert Syndrome 2 |
|
Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated supe... |
OMIM:608091 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
Joubert Syndrome 14 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ataxia |
OMIM:614424 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:619111 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal brainstem M... |
ORPHA:68 |
Coach Syndrome 1 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:216360 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Joubert Syndrome 1 |
|
Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated supe... |
OMIM:213300 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
OMIM:619476 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Choreoathetosis, Abnormal pon... |
ORPHA:79139 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI |
OMIM:619185 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Pain insensitivity |
OMIM:619562 |
Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI |
OMIM:614175 |
Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI, Ataxia, Gait disturbance |
ORPHA:2754 |
Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Ataxia, Thickened superior cerebellar peduncle |
OMIM:610188 |
Arima Syndrome |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ataxia, Brainstem dysplasia |
OMIM:243910 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology |
ORPHA:444072 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI |
OMIM:611134 |
Duplication Of The Pituitary Gland |
|
Abnormal pituitary gland morphology, Abnormal midbrain morphology |
ORPHA:314621 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Central diab... |
ORPHA:293987 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:619306 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
ORPHA:397715 |
Wilson Disease |
|
Hypoparathyroidism, Hypoesthesia, Face of the giant panda sign |
OMIM:277900 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:616546 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI |
OMIM:277170 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Small pituitary gland |
OMIM:619479 |
Meckel Syndrome, Type 1 |
|
Molar tooth sign on MRI, Adrenal hypoplasia |
OMIM:249000 |
Orofaciodigital Syndrome Type 14 |
|
Molar tooth sign on MRI |
ORPHA:434179 |
Orofaciodigital Syndrome Xiv |
|
Molar tooth sign on MRI |
OMIM:615948 |