Lipomatosis, Multiple Symmetric |
|
Lipoma |
OMIM:151800 |
Lipomatosis, Multiple |
|
Multiple lipomas |
OMIM:151900 |
Joubert Syndrome 27 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:617120 |
Joubert Syndrome 33 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:617767 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Joubert Syndrome 25 |
|
Ataxia, Molar tooth sign on MRI |
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 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Ataxia, Molar too... |
OMIM:609583 |
Meckel Syndrome 13 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:617562 |
Joubert Syndrome 15 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:614464 |
Joubert Syndrome 28 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:617121 |
Joubert Syndrome 17 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:614615 |
Adult Krabbe Disease |
|
Broad-based gait, Abnormal pons morphology, Ataxia, Acroparesthesia, Abnormal medulla oblongata m... |
ORPHA:206448 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Coach Syndrome 3 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:619113 |
Joubert Syndrome 32 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:617757 |
Joubert Syndrome 7 |
|
Ataxia, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem |
OMIM:611560 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morpholog... |
ORPHA:280195 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Ataxia, Thickened superior cerebellar peduncle, Molar too... |
OMIM:610688 |
Paragangliomas 1 |
|
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... |
OMIM:168000 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Bradykinesia, Falls, Unsteady... |
ORPHA:683 |
Paragangliomas 3 |
|
Glomus jugular tumor, Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Ad... |
OMIM:605373 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI |
OMIM:618161 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI |
OMIM:608629 |
Orofaciodigital Syndrome Xvi |
|
Ataxia, Inability to walk, Molar tooth sign on MRI |
OMIM:617563 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Joubert Syndrome 8 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:612291 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI |
OMIM:614465 |
Joubert Syndrome With Renal Defect |
|
Gait disturbance, Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI, Ataxia |
ORPHA:220497 |
Slc35A2-Cdg |
|
Precocious puberty, Inability to walk, Atrophy/Degeneration affecting the brainstem, Elevated cir... |
ORPHA:356961 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Joubert Syndrome With Ocular Defect |
|
Gait disturbance, Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI, Ataxia |
ORPHA:220493 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI, 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 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Ataxia, Thickened superior cerebellar peduncle, Molar too... |
OMIM:608091 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI |
OMIM:277170 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:619111 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Ataxia, Abnormal brainstem MRI signal intensity, Abnormality of the adr... |
ORPHA:68 |
Coach Syndrome 1 |
|
Ataxia, Molar tooth sign on MRI |
OMIM:216360 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI, Brainstem dysplasia, Hyp... |
OMIM:213300 |
Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Small pituitary gland, Ectopic posterior p... |
OMIM:619476 |
Japanese Encephalitis |
|
Abnormal pons morphology, Inappropriate antidiuretic hormone secretion, Abnormal substantia nigra... |
ORPHA:79139 |
Arima Syndrome |
|
Ataxia, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem |
OMIM:243910 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI |
OMIM:619185 |
Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI |
OMIM:614175 |
Orofaciodigital Syndrome Type 6 |
|
Gait disturbance, Ataxia, Molar tooth sign on MRI |
ORPHA:2754 |
Joubert Syndrome 5 |
|
Thickened superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI |
OMIM:610188 |
Joubert Syndrome 39 |
|
Pain insensitivity, Molar tooth sign on MRI |
OMIM:619562 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Abnormal midbrain morphology, Hypoplasia of the brainstem |
ORPHA:444072 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Abnormal midbrain morphology |
ORPHA:314621 |
Von Hippel-Lindau Disease |
|
Paraganglioma, Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic end... |
ORPHA:892 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI |
OMIM:611134 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Ab... |
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 |
|
Elongated superior cerebellar peduncle, Molar tooth sign on MRI |
ORPHA:397715 |
Wilson Disease |
|
Hypoparathyroidism, Face of the giant panda sign, Hypoesthesia |
OMIM:277900 |
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 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI |
OMIM:616546 |
Meckel Syndrome, Type 1 |
|
Adrenal hypoplasia, Molar tooth sign on MRI |
OMIM:249000 |
Orofaciodigital Syndrome Type 14 |
|
Molar tooth sign on MRI |
ORPHA:434179 |
Orofaciodigital Syndrome Xiv |
|
Molar tooth sign on MRI |
OMIM:615948 |