Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Growth delay |
OMIM:300804 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis |
OMIM:615665 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Short stature |
ORPHA:166024 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation |
OMIM:614465 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Shor... |
ORPHA:1532 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Intrauterine gro... |
OMIM:614815 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:617127 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Meningocele, Anencephaly, Molar tooth sign on MRI, ... |
OMIM:611134 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology |
OMIM:617757 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia |
OMIM:611560 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... |
OMIM:614175 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Atrophy/Degeneration affecting t... |
ORPHA:356961 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619111 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Anencephaly |
OMIM:614120 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele |
OMIM:612285 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Pontocerebellar Hypoplasia Type 10 |
|
Growth delay, Abnormal brainstem morphology |
ORPHA:411493 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Meningocele, Growth d... |
OMIM:614424 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:608629 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature |
OMIM:619185 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... |
ORPHA:370959 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Inguinal hernia |
OMIM:607131 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Severe short stature, Infancy onset short-trunk short stature, Abnormal midbrain... |
ORPHA:444072 |
Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, D... |
OMIM:608091 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... |
OMIM:216360 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia |
OMIM:619562 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital myelo... |
OMIM:213300 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... |
OMIM:619306 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Short stature, Rhizomelic leg shortening, ... |
ORPHA:397715 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Sho... |
OMIM:619476 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dandy... |
ORPHA:163961 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia |
ORPHA:2318 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia |
ORPHA:220497 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Inguinal hernia |
OMIM:617563 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia |
ORPHA:220493 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... |
ORPHA:370997 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology |
ORPHA:79139 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Short stature, Abnormal midbrain morphology |
ORPHA:314621 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... |
ORPHA:68 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Encephalocele, Rhizomelia, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Wal... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, ... |
OMIM:616546 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain, Short stature, Cerebellar hypoplasia |
OMIM:616202 |
Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature, Growth delay |
ORPHA:2754 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia, Short stature |
OMIM:277170 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Occipital encephalocele, Dilated fourth ventricle, Large placenta, Anencephaly, Chia... |
OMIM:249000 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Disproportionate short-limb short s... |
OMIM:619479 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Short stature |
ORPHA:2720 |
47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dysplasia |
ORPHA:8 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Abnormal midbrain morphology, Delayed puberty |
ORPHA:293987 |
Wilson Disease |
|
Face of the giant panda sign |
OMIM:277900 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Molar tooth sign on... |
OMIM:615948 |
Orofaciodigital Syndrome Type 14 |
|
Molar tooth sign on MRI, Dilated fourth ventricle, Dandy-Walker malformation |
ORPHA:434179 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Birth length less than 3rd percentile, Intrauterine growth retardation, Abnormal brainstem morpho... |
ORPHA:464311 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
Semilobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Abnormal brainstem morphology, Short stature |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Abnormal brainstem morphology, Short stature |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Growth delay, Neural tube defect, Abnormal brainstem morphology, Short stature |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Abnormal brainstem morphology, Short stature |
ORPHA:93924 |