Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Ravine Syndrome |
|
Ataxia, Anorexia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atrophy/Deg... |
ORPHA:99852 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Dysphagia, Rhombencephalosynap... |
ORPHA:280195 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... |
ORPHA:98755 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor, Ataxia |
OMIM:617121 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death |
OMIM:301021 |
Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Ataxia, Molar tooth sign on MRI, Elongated superior cerebellar pedu... |
OMIM:609583 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:617562 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Self-mutilation, Aggressive behavior |
OMIM:614970 |
Lethal Congenital Contracture Syndrome 8 |
|
Neonatal death, Death in infancy |
OMIM:616287 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal autonomic nervous system physiology, Dysp... |
ORPHA:363722 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death |
OMIM:300076 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the brainstem, Mola... |
OMIM:610688 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy |
OMIM:617184 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl... |
ORPHA:206448 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Atte... |
ORPHA:467166 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:620265 |
Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Stillbirth, Death in adolescence |
OMIM:619751 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death |
OMIM:615228 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Olivopont... |
ORPHA:370959 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Ataxia |
OMIM:617757 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death |
OMIM:612138 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Br... |
OMIM:213300 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:614096 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy |
OMIM:242500 |
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 30 |
|
Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on MRI, Dandy-Walker malforma... |
OMIM:617622 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... |
ORPHA:251937 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Abnormal midbrai... |
ORPHA:79139 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:617127 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death |
OMIM:601612 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Optic disc pallor, Ataxia |
OMIM:612291 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death |
OMIM:620203 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death |
OMIM:614870 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ataxia, Brainstem dysplasia |
OMIM:611560 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Abnormal autonomic ne... |
ORPHA:93256 |
Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve |
ORPHA:449563 |
Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Optic atrophy, Hypoplasia of... |
OMIM:614424 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:619113 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, At... |
OMIM:618161 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614464 |
Coach Syndrome 1 |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellar ver... |
OMIM:216360 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:619334 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Joubert Syndrome 2 |
|
Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Optic disc coloboma, Hypoplasia of th... |
OMIM:608091 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Molar tooth sign on MRI |
ORPHA:220497 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death |
OMIM:615918 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, At... |
OMIM:608629 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Facial... |
ORPHA:68 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Molar tooth sign on MRI |
ORPHA:220493 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death |
OMIM:245650 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619111 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death |
OMIM:602199 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia |
ORPHA:2318 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy |
OMIM:613730 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Abnormal optic disc morphology, Pineal cyst |
OMIM:617516 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Death in infancy, Miscarriage |
OMIM:613390 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Aggressive b... |
ORPHA:293987 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:614815 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... |
OMIM:619306 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Dandy-Walker malformation, Atrophy/Degeneration... |
ORPHA:356961 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death |
OMIM:619817 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Self-mutilation, Abnormal pituitary gland morphology, Abnormal ... |
ORPHA:314621 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to growth hormone s... |
OMIM:619476 |
Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI, Dilated fourth ventricle, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:614175 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal optic disc morphology, Dys... |
ORPHA:397715 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
Afibrinogenemia, Congenital |
|
Neonatal death, Death in infancy, Death in adolescence, Death in childhood |
OMIM:202400 |
Boomerang Dysplasia |
|
Neonatal death |
OMIM:112310 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619185 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Fetal Gaucher Disease |
|
Neonatal death, Death in infancy, Stillbirth |
ORPHA:85212 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death |
OMIM:618232 |
Lymphatic Malformation 12 |
|
Neonatal death, Death in adolescence |
OMIM:620014 |
Joubert Syndrome 5 |
|
Agenesis of cerebellar vermis, Ataxia, Aggressive behavior, Aplasia/Hypoplasia of the cerebellar ... |
OMIM:610188 |
Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death |
OMIM:253310 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Ataxia |
OMIM:617563 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Pain insensitivity, Cerebellar vermis hypoplasia |
OMIM:619562 |
Wilson Disease |
|
Limb dystonia, Dystonia, Decreased nerve conduction velocity, Tremor, Hypoesthesia, Hand tremor, ... |
OMIM:277900 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Dandy-Walker malformation |
OMIM:611134 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypothalamic hamartoma, Molar tooth sign on MRI |
ORPHA:2754 |
Abcd Syndrome |
|
Neonatal death |
OMIM:600501 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... |
ORPHA:444072 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy |
OMIM:618839 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland |
OMIM:614402 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia, Aggressive behavior |
OMIM:616202 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Tongue thrusting, Abnormality of the pineal gland, Compulsive behaviors, Aggressive behavior |
ORPHA:369950 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI, Stillbirth, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:616300 |
Intrahepatic Cholestasis Of Pregnancy |
|
Tremor, Abnormal pineal melatonin secretion |
ORPHA:69665 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death |
OMIM:615709 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Ataxia, Abnormality of perip... |
OMIM:601992 |
Mednik Syndrome |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:609313 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hypothalamic hamartoma |
OMIM:277170 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Small pituitary gland |
OMIM:619479 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Facial palsy, Decreased response to growth hormone stimulation test, Abnormal repe... |
OMIM:615873 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy |
OMIM:265120 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death |
OMIM:619362 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia |
OMIM:616546 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Pineal cyst |
OMIM:618885 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Optic atrophy, Pineal cyst, Chiari type I ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Optic atrophy, Pineal cyst, Chiari type I ... |
ORPHA:363958 |
Rabson-Mendenhall Syndrome |
|
Polydipsia, Increased pineal volume |
ORPHA:769 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Optic disc coloboma, Optic nerve hypoplasia |
ORPHA:536471 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Pineal cyst, Cerebellar hypoplasia |
OMIM:300967 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Optic disc coloboma, Cerebellar hypoplasia, Molar tooth sign on MRI... |
OMIM:615948 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Gait ataxia, Pineal cyst, Stereotypical body rocking, Cerebellar ... |
ORPHA:513456 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Chiari malformation, Cerebellar hypoplasia, Molar tooth sign on MRI, Da... |
OMIM:249000 |
17Q24.2 Microdeletion Syndrome |
|
Pineal cyst, Decreased response to growth hormone stimulation test, Aggressive behavior |
ORPHA:529962 |
Orofaciodigital Syndrome Type 14 |
|
Molar tooth sign on MRI, Dilated third ventricle, Dilated fourth ventricle, Dandy-Walker malforma... |
ORPHA:434179 |
Oculoectodermal Syndrome |
|
Hyperactivity, Pineal cyst |
OMIM:600268 |
Neutral Lipid Storage Myopathy |
|
Pineal cyst |
ORPHA:98908 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Dysmetria, Positive Romberg sign, Cerebellar hypoplasia, Nonprogress... |
ORPHA:314647 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ataxia, Dysmetria, Intention tremor |
OMIM:619352 |