Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Myofibromatosis, Infantile, 1 |
|
Myofibromatosis, Fibroma |
OMIM:228550 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Dwarfism With Tall Vertebrae |
|
Increased vertebral height |
OMIM:126950 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma |
OMIM:609265 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dyspla... |
OMIM:604213 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Primary Basilar Invagination |
|
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... |
OMIM:618736 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... |
OMIM:606719 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... |
OMIM:619301 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Pontocerebellar atrophy, Tremor, Cerebellar hypoplasia, Hypoplasia of the corpus ... |
OMIM:618060 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebral cortical atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy, Hydrocephalus, A... |
ORPHA:2703 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, H... |
OMIM:619302 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Tetraparesis, Polymicrogyria, Hypoplas... |
OMIM:610031 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
Lissencephaly 5 |
|
Leukoencephalopathy, Cerebellar vermis hypoplasia, Spastic paraplegia, Occipital encephalocele, H... |
OMIM:615191 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Leukoencephalopathy, Hypoplasia of the corpus callosum, Babinski sign, Lower limb spasticity, Ata... |
OMIM:615281 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Syringom... |
OMIM:207950 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Spasticity, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ca... |
OMIM:614039 |
Neural Tube Defects, Susceptibility To |
|
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... |
OMIM:182940 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Tetraparesis, Increased ... |
ORPHA:255182 |
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spin... |
OMIM:616602 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Tongue fasciculations, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Tetraparesis, Dysp... |
OMIM:618276 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Focal... |
OMIM:615771 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgyria, Cerebellar... |
ORPHA:352682 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Hypo... |
OMIM:611603 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Vertebral segmentation defect |
ORPHA:2956 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal vertebral morphology, Abnormal corpus callosum morphology, Ventriculomegaly, Microcephal... |
OMIM:618709 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cer... |
OMIM:618291 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Thick corpus callosum, Megalencephaly |
OMIM:615938 |
Hydrocephalus, Congenital, X-Linked |
|
Spastic paraplegia, Spasticity, Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesi... |
OMIM:307000 |
Masa Syndrome |
|
Spastic paraplegia, Ventriculomegaly, Paraplegia, Agenesis of corpus callosum, Microcephaly, Lowe... |
OMIM:303350 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Midline brainstem cleft, Hemiparesis, Agenesis of corpus callosum, Hydroc... |
OMIM:617542 |
Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... |
ORPHA:1931 |
Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Kyphoscoliosis |
ORPHA:93304 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... |
ORPHA:3318 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis |
OMIM:604416 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lis... |
OMIM:613153 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Joubert Syndrome 13 |
|
Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... |
OMIM:220200 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Megalencephaly |
OMIM:155350 |
Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly |
OMIM:614120 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Spasticity, Hypoplasia of the corpus cal... |
OMIM:304100 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... |
OMIM:615937 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Spondylosis, Cervical |
|
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis |
OMIM:184300 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Spasticity, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Hydroc... |
ORPHA:2182 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis |
ORPHA:2807 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Reduced cerebral white matter volume, Hypoplasia of the brainstem, Secondary microcephaly, Hypopl... |
OMIM:618174 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... |
OMIM:609813 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum morphology, Hydr... |
ORPHA:1532 |
Acalvaria |
|
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida |
ORPHA:945 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal corpus callosum morphology, Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricl... |
ORPHA:300573 |
Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Cerebral calcification, Hemiplegia/hemiparesis, Hydrocephalus, Ataxia |
ORPHA:99966 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Ventriculomegaly, Spasticity, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Age... |
OMIM:617090 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Neuronal Intranuclear Inclusion Disease |
|
Abnormal form of the vertebral bodies, Hypertonia, Ataxia, Spina bifida occulta, Scoliosis |
ORPHA:2289 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
Nevus Comedonicus Syndrome |
|
Abnormal vertebral morphology, Microcephaly, Spina bifida, Spina bifida occulta, Scoliosis |
ORPHA:64754 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Oculomotor apraxia, Hydrocephalus, Mol... |
OMIM:619111 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Babinski sign,... |
OMIM:613162 |
Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Dysgenesis of the basal ganglia, Hypo... |
ORPHA:171680 |
Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... |
ORPHA:1528 |
Band Heterotopia |
|
Ventriculomegaly, Spasticity, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca... |
OMIM:600348 |
Osteoarthritis With Mild Chondrodysplasia |
|
Platyspondyly, Beaking of vertebral bodies, Schmorl's node, Irregular vertebral endplates |
OMIM:604864 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... |
ORPHA:500166 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the ... |
ORPHA:370959 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia |
ORPHA:251912 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Abnormal vertebral morphology, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of c... |
ORPHA:166024 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... |
ORPHA:250972 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Abnormal vertebral morphology, Abnormal corpus callosum morphology,... |
ORPHA:280195 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainst... |
ORPHA:101070 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Ventriculomegaly, Involuntary movements, Cerebellar atrophy, Abnormal ... |
ORPHA:157941 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Hypoplasia of the brainstem, Cerebellar d... |
OMIM:613155 |
Acrofacial Dysostosis, Catania Type |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Micro... |
OMIM:101805 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Abnormal cortical gyration, Upper lim... |
ORPHA:2524 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly, Tremor |
OMIM:611808 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple |
ORPHA:2064 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Limb h... |
ORPHA:99742 |
Sprengel Deformity |
|
Spina bifida occulta, Cervical segmentation defect, Scoliosis, Hemivertebrae |
OMIM:184400 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Secondary microcephaly, Dy... |
OMIM:620317 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, ... |
OMIM:615181 |
Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Spina bifida occulta at S1, Spina bifida occulta at L5 |
OMIM:102510 |
Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia |
OMIM:617562 |
Joubert Syndrome 30 |
|
Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Molar tooth si... |
OMIM:617622 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Hypoglycorrhachia, Secondary microcephaly, Myoclonus, Hemiparesis, Babinski sign, Par... |
OMIM:606777 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:617127 |
Spinal Dysplasia, Anhalt Type |
|
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis... |
OMIM:601344 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Microcephaly, Short neck, Hyperlordosis, Spina bifida occulta, Abn... |
ORPHA:1797 |
Fried Syndrome |
|
Cerebral calcification, Abnormal cerebellum morphology, Hydrocephalus, Scoliosis, Spastic diplegia |
ORPHA:85335 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Myelomeningocele, Chiari type II malformation, Abnormal odontoid process morphol... |
OMIM:613686 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Hypoglycorrhachia, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Progressive mi... |
ORPHA:71277 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpu... |
OMIM:225790 |
Alexander Disease Type I |
|
Spasticity, Cerebellar atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal pyramidal si... |
ORPHA:363717 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Stxbp1-Related Encephalopathy |
|
Spasticity, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia, Spastic te... |
ORPHA:599373 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Incoor... |
OMIM:616034 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Cerebral atrophy, Small basal ganglia, Hypoplasia of the corpus callosum, Par... |
OMIM:616286 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
Joubert Syndrome 31 |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Oculomotor apraxia, Molar tooth sign on MRI,... |
OMIM:617761 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Alexander Disease |
|
Increased CSF protein concentration, Spasticity, Dysmetria, Abnormal dentate nucleus morphology, ... |
OMIM:203450 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Periventricular white matter hyperintensities, Tremor, Microcephaly, Hydrocephalus, Spastic tetra... |
OMIM:619470 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Ventriculomegaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... |
OMIM:617967 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Hemiplegia/hemiparesis, Cervical C2/C3 vertebral fusion, Sho... |
ORPHA:2345 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Spina bifida occulta, Sacrococcygeal pilonidal abnormality |
ORPHA:2840 |
Joubert Syndrome 25 |
|
Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Pleuropulmonary Blastoma |
|
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma |
OMIM:601200 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Molar tooth sign o... |
OMIM:611134 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Babinski sign, Hydrocephalus, Ataxia |
ORPHA:73256 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Adult Krabbe Disease |
|
Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal medulla oblongata mor... |
ORPHA:206448 |
Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Scoliosis, Microcephaly |
ORPHA:177 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Spasticity, Hypoplasia of the pons, Increased CSF la... |
ORPHA:500144 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
Developmental And Epileptic Encephalopathy 36 |
|
Cerebral atrophy, Abnormality of extrapyramidal motor function, Microcephaly, Abnormal pyramidal ... |
OMIM:300884 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Spasticity, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Babinski... |
OMIM:615599 |
Distal Deletion 10Q |
|
Inferior cerebellar vermis hypoplasia, Spasticity, Lateral ventricle dilatation, Cavum septum pel... |
ORPHA:96148 |
Congenital Hydrocephalus |
|
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus,... |
ORPHA:2185 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis |
OMIM:614034 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... |
ORPHA:370022 |
Caudal Duplication |
|
Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spinal cord lesion, Spina bifida, ... |
ORPHA:1756 |
Dystonia 31 |
|
Parkinsonism, Abnormal posturing |
OMIM:619565 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop... |
OMIM:615249 |
Microhydranencephaly |
|
Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cere... |
OMIM:605013 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Paralysi... |
OMIM:105500 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta |
ORPHA:1514 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Kyphoscoliosis, Agenesis of corpus callosum, Molar tooth sign on MRI, Ag... |
OMIM:614815 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Hypoplasia of the brainstem, Kyphoscoliosis, Microcephaly, Short neck, Spina ... |
OMIM:193700 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Small cerebral cortex, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis ... |
OMIM:617360 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ventriculomegaly, Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cy... |
ORPHA:255138 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... |
OMIM:608629 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Tremor, Agenesis of corpus callosum,... |
ORPHA:220497 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Umbilical hernia, Vertebral segmentation defect, Microceph... |
ORPHA:2311 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Type II lissencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Spasticity, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Babinski... |
ORPHA:397951 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho... |
OMIM:243150 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Gait ataxia, Microcephaly |
OMIM:268850 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Cerebellar malformation, Hydroc... |
ORPHA:324416 |
Isotretinoin Syndrome |
|
Spina bifida occulta, Sacral dimple |
ORPHA:2305 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Encep... |
OMIM:613150 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Machado-Joseph Disease Type 1 |
|
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... |
ORPHA:276241 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebral calcification, CSF l... |
OMIM:610333 |
Fountain Syndrome |
|
Abnormal form of the vertebral bodies, Spina bifida, Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:3219 |
Joubert Syndrome 16 |
|
Oculomotor apraxia, Dandy-Walker malformation, Encephalocele, Molar tooth sign on MRI |
OMIM:614465 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus, Spina bifida, Spina bifida occulta |
ORPHA:2437 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Joubert Syndrome With Ocular Defect |
|
Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Tremo... |
ORPHA:220493 |
Joubert Syndrome 7 |
|
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Brainstem dysplasia, Encephaloc... |
OMIM:611560 |
Machado-Joseph Disease Type 3 |
|
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... |
ORPHA:276244 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Spina bifida occulta, Aplasia/Hypoplasia of the cerebellum |
ORPHA:1185 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Becker Nevus Syndrome |
|
Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:64755 |
White Forelock With Malformations |
|
Spina bifida occulta |
ORPHA:2475 |
Schisis Association |
|
Microcephaly, Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Spina bifida occulta, Short neck, Kyphosis |
ORPHA:2983 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Lymphopenia, Leukopenia, Thrombocytosis |
OMIM:615934 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Dysplastic corpus callosum, Babinski sign, Microcephaly, Spastic tetraplegia,... |
OMIM:252650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the brainstem, Type II lissencephaly, Agyria, Polymicrogyria, Encephalocele, Agenes... |
OMIM:253800 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal cerebral cortex morphology, Abnormal bra... |
ORPHA:163961 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Spina bifida occulta |
ORPHA:230839 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Aplasi... |
ORPHA:1908 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Tremor, Babinski sign, Hyperlordosis, Tort... |
OMIM:128100 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Ventriculomegaly, Hydromyelia, Occipital encephalocele, Spasticity, Hypoplasia of the brainstem, ... |
OMIM:615287 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Cerebral palsy, Hypoplasia of the brainstem, Appendicular spasticit... |
OMIM:620001 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hand tremor, Postural tremor, Babinski sign, Abnormal spinal cord morphology, Hydrocephalus, Voca... |
ORPHA:99947 |
Acrofacial Dysostosis, Palagonia Type |
|
Spina bifida occulta, Short neck, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:1787 |
Pontocerebellar Hypoplasia, Type 7 |
|
Tongue fasciculations, Ventriculomegaly, Spasticity, Spastic paraplegia, Hypoplasia of the pons, ... |
OMIM:614969 |
Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Oculomotor apraxia, Thicken... |
OMIM:609583 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Cerebellar atrophy, Hydrocephalus, Periventricular leukomalacia |
OMIM:618302 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Microcephaly, Short neck, Spina bifida |
OMIM:620439 |
Three M Syndrome 1 |
|
Spina bifida occulta, Short neck, Increased vertebral height, Hyperlordosis |
OMIM:273750 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cer... |
OMIM:616900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ... |
OMIM:613154 |
Primary Angiitis Of The Central Nervous System |
|
Abnormal CSF protein concentration, Recurrent subcortical infarcts, Tetraparesis, Hemiparesis, Pa... |
ORPHA:140989 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... |
OMIM:617751 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, ... |
OMIM:618577 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Joubert Syndrome 15 |
|
Exencephaly, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia |
OMIM:614464 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Increased CSF lactate, Paralysis |
OMIM:613710 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Iron deficiency anemia, Thrombocytosis |
OMIM:226300 |
Joubert Syndrome 9 |
|
Ventriculomegaly, Encephalocele, Oculomotor apraxia, Molar tooth sign on MRI, Scoliosis |
OMIM:612285 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormal form of the vertebral bodies, Microcephaly, Spina bifida, Sacral dimple |
ORPHA:1327 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Platyspondyly, Ventriculomegaly, Spasticity, Kyphosis, Cerebral calcifi... |
OMIM:618476 |
Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis |
ORPHA:729 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida occulta, Lumbar hyperlordosis, Back pain |
OMIM:169550 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis |
OMIM:236660 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Hypertonia |
ORPHA:250994 |
Distal 7Q11.23 Microduplication Syndrome |
|
Chiari malformation, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Joubert Syndrome 14 |
|
Ataxia, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Encephalocele, Hypoplasia of t... |
OMIM:614424 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spasticity, Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morpholog... |
ORPHA:300570 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis |
ORPHA:71493 |
Diabetic Embryopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Vertebral segmentation defect, Micr... |
ORPHA:1926 |
L1 Syndrome |
|
Aqueductal stenosis, Spasticity, Hydrocephalus, Hemiplegia/hemiparesis |
ORPHA:275543 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Abnormal posturing, Tremor |
OMIM:304700 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Facial-lingual fasciculations, Basal ... |
OMIM:617281 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Microcepha... |
OMIM:614219 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Carpenter Syndrome 1 |
|
Cerebral atrophy, Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, Short neck, Spina ... |
OMIM:201000 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Chiari type I m... |
OMIM:218350 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Joubert Syndrome 22 |
|
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Oculomotor apraxia, Molar tooth sig... |
OMIM:615665 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... |
OMIM:220220 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Spina bifida occulta, Spondylolisthesis |
OMIM:617877 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Limb myoclonus, Focal cortical dysplasia, Polymicrogyria, Myelomeningoce... |
ORPHA:101030 |
Japanese Encephalitis |
|
Opisthotonus, Paucity of anterior horn motor neurons, Cerebral edema, Choreoathetosis, Abnormal m... |
ORPHA:79139 |
Slc35A2-Cdg |
|
Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy,... |
ORPHA:356961 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Lissencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Type II lissencephaly, Polymicrogyr... |
OMIM:614643 |
Pettigrew Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Basal ganglia calcification, Cerebral... |
OMIM:304340 |
Cogan Syndrome |
|
Anemia, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
Joubert Syndrome 32 |
|
Polymicrogyria, Abnormal cerebellum morphology, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia |
OMIM:617757 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Block vertebrae, Dilated third ventricle, Chiari malformation, Late... |
OMIM:304050 |
Joubert Syndrome 2 |
|
Ataxia, Abnormal corpus callosum morphology, Enlarged fossa interpeduncularis, Dysgenesis of the ... |
OMIM:608091 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... |
OMIM:620156 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Cerebellar vermis hypoplasia, Spasticity, Secondary microcephaly, Cerebellar malformation, Dilate... |
ORPHA:357058 |
Acrocraniofacial Dysostosis |
|
Spina bifida occulta, Microcephaly, Abnormal form of the vertebral bodies |
ORPHA:949 |
Methylmalonic Acidemia With Homocystinuria |
|
Microcephaly, Hydrocephalus |
ORPHA:26 |
Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypertonia, Meningoc... |
ORPHA:588 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Thrombocytosis |
ORPHA:134 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Microcephaly, Hemiplegia/hemiparesis, Agenesis of corpus callosum |
ORPHA:1496 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Spasticity, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus ca... |
OMIM:614833 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Houge-Janssens Syndrome 2 |
|
Ventriculomegaly, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Mi... |
OMIM:616362 |
Neu-Laxova Syndrome 2 |
|
Ventriculomegaly, Cerebellar hypoplasia, Microcephaly, Short neck, Spina bifida, Scoliosis, Lisse... |
OMIM:616038 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Iniencephaly |
|
Lissencephaly, Spinal dysraphism, Absent vertebra, Myelomeningocele, Encephalocele, Syringomyelia... |
ORPHA:63259 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Abnormal odontoid process morphology, Encephalocele, Agenesis of co... |
ORPHA:314621 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Maffucci Syndrome |
|
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... |
ORPHA:163634 |
Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... |
ORPHA:324636 |
Van Esch-O'Driscoll Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Unilateral vocal cord paralysis, Microcephaly, ... |
OMIM:301030 |
Weiss-Kruszka Syndrome |
|
Dysplastic corpus callosum |
ORPHA:502430 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Butterfly vertebrae, Microcephaly, Fused cervical vertebrae |
OMIM:619227 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Scoliosis |
OMIM:605285 |
Joubert Syndrome 6 |
|
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Dila... |
OMIM:610688 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Cerebellar atrophy, Absent septum pellucidum, Microce... |
OMIM:619895 |
Neu-Laxova Syndrome |
|
Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Cerebral calcificati... |
ORPHA:2671 |
Acquired Ichthyosis |
|
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma |
ORPHA:454 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Spina bifida occulta, Cerebral calcification, Scoliosis, Hyperlordosis |
ORPHA:2780 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Sacral dimple, Dilated fourth ventricle, Cerebellar hypoplasia, Molar to... |
OMIM:614175 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Dysplastic corpus callo... |
OMIM:151050 |
Nasu-Hakola Disease |
|
Cerebral cortical atrophy, Ventriculomegaly, Spasticity, Chorea, Cerebral calcification, Oculomot... |
ORPHA:2770 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Hydroceph... |
ORPHA:2318 |
Autosomal Spastic Paraplegia Type 58 |
|
Erratic myoclonus, Spasticity, Cerebellar atrophy, Cerebral atrophy, Frequent falls, Fasciculatio... |
ORPHA:397946 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anemia, Leukopenia, Leukocytosis, Thrombocytosis |
ORPHA:20 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Ce... |
OMIM:236670 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Hypochromic anemia, Leukocytosis, Thrombocytosis |
OMIM:618213 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Scoliosis, Vocal cord paralysis |
ORPHA:640 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Vertebral segmentation defect |
ORPHA:1104 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Athetosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Abnormal posturing, Progressive extrapyramidal muscular rigidity, Hemiplegia, Cho... |
ORPHA:225147 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Microcephaly |
ORPHA:1786 |
Alagille Syndrome |
|
Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral bodies, Vertebral ... |
ORPHA:52 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Hypoplasia of the corpus callosum, Short neck, Hydrocephalus, Sacral dimple |
ORPHA:1516 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Isolated Posterior Meningocele |
|
Hydromyelia, Chiari malformation, Thoracic hemivertebrae, Paraplegia, Hydrocephalus, Lipomyelomen... |
ORPHA:268810 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Abnormal form of the vertebral bodies, Lumbar hyperlordosis, Prominent protrudin... |
ORPHA:2839 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Thrombocyt... |
OMIM:615688 |
Knobloch Syndrome 1 |
|
Ventriculomegaly, Cerebellar atrophy, Occipital encephalocele, Cerebral atrophy, Polymicrogyria, ... |
OMIM:267750 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Abnormal form of the vertebral bodies, Hydrocephalus, Spina bifida, Hemive... |
ORPHA:3412 |
Hereditary Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Al-Gazali-Bakalinova Syndrome |
|
Short neck, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Hydrocephalus, Megalencephaly, Thick corpus callosum |
OMIM:248000 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Abnormal posturing, Eye of the tiger anomaly of globus pallidus, Opisthotonus, Freque... |
ORPHA:216866 |
Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia |
ORPHA:251915 |
Alkuraya-Kucinskas Syndrome |
|
Lissencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus ca... |
OMIM:617822 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia |
ORPHA:514 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Chiari type I malformation, Microcepha... |
OMIM:620157 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated thir... |
ORPHA:397715 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Greig Cephalopolysyndactyly Syndrome |
|
Ventriculomegaly, Umbilical hernia, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... |
OMIM:175700 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Ankle clonus, Diffuse cerebral atrophy, Microcephaly, Short neck, Hydrocephalus... |
OMIM:613776 |
Osteopathia Striata With Cranial Sclerosis |
|
Thoracolumbar kyphosis, Hydrocephalus, Spina bifida occulta, Partial agenesis of the corpus callo... |
OMIM:300373 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Chiari type I malformation, Microcephaly, Hypothalamic hamartoma, Hydroc... |
OMIM:241800 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Umbilical hernia, Vertebral segmentation defect, Microcephaly, Spina bifida occulta, Scoliosis |
ORPHA:2990 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Ventriculomegaly, Spina bifida, Vertebral segmentation defect |
ORPHA:1120 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Secondary microcephaly, Periventricular white matter hyperintensities, Tremor, Hemiparesis, Dyspl... |
OMIM:619737 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Chiari malformation, Cerebral atrophy, Umbilical hernia, Abnormal septum pellucidum morphology, H... |
ORPHA:171839 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis |
ORPHA:86843 |
Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Aqueductal stenosis, Abnormality of the vertebral column, Hydrocep... |
OMIM:276950 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Joubert Syndrome 33 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia |
OMIM:617767 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... |
ORPHA:247806 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Scoliosis, Spina bifida |
ORPHA:894 |
Poems Syndrome |
|
Splenomegaly, Polycythemia, Thrombocytosis |
ORPHA:2905 |
Ollier Disease |
|
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma |
ORPHA:296 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting |
OMIM:615709 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Unilateral vocal cord paresis, Spinal dysraphism, Butterfly vertebrae, Mic... |
OMIM:617660 |
Limb Body Wall Complex |
|
Progressive congenital scoliosis, Abnormality of the vertebral column, Myelomeningocele, Encephal... |
ORPHA:2369 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Sacral dimple, Microcephaly, Hydrocephalus, Spina bifi... |
ORPHA:235 |
Poretti-Boltshauser Syndrome |
|
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal periventri... |
OMIM:615960 |
Hemangioblastoma |
|
Spinal hemangioblastoma, Hydrocephalus, Cerebellar edema, Cerebellar hemangioblastoma |
ORPHA:252054 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Abnormality of the vertebral column, Hydrocephalus, Agenesis of corpus callosum |
OMIM:109120 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Thin corpus callosum, Hydrocephalus, Cerebral atrophy |
OMIM:616521 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pachygyria, Spina bifida occulta, Scoliosis, Umbilical hernia |
OMIM:235510 |
Joubert Syndrome 27 |
|
Oculomotor apraxia, Gait ataxia, Molar tooth sign on MRI, Ataxia |
OMIM:617120 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Cavum septum pellucidum, Megalencephaly |
OMIM:602501 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Megalencephaly, Polymicrogyria |
ORPHA:83473 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Cerebral palsy, Periventricular leukomalacia, Microcephaly, Colpocephaly, Hydro... |
OMIM:619833 |
Anal Fistula |
|
Leukocytosis |
ORPHA:228113 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Spastic tetraplegia, Hydrocephalus, Kyphoscoliosis |
OMIM:300886 |
Trisomy 20P |
|
Platyspondyly, Abnormal form of the vertebral bodies, Umbilical hernia, Incoordination, Vertebral... |
ORPHA:261318 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... |
OMIM:300835 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Short neck, Colpocephaly |
OMIM:619955 |
Joubert Syndrome 40 |
|
Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:619582 |
3Mc Syndrome |
|
Caudal appendage, Umbilical hernia, Prominent coccyx, Hyperlordosis, Spina bifida occulta, Scoliosis |
ORPHA:293843 |
Krabbe Disease |
|
Increased CSF protein concentration, Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Decereb... |
OMIM:245200 |
Incontinentia Pigmenti |
|
Cerebral cortical atrophy, Spasticity, Umbilical hernia, Hemiplegia/hemiparesis, Spina bifida occ... |
ORPHA:464 |
Cleidocranial Dysplasia |
|
Spina bifida occulta, Abnormal sacrum morphology, Scoliosis |
ORPHA:1452 |
Alexander Disease |
|
Spasticity, Chorea, Cerebral calcification, Tremor, Agenesis of corpus callosum, Short neck, Abno... |
ORPHA:58 |
Melanosis, Neurocutaneous |
|
Syringomyelia, Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Joubert Syndrome 28 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Occi... |
OMIM:616546 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral a... |
OMIM:272200 |
Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Hypoplasia of the brainstem, Microcephaly, Abnormal cerebral white matter morph... |
ORPHA:2169 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Duane Retraction Syndrome |
|
Blepharospasm, Abnormal form of the vertebral bodies, Microcephaly, Short neck, Oculomotor apraxi... |
ORPHA:233 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Cerebral calcification, Porencephalic cyst, Microcephaly, Spin... |
ORPHA:1393 |
Interstitial Lung And Liver Disease |
|
Anemia, Thrombocytosis |
OMIM:615486 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi... |
OMIM:615219 |
Walker-Warburg Syndrome |
|
Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Absent septum pelluc... |
ORPHA:899 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Ventriculomegaly, T2 hypointense basal ganglia, Open operculum, Chorea, ... |
ORPHA:25 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, Hyperlordosis |
OMIM:614198 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Butterfly vertebrae, Back pain, Kyphoscoliosis, Microcephaly, Short neck, Hydrocephalus, Thoracic... |
OMIM:613330 |
Congenital Toxoplasmosis |
|
Microcephaly, Ventriculomegaly, Cerebral calcification, Hydrocephalus |
ORPHA:858 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypertonia, A... |
ORPHA:2720 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Chiari malformation, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the cerebellum,... |
ORPHA:93262 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the co... |
ORPHA:475 |
Even-Plus Syndrome |
|
Agenesis of corpus callosum, Dysplastic corpus callosum, Short neck, Vertebral clefting, Coronal ... |
OMIM:616854 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hemiplegia, Hydrocephalus, Scoliosis, Kyphosis |
ORPHA:2181 |
Glutaric Acidemia I |
|
Lateral ventricle dilatation, Rigidity, Opisthotonus, Hydrocephalus, Choreoathetosis, Spastic dip... |
OMIM:231670 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Ventriculomegaly, Thoracic hemivertebrae, Thoracic kyphosis, Periventricular leukomalacia, Hypopl... |
ORPHA:508498 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:272 |
Trisomy 18 |
|
Chiari malformation, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spina bifida, Hyper... |
ORPHA:3380 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal medulla oblongata mor... |
ORPHA:68 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Thoracic scoliosis, Hydrocep... |
OMIM:603387 |
Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Oculomotor apraxia, Molar t... |
OMIM:618161 |
Joubert Syndrome 8 |
|
Ataxia, Occipital encephalocele, Oculomotor apraxia, Hypertonia, Molar tooth sign on MRI |
OMIM:612291 |
Larsen Syndrome |
|
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Beaking of vertebral bodies, Sp... |
OMIM:150250 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Speech apraxia, Hypoplasia of the corpus callosum... |
OMIM:609757 |
Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... |
ORPHA:220460 |
Glioblastoma |
|
Abnormal corpus callosum morphology, Paralysis, Abnormal cerebral white matter morphology, Cerebr... |
ORPHA:360 |
Joubert Syndrome 20 |
|
Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:614970 |
Peho Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Microcephaly, Hydrocephalus, Atr... |
ORPHA:2836 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Microcephaly, Short neck, Spina bifida, Hemivertebrae, Scoliosis, Dandy-Walker ... |
ORPHA:99776 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar verm... |
OMIM:213300 |
Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume |
ORPHA:84064 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Hypoplasia of the corpus callosum... |
OMIM:619179 |
Metatropic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal in... |
ORPHA:2635 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Sple... |
OMIM:612840 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Agenesis of corpus callosum, Hydrocephalus, Hemivertebrae, Holopro... |
ORPHA:77298 |
Arnold-Chiari Malformation Type I |
|
Myelopathy, Brain stem compression, Gait ataxia, Chiari type I malformation, Syringomyelia, Babin... |
ORPHA:268882 |
Large Congenital Melanocytic Nevus |
|
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma |
ORPHA:626 |
Brucellosis |
|
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung abscess, Thrombocytopenia,... |
ORPHA:1304 |
Arachnoid Cyst |
|
Enlarged fossa interpeduncularis, Chiari malformation, Sciatica, Tetraparesis, Posterior fossa cy... |
ORPHA:2356 |
Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Scoliosis, Fused cervical vertebrae |
OMIM:607323 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventriculomegaly, Dural ectasia, Cervical spinal canal stenosis, Speech apraxia, Spondylolisthesi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ventriculomegaly, Dural ectasia, Cervical spinal canal stenosis, Speech apraxia, Spondylolisthesi... |
ORPHA:363958 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocepha... |
OMIM:613001 |
Coach Syndrome 3 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia |
OMIM:619113 |
Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Lumbar hyperlordosis, Hypoplasia of the corpus callosum, Oculomotor... |
OMIM:619185 |
Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Oculomotor apraxia, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:619562 |
Joubert Syndrome 10 |
|
Dysmetria, Cerebellar vermis hypoplasia, Microcephaly, Molar tooth sign on MRI |
OMIM:300804 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral wedging, Calcification of falx cerebri, Kyphoscoliosis, Hydrocephalus, Spina bifida, He... |
OMIM:109400 |
47,Xyy Syndrome |
|
Abnormal brainstem morphology, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydroce... |
ORPHA:8 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly, Increased CSF lactate, Hypertonia |
OMIM:604273 |
Hydrolethalus |
|
Absent septum pellucidum, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Splenomegaly, Increased mean platelet volume |
OMIM:222470 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Microcephaly, Hydrocephalus |
OMIM:300558 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Clumsiness, Noncommunicating hydrocephalus, Agenesis of corpus callosum |
OMIM:619320 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Torticollis, Partial agenesis of the corpus callosum, Thin corpus callosum, Scolios... |
OMIM:619480 |
3Mc Syndrome 1 |
|
Caudal appendage, Sacral dimple, Microcephaly, Spina bifida occulta, Wide anterior fontanel |
OMIM:257920 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary microcephaly, Dilated fourth... |
OMIM:619306 |
Noonan Syndrome With Multiple Lentigines |
|
Spina bifida occulta, Scoliosis |
ORPHA:500 |
Coach Syndrome 1 |
|
Cerebellar vermis hypoplasia, Spasticity, Occipital encephalocele, Encephalocele, Oculomotor apra... |
OMIM:216360 |
Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Ventriculomegaly, Encephalocele, Hydrocephalus, Holoprosencephaly, Kyphosis |
ORPHA:93274 |
Baller-Gerold Syndrome |
|
Abnormal vertebral morphology, Chiari malformation, Polymicrogyria, Agenesis of corpus callosum, ... |
OMIM:218600 |
Townes-Brocks Syndrome 2 |
|
Spina bifida occulta, Scoliosis |
OMIM:617466 |
Rubinstein-Taybi Syndrome 1 |
|
Incoordination, Agenesis of corpus callosum, Microcephaly, Hyperintensity of cerebral white matte... |
OMIM:180849 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Cerebral atrophy |
OMIM:614857 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Polymicrogyria, Hemiplegia/hemipares... |
ORPHA:1647 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Short neck, Hydrocephalus, Punctate vertebral calcifications |
ORPHA:1914 |
Gardner Syndrome |
|
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... |
ORPHA:79665 |
Dural Sinus Malformation |
|
Myelopathy, Tetraparesis, Abnormal cerebellum morphology, Hemiparesis, Hypoplasia of the frontal ... |
ORPHA:97339 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... |
OMIM:175100 |
1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Scoliosis |
ORPHA:238769 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum |
ORPHA:459061 |
Sirenomelia |
|
Absence of the sacrum, Sirenomelia, Spina bifida |
ORPHA:3169 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Cerebral calcification, Hypoplasi... |
OMIM:616538 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebral cortical atrophy, Ventriculomegaly, Spasticity, Cerebral atrophy, Hemiplegia, Cerebral c... |
ORPHA:2396 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia... |
ORPHA:444072 |
Rhombencephalosynapsis |
|
Ventriculomegaly, Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Hydr... |
ORPHA:59315 |
Rabin-Pappas Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Chiari type I m... |
OMIM:620155 |
Focal Facial Dermal Dysplasia Type Iv |
|
Microcephaly, Hydrocephalus, Hemiparesis |
ORPHA:398189 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Spina bifida occulta, Short neck, Torticollis |
OMIM:611929 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
6P22 Microdeletion Syndrome |
|
Short neck, Hydrocephalus |
ORPHA:251046 |
Infantile Myofibromatosis |
|
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... |
ORPHA:2591 |
Jacobsen Syndrome |
|
Ventriculomegaly, Abnormal form of the vertebral bodies, Cerebral atrophy, Agenesis of corpus cal... |
ORPHA:2308 |
Frontometaphyseal Dysplasia |
|
Spina bifida occulta, Scoliosis, Chiari malformation, Fused cervical vertebrae |
ORPHA:1826 |
Neu-Laxova Syndrome 1 |
|
Lissencephaly, Hydranencephaly, Ventriculomegaly, Small placenta, Short umbilical cord, Agenesis ... |
OMIM:256520 |
Focal Dermal Hypoplasia |
|
Chiari malformation, Umbilical hernia, Myelomeningocele, Agenesis of corpus callosum, Microcephal... |
OMIM:305600 |
Hypokalemic Periodic Paralysis |
|
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis |
ORPHA:681 |
Crouzon Syndrome |
|
Cerebellar hypoplasia, Abnormal sacrum morphology, Chiari malformation, Hydrocephalus |
ORPHA:207 |
Sacral Defect With Anterior Meningocele |
|
Dermal sinus tract, Hydromyelia, Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain... |
OMIM:600145 |
Emanuel Syndrome |
|
Ventriculomegaly, Chiari malformation, Cerebral atrophy, Sacral dimple, Agenesis of corpus callos... |
ORPHA:96170 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short neck, Hydrocephalus |
ORPHA:2183 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Pseudotrisomy 13 Syndrome |
|
Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, ... |
OMIM:264480 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Phakomatosis Pigmentokeratotica |
|
Scoliosis, Spina bifida, Hemiparesis |
ORPHA:2874 |
Desmosterolosis |
|
Ventriculomegaly, Spasticity, Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidu... |
ORPHA:35107 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Cerebral atrophy |
OMIM:269920 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Scoliosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Microcephaly, Hydrocephalus, Scoliosis, Tethered cord |
OMIM:617244 |
Coffin-Siris Syndrome 1 |
|
Umbilical hernia, Sacral dimple, Gait ataxia, Hypoplasia of the corpus callosum, Microcephaly, Sp... |
OMIM:135900 |
Cerebral Visual Impairment |
|
Focal cortical dysplasia, Cerebral palsy, Ischemic stroke, Clumsiness, Microcephaly, Oculomotor a... |
ORPHA:447788 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Oculomotor apraxia, Hydrocephalus |
OMIM:615630 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ventriculomegaly, Spastic paraparesis, Abnormal periventricular white matter morphology, Hemipare... |
ORPHA:395 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Posterior scalloping of vertebral bodies, Caudal interpedicular narrowing, Sco... |
OMIM:603546 |
Poland Syndrome |
|
Encephalocele, Vertebral segmentation defect, Microcephaly, Short neck, Hemivertebrae, Spina bifi... |
ORPHA:2911 |
Trisomy 1Q |
|
Cerebellar hypoplasia, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:261344 |
Holoprosencephaly |
|
Spasticity, Spinal dysraphism, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the c... |
ORPHA:2162 |
Medulloblastoma |
|
Cerebellar ataxia associated with quadrupedal gait, Intention tremor, Dysmetria, Back pain, Hydro... |
ORPHA:616 |
Hallermann-Streiff Syndrome |
|
Microcephaly, Hyperlordosis, Spina bifida, Scoliosis, Choreoathetosis |
OMIM:234100 |
Zimmermann-Laband Syndrome 1 |
|
Spina bifida occulta, Oculomotor apraxia, Scoliosis, Umbilical hernia |
OMIM:135500 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... |
ORPHA:488627 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Polymicrogyria, Agenesis ... |
OMIM:620305 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Chiari malformation, Polymicrogyria, Aplasia/Hypoplasia of the cerebellum, Hydr... |
ORPHA:60040 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hypoplastic coccygeal vertebrae, Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar ... |
OMIM:619512 |
Tick-Borne Encephalitis |
|
Tongue fasciculations, Abnormal medulla oblongata morphology, Myelitis, Incoordination, Speech ap... |
ORPHA:297 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the... |
OMIM:618590 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventriculomegaly, Abnormal cortical gyration, Cerebellar atrophy, Cerebral atrophy, Hypoplasia of... |
OMIM:614576 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, ... |
ORPHA:457284 |
Nail-Patella Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Spina bifida, Back pain |
OMIM:161200 |
Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Periventricular cysts, Dysplas... |
ORPHA:544488 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, C... |
OMIM:620371 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Thanatophoric Dysplasia |
|
Platyspondyly, Ventriculomegaly, Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis |
ORPHA:2655 |
Unilateral Polymicrogyria |
|
Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Myoclonus, Hemiparesis, Microc... |
ORPHA:268943 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Spina bifida occulta |
OMIM:300707 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Cerebral hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microc... |
OMIM:257300 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Abnormal basal ganglia morp... |
ORPHA:157 |
Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Scoliosis, Gait ataxia, Hydrocephalus |
OMIM:616355 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Microcephaly, Scoliosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:612940 |
Lateral Meningocele Syndrome |
|
Dural ectasia, Kyphosis, Umbilical hernia, Biconcave vertebral bodies, Chiari type I malformation... |
OMIM:130720 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Lissencephaly, Umbilical hernia, Secondary microcephaly, Short neck, Hydrocephalus, Hypertonia, D... |
OMIM:612938 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:1812 |
Emanuel Syndrome |
|
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalu... |
OMIM:609029 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Agenesis of corpus callosum, Short neck, Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Decreased cervical spine mobility |
ORPHA:71272 |
Oculoskeletodental Syndrome |
|
Focal white matter lesions, Dysplastic corpus callosum, Hyperlordosis, Scoliosis, Thoracic kyphosis |
ORPHA:557003 |
Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle res... |
OMIM:272750 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypoplasia of the brainstem, Agenesis of c... |
OMIM:610828 |
Leopard Syndrome 1 |
|
Spina bifida occulta, Short neck, Kyphoscoliosis |
OMIM:151100 |
Kawasaki Disease |
|
Leukocytosis, Thrombocytosis |
ORPHA:2331 |
Triploidy |
|
Aplasia/Hypoplasia of the corpus callosum, Short neck, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Doors Syndrome |
|
Polymicrogyria, Sirenomelia, Myoclonus, Small cerebellar cortex, Lumbar scoliosis, Microcephaly, ... |
ORPHA:79500 |
Apert Syndrome |
|
Ventriculomegaly, Chiari malformation, Cervical C5/C6 vertebrae fusion, Absent septum pellucidum,... |
ORPHA:87 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Hypertonia |
ORPHA:1895 |
Spinocerebellar Ataxia Type 3 |
|
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... |
ORPHA:98757 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Intracerebral periventricular cal... |
ORPHA:228308 |
Achondroplasia |
|
Brain stem compression, Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Severe pl... |
OMIM:100800 |
Williams Syndrome |
|
Cerebral cortical atrophy, Spasticity, Involuntary movements, Chiari malformation, Abnormal form ... |
ORPHA:904 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Spasticity, Cerebellar hypoplasia |
OMIM:618810 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Aplasia/Hypoplasia of the corpus callosum,... |
ORPHA:1454 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Caudal appendage, Hypoplasia of the corpus callos... |
ORPHA:314679 |
Orofaciodigital Syndrome Xvi |
|
Ventriculomegaly, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia |
OMIM:617563 |
Peters Plus Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Umbilical hernia, Aplasia/Hypoplasia of the corpus c... |
ORPHA:709 |
Desmoplastic Small Round Cell Tumor |
|
Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm of the lung, N... |
ORPHA:83469 |
B4Galt1-Cdg |
|
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Microcephaly, Vocal cord paralysis |
ORPHA:2375 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon |
OMIM:601374 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Hydrocephalus, Hemivertebrae |
ORPHA:2180 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:612863 |
Desmosterolosis |
|
Ventriculomegaly, Spasticity, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hydrocepha... |
OMIM:602398 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Hypothalamic hamartoma... |
OMIM:277170 |
Temple Syndrome |
|
Scoliosis, Hydrocephalus |
ORPHA:254516 |
Tenorio Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Cerebral palsy, Clumsiness, Hydrocephalus, Cavum sep... |
OMIM:616260 |
Joubert Syndrome 17 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
Retinoblastoma |
|
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma |
OMIM:180200 |
Campomelic Dysplasia |
|
Spinal dysraphism, Hypoplastic cervical vertebrae, Cervical kyphosis, Kyphoscoliosis, Thoracic sc... |
OMIM:114290 |
Lhermitte-Duclos Disease |
|
Polymicrogyria, Enlarged cerebellum, Hydrocephalus, Ataxia |
ORPHA:65285 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Hydrocephalus |
ORPHA:2701 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Bresek Syndrome |
|
Microcephaly, Scoliosis, Hydrocephalus, Hemivertebrae |
ORPHA:85284 |
Imagawa-Matsumoto Syndrome |
|
Polymicrogyria, Umbilical hernia, Agenesis of corpus callosum |
OMIM:618786 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Vici Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal posturing, Agenesis of corpus callosum, Microcephaly, Schi... |
OMIM:242840 |
Amelocerebrohypohidrotic Syndrome |
|
Spasticity, Hydrocephalus |
ORPHA:1946 |
Griscelli Syndrome |
|
Hydrocephalus, Spasticity, Encephalocele, Ataxia |
ORPHA:381 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Ventriculomegaly, Hypoplasia of the corpus callosum, Cerebellar hy... |
OMIM:300514 |
Ulnar Hemimelia |
|
Scoliosis, Spinal dysraphism, Butterfly vertebrae |
ORPHA:93320 |
Focal Dermal Hypoplasia |
|
Scoliosis, Spina bifida, Umbilical hernia |
ORPHA:2092 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Spina bifida occulta, Short neck |
ORPHA:488434 |
Femoral-Facial Syndrome |
|
Ventriculomegaly, Absent vertebra, Dysplastic sacrum, Encephalocele, Agenesis of corpus callosum,... |
OMIM:134780 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Abnormally ossified vertebrae, Agenesis of corpus callosum |
ORPHA:3301 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Oculomotor apraxia, Thickened superior cerebellar peduncle, Molar tooth ... |
OMIM:610188 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618010 |
Leukocyte Adhesion Deficiency |
|
Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, Leukocytosis, Impaired neutro... |
ORPHA:2968 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida, Supernumerary vertebrae |
OMIM:193500 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis, Abnormal cerebral white matter morphology |
ORPHA:83601 |
Amyotrophic Lateral Sclerosis |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Babinski sign, Paralysis, Motor neuron... |
ORPHA:803 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida, Hemivertebrae |
ORPHA:93929 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Syringomyelia, Spina bifida, Cavum septum pe... |
OMIM:274000 |
Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Popliteal Pterygium Syndrome |
|
Spina bifida occulta |
OMIM:119500 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Hypertonia, Ataxia |
ORPHA:31 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Snakebite Envenomation |
|
Respiratory paralysis, Paralysis, Pseudobulbar paralysis |
ORPHA:449285 |
Tetrasomy 15Q26 |
|
Syringomyelia, Hydrocephalus, Dandy-Walker malformation, Kyphoscoliosis |
OMIM:614846 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, H... |
OMIM:243605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Spasticity, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysp... |
OMIM:253280 |
Oculoauricular Syndrome |
|
Spina bifida occulta |
OMIM:612109 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Cerebellar hypoplasia, Platyspondyly, Hydrocephalus |
ORPHA:163966 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Chiari malformation, Hydrocephalus |
ORPHA:93259 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Ventriculomegaly, Dilated third ventricle, Periventricular leukomalacia, Hypoplasia of the corpus... |
ORPHA:500055 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Spastic tetraparesis, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:614924 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Secondary microcephaly, Hypoplasia of the corpus callosum, Thoracic scoliosis, Sh... |
ORPHA:508488 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
3C Syndrome |
|
Ventriculomegaly, Short neck, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hemivertebrae,... |
ORPHA:7 |
Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Focal polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum, Ap... |
OMIM:612651 |
X-Linked Adrenoleukodystrophy |
|
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis |
ORPHA:43 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Spasticity |
OMIM:619423 |
Toxin-Mediated Infectious Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy |
ORPHA:230800 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Ventriculomegaly, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Hypoplasia o... |
OMIM:619479 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Focal polymicrogyria, Dysplastic corpus callosum, Microcephaly, Partial agene... |
OMIM:619103 |
Pagod Syndrome |
|
Microcephaly, Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Ritscher-Schinzel Syndrome 1 |
|
Hemivertebrae, Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Increased CSF protein concentration, Paralysis |
OMIM:612300 |
Meckel Syndrome, Type 1 |
|
Ventriculomegaly, Cerebral hypoplasia, Chiari malformation, Occipital encephalocele, Dilated four... |
OMIM:249000 |
Temple Syndrome |
|
Scoliosis, Hydrocephalus |
OMIM:616222 |
22Q11.2 Deletion Syndrome |
|
Umbilical hernia, Microcephaly, Parkinsonism, Short neck, Hydrocephalus, Spina bifida, Meningocel... |
ORPHA:567 |
Thanatophoric Dysplasia, Type I |
|
Platyspondyly, Temporal lobe dysplasia, Short neck, Severe platyspondyly, Hydrocephalus |
OMIM:187600 |
Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:457077 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Spina bifida occulta |
ORPHA:500095 |
Adams-Oliver Syndrome |
|
Periventricular leukomalacia, Encephalocele, Hemiparesis, Hydrocephalus, Hypertonia, Porencephali... |
ORPHA:974 |
Fanconi Anemia |
|
Ventriculomegaly, Umbilical hernia, Microcephaly, Hydrocephalus, Spina bifida, Scoliosis |
ORPHA:84 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Tetrasomy 5P |
|
Pericallosal lipoma, Cerebellar hypoplasia, Short neck, Hydrocephalus, Wide anterior fontanel |
ORPHA:3309 |
Axial Mesodermal Dysplasia Spectrum |
|
Cerebral cortical atrophy, Abnormal form of the vertebral bodies, Vertebral segmentation defect, ... |
ORPHA:1834 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue fasciculations, Abnormal cerebellum morphology, Ankle clonus, Clumsiness, Vocal cord paral... |
OMIM:211530 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Thakker-Donnai Syndrome |
|
Agenesis of corpus callosum, Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae, Communic... |
ORPHA:1780 |
Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Ventriculomegaly, Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, W... |
ORPHA:1860 |
Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Ventriculomegaly, Hypoplasia of the odontoid process, Cerebral atrophy,... |
OMIM:602535 |
Trisomy 17P |
|
Microcephaly, Short neck, Hydrocephalus, Hypertonia, Scoliosis |
ORPHA:261290 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Scoliosis, Tethered cord |
OMIM:612918 |
Achondroplasia |
|
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Hydrocephalus, Spin... |
ORPHA:15 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Abnormally o... |
ORPHA:175 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Short neck, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Ventriculomegaly, Chiari malformation, Hydrocephalus, Agenesis of corpus callosum |
OMIM:123790 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... |
ORPHA:3261 |
Plasminogen Deficiency, Type I |
|
Cerebellar hypoplasia, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:217090 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Scoliosis, Vertebral compression fracture, Hydrocephalus |
OMIM:112240 |
Alobar Holoprosencephaly |
|
Spasticity, Abnormal central motor function, Abnormal brainstem morphology, Agenesis of corpus ca... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Spasticity, Abnormal central motor function, Abnormal brainstem morphology, Agenesis of corpus ca... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Spasticity, Abnormal central motor function, Abnormal brainstem morphology, Agenesis of corpus ca... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Spasticity, Abnormal central motor function, Abnormal brainstem morphology, Agenesis of corpus ca... |
ORPHA:220386 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplasia of the corpus callosum, Hydrocephalus, Kyphosis, ... |
OMIM:616482 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Brain stem compression, Abnormal cerebellum morphology, Hemiparesis, Hydrocephalus, S... |
ORPHA:637 |
Congenital Sialidosis Type 2 |
|
Spasticity, Umbilical hernia, Myoclonus, Dysmetria, Hydrocephalus, Ataxia |
ORPHA:93400 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Increased CSF protein concentration, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Cerebral... |
OMIM:203700 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cerebral atrophy, Microcephaly, Hydrocephalus, Wide anterior fontanel |
OMIM:614886 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Cerebral atrophy, Myelomeningocele, Porencephalic cyst, Agenesis of c... |
OMIM:311200 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Hydrocephalus |
OMIM:300863 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus |
OMIM:614195 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Polymicrogyria, Hypoplasia of the corpus c... |
OMIM:615948 |
15Q Overgrowth Syndrome |
|
Agenesis of corpus callosum, Syringomyelia, Hydrocephalus, Abnormal coccyx morphology, Scoliosis,... |
ORPHA:314585 |
Werner Syndrome |
|
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... |
ORPHA:902 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small intestine, Gastrointestinal str... |
ORPHA:44890 |
Arima Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Brainstem dy... |
OMIM:243910 |
Lowry-Maclean Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Hemiparesis |
ORPHA:2409 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
Fg Syndrome Type 1 |
|
Ventriculomegaly, Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, Abnormal cerebellu... |
ORPHA:93932 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Hyperlordosis, Thic... |
OMIM:617011 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spastic paraplegia, Hypoglycorrhachia, Intracerebral periventricular calcifications, Microcephaly... |
ORPHA:168577 |
Neonatal Lupus Erythematosus |
|
Basal ganglia calcification, Abnormal cerebral white matter morphology, Hydrocephalus |
ORPHA:398124 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia |
OMIM:617718 |
Apert Syndrome |
|
Ventriculomegaly, Cervical C5/C6 vertebrae fusion, Absent septum pellucidum, Agenesis of corpus c... |
OMIM:101200 |
Marden-Walker Syndrome |
|
Abnormal form of the vertebral bodies, Absent septum pellucidum, Agenesis of corpus callosum, Cer... |
ORPHA:2461 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
Foodborne Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy |
ORPHA:228371 |
Wolcott-Rallison Syndrome |
|
Lymphocytosis, Iron deficiency anemia, Neutropenia |
ORPHA:1667 |
Opitz-Kaveggia Syndrome |
|
Spasticity, Umbilical hernia, Lumbar hyperlordosis, Short neck, Hydrocephalus, Partial agenesis o... |
OMIM:305450 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Anisospondyly, Encephalocele, Microcephaly, Short neck, Hydrocephalus |
ORPHA:1865 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Ventriculomegaly, Vertebral wedging, Choroid plexus cyst, Hydrocephalus |
OMIM:617866 |
Monosomy 18Q |
|
Diffuse white matter abnormalities, Kyphoscoliosis, Cerebellar hypoplasia, Microcephaly, Hydrocep... |
ORPHA:1600 |
Basal Cell Nevus Syndrome 2 |
|
Calcification of falx cerebri, Hydrocephalus |
OMIM:620343 |
Osteopetrosis, Autosomal Recessive 5 |
|
Diffuse white matter abnormalities, Ventriculomegaly, Cerebral atrophy, Microcephaly, Clonus, Hyd... |
OMIM:259720 |
Osteopetrosis, Autosomal Recessive 2 |
|
Facial paralysis, Hydrocephalus |
OMIM:259710 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Chiari type I malformation, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Osteopetrosis, Autosomal Recessive 1 |
|
Facial paralysis, Hydrocephalus, Sandwich appearance of vertebral bodies |
OMIM:259700 |
Yellow Nail Syndrome |
|
Biliary tract neoplasm, Neoplasm, Renal neoplasm, Sarcoma, Neoplasm of the lung |
ORPHA:662 |
Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Oculomotor apraxia, Molar to... |
OMIM:619476 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
1Q21.1 Microdeletion Syndrome |
|
Microcephaly, Scoliosis, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:250989 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Increased CSF lactate, Ischemic stroke, Hydrocephalus, Hyperglycorrhachia |
ORPHA:90065 |
Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Tremor, Hypothalamic ham... |
ORPHA:2754 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Poliomyelitis |
|
Myelitis, Fasciculations, Hyperkinetic movements, Paralysis, Paraparesis |
ORPHA:2912 |
Orofaciodigital Syndrome Type 14 |
|
Dilated third ventricle, Open operculum, Dilated fourth ventricle, Hypoplasia of the corpus callo... |
ORPHA:434179 |
Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Kyphosis, Hydrocephalus |
OMIM:616294 |
Mucopolysaccharidosis, Type Vii |
|
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... |
OMIM:253220 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Microcephaly, Spasticity, Hypoplasia of the corpus callosum |
OMIM:618569 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cerebellar hypoplasia... |
ORPHA:2166 |
Distal Triplication 15Q |
|
Syringomyelia, Hydrocephalus, Scoliosis, Kyphosis, Dandy-Walker malformation |
ORPHA:314588 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Microcephaly, Scoliosis, Hydrocephalus |
ORPHA:2075 |
Congenital Myopathy 22A, Classic |
|
Frequent falls, Thoracic scoliosis, Normal pressure hydrocephalus, Scoliosis, Kyphosis, Spinal ri... |
OMIM:620351 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Cerebral cortical atrophy, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Sp... |
OMIM:616007 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Vater/Vacterl Association |
|
Abnormal vertebral morphology, Occipital encephalocele, Spina bifida, Patent urachus, Scoliosis, ... |
OMIM:192350 |
Monosomy 9Q22.3 |
|
Ventriculomegaly, Chiari malformation, Abnormality of the vertebral column, Umbilical hernia, Cal... |
ORPHA:77301 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Cerebral cortical atrophy, Athetosis, Hydrocephalus |
OMIM:239300 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Hydrocephalus, Sacral dimple |
OMIM:314390 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Chiari malformation, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis o... |
OMIM:618820 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus, Short neck, Encephalocele |
OMIM:224400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus |
OMIM:309801 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Pfeiffer Syndrome |
|
Chiari malformation, Hydrocephalus |
OMIM:101600 |
Histiocytoid Cardiomyopathy |
|
Cerebellar malformation, Hemiplegia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:137675 |
Mucopolysaccharidosis, Type Ii |
|
Umbilical hernia, Cervical cord compression, Short neck, Hydrocephalus, Kyphosis |
OMIM:309900 |
Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Encephalocele, Hypoplasia of the corpus callosum,... |
OMIM:605627 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Spastic paraparesis, Cerebral palsy, Spinal canal stenosis, Short ... |
ORPHA:93473 |
Cardiofaciocutaneous Syndrome 1 |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the frontal l... |
OMIM:115150 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Scoliosis, Hydrocephalus |
OMIM:619951 |
Retinoblastoma |
|
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... |
ORPHA:790 |
Laryngeal Abductor Paralysis |
|
Microcephaly, Vocal cord paralysis |
OMIM:150260 |
Whipple Disease |
|
Abnormal pyramidal sign, Myoclonus, Hydrocephalus, Ataxia |
ORPHA:3452 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Alobar holoprosencephaly, Microcephaly, Short neck, Hydrocephalus, Th... |
OMIM:610829 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Scoliosis, Anencephaly, Encephalocele |
ORPHA:1335 |
Rift Valley Fever |
|
Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Back pain, CSF pleocytosis |
ORPHA:319251 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
Otopalatodigital Syndrome, Type Ii |
|
Platyspondyly, Spondylolysis, Umbilical hernia, Kyphoscoliosis, Short neck, Hydrocephalus, Spina ... |
OMIM:304120 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Scoliosis, Abnormal verteb... |
ORPHA:90652 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Thoracolumbar kyphosis, Spastic paraplegia, Ventriculomegaly, Limb ataxia, Hypoplasia of the corp... |
ORPHA:2072 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Umbilical hernia, Chiari type I malformation, Microcephaly, Hydrocephalus, C1-C2 vertebral abnorm... |
OMIM:182212 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Cerebral calcification, Calcification of falx c... |
ORPHA:377 |
Sturge-Weber Syndrome |
|
Cerebral cortical atrophy, Cerebral calcification, Chiari malformation, Hydrocephalus |
ORPHA:3205 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Diffuse white matter abnormalities, Ventriculomegaly, Cerebral cortical atrophy, Lumbar hyperlord... |
ORPHA:457359 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Platyspondyly, Cerebellar vermis hypoplasia, Cerebral hypoplasia, Abnormal cortical gyration, Lat... |
OMIM:210710 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Microcephaly, Spasticity, Hydrocephalus, Ataxia |
ORPHA:220295 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Scoliosis, Periodic paralysis, Periodic hypokalemic paresis |
ORPHA:37553 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Ventriculomegaly, Microcephaly, Hydrocephalus, Sacral dimple, Megalencephaly |
OMIM:613603 |
Multiple Sulfatase Deficiency |
|
Microcephaly, Hydrocephalus |
ORPHA:585 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Dural ectasia, Kyphosis, Hydrocephalus |
OMIM:616914 |
Hurler Syndrome |
|
Hypoplasia of the odontoid process, Umbilical hernia, Biconcave vertebral bodies, Short neck, Hyd... |
OMIM:607014 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Mucopolysaccharidosis Type 1 |
|
Abnormal form of the vertebral bodies, Spinal canal stenosis, Hemiplegia/hemiparesis, Hydrocephal... |
ORPHA:579 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Hypoplasia of the odontoid process, Umbilical hernia, Anterior wedging of L1... |
OMIM:253200 |
Meningioma |
|
Brain stem compression, Hemifacial spasm, Abnormal central motor function, Abnormal cerebellum mo... |
ORPHA:2495 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations |
ORPHA:682 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ventriculomegaly, Spasticity, Abnormal form of the vertebral bodies, Umbilica... |
ORPHA:581 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Microcephaly, Spina bifida |
OMIM:614437 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Leukoencephalopathy, Spasticity, Cerebellar atrophy, Facial paralysis, Focal cortical dysplasia, ... |
OMIM:175780 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly, Atlantoaxial dislocation, Congenital kyphoscoliosis, Kyphoscoliosis, Beaking of ve... |
ORPHA:536467 |
7Q11.23 Microduplication Syndrome |
|
Ventriculomegaly, Dysmetria, Cerebellar hypoplasia, Short neck, Hydrocephalus, Hemivertebrae, Sac... |
ORPHA:96121 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Mirage Syndrome |
|
Paraplegia, Scoliosis, Hydrocephalus |
OMIM:617053 |
Mend Syndrome |
|
Wide anterior fontanel, Hypoplasia of the corpus callosum, Limb hypertonia, Hydrocephalus, Dandy-... |
ORPHA:401973 |
Zttk Syndrome |
|
Ventriculomegaly, Spasticity, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dy... |
OMIM:617140 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus, Umbilical hernia |
OMIM:601499 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Exstrophy-Epispadias Complex |
|
Microcephaly, Hydrocephalus, Spina bifida |
ORPHA:322 |
Alpha-Mannosidosis, Infantile Form |
|
Platyspondyly, Spastic paraplegia, Cerebral cortical atrophy, Chiari malformation, Cerebellar atr... |
ORPHA:309282 |
Crouzon Syndrome |
|
Abnormality of the cervical spine, Hydrocephalus |
OMIM:123500 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cerebellar hypoplasia, Dandy-Walker malformation, Encephalocele, Molar tooth sign on MRI |
OMIM:616300 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Leukoencephalopathy, Cerebral atrophy, Periventricular white matter hyperintensities, Microcephal... |
ORPHA:79282 |
Fanconi Anemia, Complementation Group D2 |
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Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:227646 |
Trisomy 8P |
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Agenesis of corpus callosum, Microcephaly, Short neck, Hydrocephalus, Dandy-Walker malformation, ... |
ORPHA:264450 |
Porphyria, Acute Intermittent |
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Respiratory paralysis, Paralysis |
OMIM:176000 |
Smith-Lemli-Opitz Syndrome |
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Cerebellar atrophy, Sacral dimple, Hypoplasia of the corpus callosum, Hypoplasia of the frontal l... |
OMIM:270400 |
Primary Ciliary Dyskinesia |
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Ventriculomegaly, Hydrocephalus |
ORPHA:244 |
Ventriculomegaly With Cystic Kidney Disease |
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Ventriculomegaly, Hydrocephalus |
OMIM:219730 |
Cousin Syndrome |
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Hydranencephaly, Prominent protruding coccyx, Short neck, Hydrocephalus, Anterior rounding of ver... |
OMIM:260660 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
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Paralysis |
OMIM:242100 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
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Communicating hydrocephalus |
ORPHA:2184 |
Aymé-Gripp Syndrome |
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Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum, Chiari type I mal... |
ORPHA:1272 |
Osteogenesis Imperfecta |
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Ventriculomegaly, Cervical kyphosis, Brain stem compression, Abnormal form of the vertebral bodie... |
ORPHA:666 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Speech apraxia, Tremor, Kyphoscoliosis, Dysplastic corpus callosum, Cerebellar hypoplasia, Ataxia... |
OMIM:300967 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Ataxia, Ventriculomegaly, Spasticity, Kyphosis, Cerebral palsy, Spastic diplegia, Intention tremo... |
OMIM:619475 |
Proteus-Like Syndrome |
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Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
Heterotaxy, Visceral, 1, X-Linked |
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Block vertebrae, Absence of the sacrum, Myelomeningocele, Cerebellar hypoplasia, Hydrocephalus, A... |
OMIM:306955 |
Renal Tubular Acidosis Iii |
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Periodic paralysis |
OMIM:267200 |
Laurin-Sandrow Syndrome |
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Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2378 |
Shprintzen-Goldberg Syndrome |
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Ventriculomegaly, Chiari malformation, Abnormal form of the vertebral bodies, Umbilical hernia, M... |
ORPHA:2462 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Spinal canal stenosis, Narrow vertebral interpedicular distance, Hypoplastic vertebral bodies, Hy... |
OMIM:101800 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Microcephaly, Scoliosis, Periodic paralysis, Periodic hypokalemic paresis |
OMIM:170390 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Scoliosis, Hydrocephalus, Hemivertebrae, Umbilical hernia |
OMIM:104350 |
Paramyotonia Congenita Of Von Eulenburg |
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Periodic hypokalemic paresis |
ORPHA:684 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Lissencephaly, Spinal dysraphism, Large placenta, Kyphoscoliosis, Microcephaly, Short neck, Hemiv... |
ORPHA:96334 |
Orofaciodigital Syndrome Ii |
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Porencephalic cyst, Scoliosis, Hydrocephalus |
OMIM:252100 |
Beemer-Ertbruggen Syndrome |
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Communicating hydrocephalus |
ORPHA:1237 |
Acrofacial Dysostosis 1, Nager Type |
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Polymicrogyria, Abnormality of the cervical spine, Microcephaly, Hydrocephalus, Aqueductal stenos... |
OMIM:154400 |
Lenz-Majewski Hyperostotic Dwarfism |
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Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Scoliosis, Kyphosis |
ORPHA:2658 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Cerebral cortical atrophy, Tremor, Abnormality of extrapyramidal motor function, Microcephaly, Hy... |
OMIM:277400 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
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Hydrocephalus, Umbilical hernia |
ORPHA:1555 |
Kabuki Syndrome |
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Cerebral cortical atrophy, Ventriculomegaly, Abnormal form of the vertebral bodies, Butterfly ver... |
ORPHA:2322 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Platyspondyly, Short neck, Scoliosis, Hydrocephalus |
OMIM:245600 |
Hec Syndrome |
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Communicating hydrocephalus |
ORPHA:2119 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Chiari malformation, Hydrocephalus |
OMIM:618162 |
Gracile Bone Dysplasia |
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Hydrocephalus |
OMIM:602361 |
Wolf-Hirschhorn Syndrome |
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Ventriculomegaly, Kyphosis, Abnormal form of the vertebral bodies, Periventricular cysts, Absent ... |
OMIM:194190 |
Thyrotoxic Periodic Paralysis |
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Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia |
ORPHA:79102 |
African Trypanosomiasis |
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Involuntary movements, Ventriculomegaly, Myelitis, Myelopathy, Abnormal basal ganglia MRI signal ... |
ORPHA:3385 |
Neurofibromatosis Type 1 |
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Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... |
ORPHA:636 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Hydrocephalus, Wide anterior fontanel |
OMIM:207410 |
Hajdu-Cheney Syndrome |
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Chiari malformation, Hypoplastic 5th lumbar vertebrae, Umbilical hernia, Biconcave vertebral bodi... |
ORPHA:955 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Progressive ventriculomegaly, Ventriculomegaly, Chiari malformation, Lateral ventricle dilatation... |
ORPHA:500150 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Communicating hydrocephalus, Cerebral atrophy, Ataxia |
OMIM:616084 |
Meckel Syndrome |
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Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Hydrocephalus, Anencephal... |
ORPHA:564 |
Short-Rib Thoracic Dysplasia 12 |
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Short neck, Holoprosencephaly, Anencephaly, Hydrocephalus |
OMIM:269860 |
Cardiofaciocutaneous Syndrome |
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Cerebral cortical atrophy, Short neck, Scoliosis, Hydrocephalus |
ORPHA:1340 |
Jacobsen Syndrome |
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Spasticity, Microcephaly, Short neck, Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
Functioning Gonadotropic Adenoma |
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Hydrocephalus |
ORPHA:91348 |
Craniopharyngioma |
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Abnormal hypothalamus morphology, Cerebral calcification, Hydrocephalus |
ORPHA:54595 |
Ciliary Dyskinesia, Primary, 43 |
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Noncommunicating hydrocephalus |
OMIM:618699 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Lumbar hyperlordosis, Cerebral calcification, Lumbar kyphosis, Short neck, Hydrocephalus, Thoraci... |
ORPHA:505248 |
Oeis Complex |
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Absence of the sacrum, Chiari malformation, Myelomeningocele, Hydrocephalus, Hemivertebrae, Sacra... |
OMIM:258040 |
Thoracoabdominal Syndrome |
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Anencephaly, Hydrocephalus |
OMIM:313850 |
Wiedemann-Rautenstrauch Syndrome |
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Spasticity, Polymicrogyria, Abnormal corpus striatum morphology, Cervical vertebral dysplasia, Ac... |
ORPHA:3455 |
Kikuchi-Fujimoto Disease |
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Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:50918 |
Icf Syndrome |
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Communicating hydrocephalus, Umbilical hernia |
ORPHA:2268 |
Raine Syndrome |
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Microcephaly, Short neck, Cerebral calcification, Hydrocephalus |
OMIM:259775 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Communicating hydrocephalus |
ORPHA:1064 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Pseudobulbar paralysis, Speech apraxia, Hypoplasia of the corpus callosum, Kyphoscoliosis, Dyspla... |
ORPHA:466791 |
Cockayne Syndrome A |
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Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Basal ganglia calcification, Tremor, Micr... |
OMIM:216400 |
Fanconi Anemia, Complementation Group L |
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Cerebellar hypoplasia, Short neck, Hypoplastic sacrum, Hydrocephalus |
OMIM:614083 |
Acrofacial Dysostosis, Cincinnati Type |
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Ventriculomegaly, Abnormality of coordination, Myoclonus, Syringomyelia, Microcephaly, Lower limb... |
OMIM:616462 |
Hajdu-Cheney Syndrome |
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Tall lumbar vertebral bodies, Umbilical hernia, Biconcave vertebral bodies, Kyphoscoliosis, Short... |
OMIM:102500 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus |
ORPHA:3016 |
Mend Syndrome |
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Hydrocephalus, Hypertonia, Dandy-Walker malformation, Kyphosis, Sacral dimple |
OMIM:300960 |
Cockayne Syndrome B |
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Cerebral atrophy, Basal ganglia calcification, Tremor, Subcortical white matter calcifications, M... |
OMIM:133540 |
Schinzel-Giedion Syndrome |
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Cerebral cortical atrophy, Ventriculomegaly, Spasticity, Umbilical hernia, Hypoplasia of the corp... |
ORPHA:798 |
Congenital Syphilis |
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Large placenta, Hydrocephalus, CSF pleocytosis |
ORPHA:499009 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Cerebellar vermis hypoplasia, Poor coordination, Agenesis of corpus callosum, Mild fetal ventricu... |
OMIM:619841 |
Microphthalmia With Linear Skin Defects Syndrome |
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Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Sacral dimple |
ORPHA:2556 |
Osteootohepatoenteric Syndrome |
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Hydrocephalus |
OMIM:619377 |
Isotretinoin-Like Syndrome |
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Microcephaly, Hydrocephalus |
ORPHA:2306 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Cerebellar hypoplasia, Microcephaly, Hydrocephalus |
ORPHA:163979 |
Wiedemann-Rautenstrauch Syndrome |
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Chiari malformation, Agenesis of corpus callosum, Short neck, Hydrocephalus, Hypertonia, Truncal ... |
OMIM:264090 |
Hydrolethalus Syndrome 1 |
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Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum, Anencephaly, D... |
OMIM:236680 |
Coccidioidomycosis |
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Increased CSF protein concentration, Abnormality of the vertebral column, Hypoglycorrhachia, CSF ... |
ORPHA:228123 |
Gitelman Syndrome |
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Paralysis, Ataxia |
OMIM:263800 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Abnormal vertebral morphology, Chiari malformation, Hydrocephalus, Scoliosis, Wide anterior fontanel |
ORPHA:95699 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus |
ORPHA:2736 |
Dextrocardia |
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Hydrocephalus |
ORPHA:1666 |
H Syndrome |
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Hydrocephalus |
ORPHA:168569 |
Costello Syndrome |
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Ventriculomegaly, Cerebral atrophy, Enlarged cerebellum, Chiari type I malformation, Short neck, ... |
OMIM:218040 |
Knobloch Syndrome |
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Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Fetal Akinesia Deformation Sequence 1 |
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Small placenta, Short umbilical cord, Absent septum pellucidum, Cerebellar hypoplasia, Short neck... |
OMIM:208150 |
Ciliary Dyskinesia, Primary, 1 |
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Communicating hydrocephalus |
OMIM:244400 |
Fontaine Progeroid Syndrome |
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Platyspondyly, Cerebellar vermis hypoplasia, Umbilical hernia, Hypoplasia of the corpus callosum,... |
OMIM:612289 |
Cryptococcosis |
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Cerebral edema, Hydrocephalus, Cerebral cortical atrophy |
ORPHA:1546 |
Hyperparathyroidism, Transient Neonatal |
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Ventriculomegaly, Communicating hydrocephalus, Umbilical hernia |
OMIM:618188 |
Yunis-Varon Syndrome |
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Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Agenesis of corpus callosum, Primary micr... |
ORPHA:3472 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, Polymicrogyria, Hyp... |
OMIM:607872 |
Distal 22Q11.2 Microduplication Syndrome |
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Branchial fistula, Microcephaly, Hydrocephalus, Scoliosis, Sacral dimple |
ORPHA:261337 |
Gaucher Disease, Type Iiic |
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Hydrocephalus |
OMIM:231005 |
Osteopetrosis, Autosomal Recessive 3 |
|
Basal ganglia calcification, Cerebral calcification, Periodic hypokalemic paresis |
OMIM:259730 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Abnormal form of the vertebral bodies, Posterior scalloping of vertebral bodies, Hydrocephalus, S... |
ORPHA:3042 |
Kabuki Syndrome 1 |
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Abnormal vertebral morphology, Lateral ventricle dilatation, Microcephaly, Hydrocephalus, Scoliosis |
OMIM:147920 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Cerebellar cortical atrophy, Microcephaly, Hydrocephalus |
OMIM:619321 |
Gaucher Disease |
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Ventriculomegaly, Hemiplegia/hemiparesis, Tremor, Abnormality of extrapyramidal motor function, O... |
ORPHA:355 |
Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
Wilson Disease |
|
Poor motor coordination, Hand tremor, Face of the giant panda sign, Tremor, Rigidity, Abnormality... |
OMIM:277900 |
Tetrasomy 9P |
|
Lissencephaly, Umbilical hernia, Sacral dimple, Polymicrogyria, Short neck, Abnormal spinal cord ... |
ORPHA:3310 |
Peters-Plus Syndrome |
|
Ventriculomegaly, Cerebral atrophy, Umbilical hernia, Agenesis of corpus callosum, Microcephaly, ... |
OMIM:261540 |
Fraser Syndrome 1 |
|
Abnormal cortical gyration, Myelomeningocele, Encephalocele, Microcephaly, Hydrocephalus |
OMIM:219000 |
Craniofacial Microsomia 1 |
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Block vertebrae, Chiari malformation, Occipital encephalocele, Branchial anomaly, Agenesis of cor... |
OMIM:164210 |
Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
Loeys-Dietz Syndrome 1 |
|
Dural ectasia, Chiari malformation, Spondylolisthesis, Hydrocephalus, Scoliosis, Cervical spine i... |
OMIM:609192 |
Gitelman Syndrome |
|
Paralysis, Cerebral calcification |
ORPHA:358 |
Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Witteveen-Kolk Syndrome |
|
Poor motor coordination, Ventriculomegaly, Branchial fistula, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Hypoplasia of the corpus callosum, Kyphoscoliosis, Hyperlordosis, Hydroceph... |
ORPHA:363700 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Umbilical hernia, Agenesis of corpus callosum, Vertebral segmentati... |
OMIM:312870 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Pineoblastoma |
|
Paralysis, Midline brain calcifications |
ORPHA:251909 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Spasticity, Frontotemporal cerebral atrophy, Lateral ventricle dilatation, Hydrocephalus, Aqueduc... |
OMIM:619534 |
Loeys-Dietz Syndrome 2 |
|
Dural ectasia, Chiari malformation, Umbilical hernia, Spondylolisthesis, Hydrocephalus, Scoliosis |
OMIM:610168 |
Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Hydrocephalus |
ORPHA:1106 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hydrocephalus, Tremor |
ORPHA:667 |
Pseudoaminopterin Syndrome |
|
Hydrocephalus, Sacrococcygeal pilonidal abnormality |
ORPHA:221120 |
Coffin-Siris Syndrome 12 |
|
Chiari malformation, Hippocampal atrophy, Enlarged cerebellum, Microcephaly, Scoliosis, Noncommun... |
OMIM:619325 |
Liver Disease, Severe Congenital |
|
Leukopenia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Anemia |
OMIM:619991 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Scoliosis |
ORPHA:293987 |
Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Spinal cord compression, Irregularity of vertebral bodies, Umbilical... |
ORPHA:580 |
Tuberous Sclerosis Complex |
|
Cortical dysplasia, Subependymal nodules, Cortical tubers, Noncommunicating hydrocephalus |
ORPHA:805 |
Tyrosinemia, Type I |
|
Periodic paralysis |
OMIM:276700 |
Tsh-Secreting Pituitary Adenoma |
|
Periodic hypokalemic paresis, Tremor |
ORPHA:91347 |
Townes-Brocks Syndrome 1 |
|
Umbilical hernia, Microcephaly, Hydrocephalus, Holoprosencephaly, Tethered cord |
OMIM:107480 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
Roberts-Sc Phocomelia Syndrome |
|
Microcephaly, Short neck, Hydrocephalus, Frontal encephalocele |
OMIM:268300 |
Weaver Syndrome |
|
Scoliosis |
ORPHA:3447 |