Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
Myeloproliferative Syndrome, Transient |
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Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 69 |
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Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
Eosinophilia, Familial |
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Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Lymphatic Malformation 8 |
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Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
Acute Myelomonocytic Leukemia |
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Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Juvenile Temporal Arteritis |
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Eosinophilia, Leukocytosis |
ORPHA:26137 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Lymphatic Malformation 7 |
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Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Chronic Myeloid Leukemia |
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Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Polycythemia Vera |
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Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Isolated Posterior Meningocele |
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Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube... |
ORPHA:268810 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Craniorachischisis |
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Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Leukocytosis, Increased proportion of CD4-positive T cells, Lipodystrophy, Neutrophilia, Elevated... |
OMIM:617099 |
Developmental And Epileptic Encephalopathy 68 |
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Flexion contracture, Exaggerated startle response |
OMIM:618201 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Alg3-Cdg |
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Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
Hyperekplexia 2 |
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Hiatus hernia, Exaggerated startle response |
OMIM:614619 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Thrombocytopenia 2 |
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Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Anal Fistula |
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Cellulitis, Leukocytosis |
ORPHA:228113 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Hyperekplexia 3 |
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Hiatus hernia, Exaggerated startle response |
OMIM:614618 |
Hyperekplexia 1 |
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Inguinal hernia, Exaggerated startle response, Umbilical hernia |
OMIM:149400 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
Stiff-Person Syndrome |
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Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Flexion contracture, Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Multiple joint contractures, Exaggerated startle response |
ORPHA:320406 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Sacral Defect With Anterior Meningocele |
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Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
Cardiac Valvular Dysplasia 1 |
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Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... |
OMIM:212093 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Leukodystrophy, Hypomyelinating, 13 |
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Joint contracture, Exaggerated startle response |
OMIM:616881 |
Iniencephaly |
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Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Polyhydramnios, ... |
ORPHA:63259 |
Hereditary Chronic Pancreatitis |
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Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:676 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Limb joint contracture, Tremor, Exaggerated startle response |
OMIM:620327 |
Sandhoff Disease, Infantile Form |
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Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
Glycine Encephalopathy With Normal Serum Glycine |
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Elbow flexion contracture, Hip contracture, Exaggerated startle response, Flexion contracture, Ar... |
OMIM:617301 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Joint contracture, Exaggerated startle response |
OMIM:617864 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Tay-Sachs Disease |
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Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... |
ORPHA:845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Flexion contracture, Elevated circulating creatine kinase concentration, Exaggerated startle resp... |
OMIM:253800 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Hyperglycinemia, Thrombocytopenia, Exaggerated startle response, Dystonia, Hypernatremia |
OMIM:620423 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Exaggerated startle response |
ORPHA:438216 |
Gm1 Gangliosidosis Type 1 |
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Abnormal odontoid tissue morphology, Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
Combined Oxidative Phosphorylation Deficiency 58 |
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Hyperprolinemia, Hyperalaninemia, Exaggerated startle response |
OMIM:620451 |
Sandhoff Disease |
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Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
Plaa-Associated Neurodevelopmental Disorder |
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Dystonia, Contractures of the large joints, Exaggerated startle response |
ORPHA:521426 |
Asparagine Synthetase Deficiency |
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Hypoasparaginemia, Tremor, Exaggerated startle response |
OMIM:615574 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Contractures of the large joints, Exaggerated startle response |
OMIM:617527 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Alobar Holoprosencephaly |
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Abnormal heart morphology, Hydrocephalus, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Abnormal heart morphology, Hydrocephalus, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Abnormal heart morphology, Hydrocephalus, Neural tube defect |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Abnormal heart morphology, Hydrocephalus, Neural tube defect |
ORPHA:220386 |
Aprosencephaly And Cerebellar Dysgenesis |
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Aprosencephaly |
OMIM:601374 |
Schinzel-Giedion Syndrome |
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Abnormal heart morphology, Neural tube defect, Umbilical hernia |
ORPHA:798 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Decreased circulating iron concentration, Uterine prolapse, Exaggerated startle response, Anemia,... |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |