Attention Deficit-Hyperactivity Disorder |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
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Dystonia, Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
Smith-Magenis syndrome |
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Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 109 |
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Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Fraxe Intellectual Disability |
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Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity |
OMIM:620270 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
Intellectual Developmental Disorder, X-Linked 111 |
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Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia |
OMIM:301107 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Elbow flexion contracture, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:619470 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hepatomegaly, Dystonia, Hyperactivity, Tremor |
OMIM:615924 |
Guanidinoacetate Methyltransferase Deficiency |
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Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis |
ORPHA:382 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Self-injurious behavior, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Paroxysmal bursts of l... |
OMIM:618718 |
8p23.1 deletion syndrome |
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Congenital diaphragmatic hernia, Hyperactivity |
DECIPHER:39 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor, Aggressive behavior, Hyperactivi... |
ORPHA:3077 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:620141 |
Developmental And Epileptic Encephalopathy 68 |
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Flexion contracture, Failure to thrive, Exaggerated startle response |
OMIM:618201 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response |
ORPHA:309246 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Dysphagia, Hypoplastic spleen |
ORPHA:89844 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Blepharospasm, Oculogyric crisis, Limb dystonia, Tongue thrusting, Limb tremor, Torticollis, Exag... |
OMIM:608643 |
Hyperekplexia 2 |
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Hiatus hernia, Exaggerated startle response |
OMIM:614619 |
Gracile Bone Dysplasia |
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Asplenia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
Hyperekplexia 3 |
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Hiatus hernia, Exaggerated startle response |
OMIM:614618 |
Stormorken Syndrome |
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Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
Hyperekplexia 1 |
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Umbilical hernia, Inguinal hernia, Exaggerated startle response |
OMIM:149400 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Leukodystrophy, Hypomyelinating, 13 |
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Failure to thrive, Joint contracture, Exaggerated startle response |
OMIM:616881 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Truncal titubation, Tremor, Agitation, Exaggerated startle response |
OMIM:618056 |
Sandhoff Disease, Infantile Form |
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Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
Glycine Encephalopathy With Normal Serum Glycine |
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Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Exaggerated start... |
OMIM:617301 |
Mirage Syndrome |
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Lymphopenia, Leukopenia, Decreased body weight, Thrombocytopenia, Anemia, Hypoplastic spleen |
OMIM:617053 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Flexion contracture, Exaggerated startle response |
OMIM:609541 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation |
ORPHA:424 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Multiple joint contractures, Exaggerated startle response |
ORPHA:320406 |
Stiff-Person Syndrome |
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Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Ciliary Dyskinesia, Primary, 53 |
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Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
Familial Gestational Hyperthyroidism |
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Weight loss, Hand tremor, Hyperactivity, Agitation |
ORPHA:99819 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Failure to thrive, Joint contracture, Exaggerated startle response |
OMIM:617864 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Agitation, Hyperactivity, Thrombocytopenia, Exaggerated startle response, Dystonia, Impulsivity |
OMIM:620423 |
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 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Pearson Syndrome |
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Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ... |
ORPHA:699 |
Developmental And Epileptic Encephalopathy 49 |
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Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
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Contractures of the large joints, Failure to thrive, Exaggerated startle response, Dystonia, Impa... |
ORPHA:521426 |
Sandhoff Disease |
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Hepatomegaly, Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
Microphthalmia, Syndromic 9 |
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Multilobulated spleen, Hypoplastic spleen, Congenital diaphragmatic hernia, Inguinal hernia |
OMIM:601186 |
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 Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Contractures of the large joints, Dysphagia, Failure to thrive, Exaggerated startle response |
OMIM:617527 |
Gm1 Gangliosidosis Type 1 |
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Abnormal odontoid tissue morphology, Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
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 |
Tay-Sachs Disease |
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Laryngeal dystonia, Tremor, Exaggerated startle response, Dystonia, Dysphagia |
ORPHA:845 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Dystonia, Choreoathetosis |
OMIM:612716 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Exaggerated startle response |
ORPHA:438216 |
Asparagine Synthetase Deficiency |
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Failure to thrive, Tremor, Exaggerated startle response |
OMIM:615574 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Flexion contracture, Exaggerated startle response |
OMIM:253800 |
Combined Oxidative Phosphorylation Deficiency 58 |
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Exaggerated startle response |
OMIM:620451 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Dysphagia, Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Uterine prolapse, Stereotypical hand wringing, Exaggerated startle response, Anemia, Dystonia, Dy... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response |
OMIM:619522 |