| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Obesity |
|
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity |
OMIM:601665 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity |
OMIM:309548 |
| Mental Retardation, Autosomal Dominant 52 |
|
Anxiety, Hyperactivity |
OMIM:617796 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Irritability, Hyperactivity |
OMIM:616657 |
| Mental Retardation, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity |
OMIM:608747 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Atrial septal defect, Hyperactivity, Abnormal heart morphology |
DECIPHER:39 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Aggressive behavior, Dense calvaria, Hepatomegaly, Joint stiffness... |
OMIM:252920 |
| Glycine Encephalopathy |
|
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity |
OMIM:605899 |
| Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Impulsivity, Aggressive behavior, Hyperactivity |
OMIM:604317 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... |
ORPHA:248111 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Phenylketonuria |
|
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... |
OMIM:261600 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Mental Retardation, Autosomal Dominant 43 |
|
Impulsivity, Anxiety, Hyperactivity |
OMIM:616977 |
| Fraxe Intellectual Disability |
|
Impulsivity, Aggressive behavior, Hyperactivity |
ORPHA:100973 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Ataxia, Hyperactivity |
OMIM:239500 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... |
ORPHA:3077 |
| Chromosome 3Q29 Deletion Syndrome |
|
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity |
OMIM:609425 |
| Ck Syndrome |
|
Joint hypermobility, Aggressive behavior, Abnormal cortical bone morphology, Irritability, Hypera... |
OMIM:300831 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity |
OMIM:248510 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Ataxia, Hyperactivity |
OMIM:300983 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:618362 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... |
ORPHA:98818 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Dystonia, Ataxia, Hyperactivity |
OMIM:615924 |
| Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
| Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
| Lennox-Gastaut Syndrome |
|
Personality disorder, Falls, Aggressive behavior, Hyperactivity |
ORPHA:2382 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Osteopenia, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity |
OMIM:618090 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Abnormal cardiac septum morphology, Abnormal heart morphology, Sagittal craniosyno... |
OMIM:618027 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Arthrogryposis multiplex congenita, Atrial septal defect, Abnormal heart morphology, Joint contra... |
ORPHA:352490 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Beck-Fahrner Syndrome |
|
Joint hypermobility, Ventricular septal defect, Depression, Cardiomegaly, Anxiety, Attention defi... |
OMIM:618798 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anxiety, Aggressive behavior, Hyperactivity |
OMIM:300558 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| Mental Retardation, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity |
OMIM:615541 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Aggressive behavior, Flexion contracture, Hip contracture, Knee flexion contracture, Hyperactivit... |
OMIM:616809 |
| Neuraminidase Deficiency |
|
Epiphyseal stippling, Hepatomegaly, Cardiomegaly, Dysmetria, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Contractures of the large joints, Cardiomegaly |
OMIM:300886 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Gait ataxia, Truncal ataxia, Depression, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Ca... |
OMIM:619259 |
| Ck Syndrome |
|
Joint hypermobility, Irritability, Aggressive behavior, Hyperactivity |
ORPHA:251383 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Carnitine Deficiency, Systemic Primary |
|
Lethargy, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction, Thickened cortex of lo... |
OMIM:253250 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity |
OMIM:271980 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Mucopolysaccharidosis, Type Iiia |
|
Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, Joint stiffness, Splenomegaly, Hyper... |
OMIM:252900 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Lethargy, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:619064 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Impulsivity, Depression |
ORPHA:88616 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity |
OMIM:301013 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Osteoporosis, Lethargy, Apathy, Stiff interphalangeal joints, Hepatomegaly, Joint stiffness, Card... |
ORPHA:465508 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait |
ORPHA:411515 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... |
ORPHA:485350 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Joint laxity, Broad-based gait, Aggressive behavior |
ORPHA:457260 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Aggressive behavior, Hyperactivity |
OMIM:618342 |
| Cantu Syndrome |
|
Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventricle, Cardiomegaly, Bicus... |
OMIM:239850 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:612716 |
| Hemochromatosis, Type 1 |
|
Osteoporosis, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity |
OMIM:274270 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Inability to walk, Steppage gait, Abnormal atrioventricular valve morphology, Aortic valve stenos... |
ORPHA:324410 |
| Gand Syndrome |
|
Inappropriate laughter, Hyperactivity |
OMIM:615074 |
| Mental Retardation, Autosomal Recessive 61 |
|
Aggressive behavior, Hyperactivity |
OMIM:617773 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity |
OMIM:618718 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... |
ORPHA:228360 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis |
ORPHA:382 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity |
ORPHA:101039 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Ataxia, Hepatomegaly, Distal arthrogryposis, Cardiomegaly |
ORPHA:42 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Flexion contracture, Fractured radius, Multiple prenatal fractures, Ca... |
OMIM:616897 |
| Symptomatic Form Of Fragile X Syndrome In Female Carrier |
|
Joint laxity, Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hy... |
ORPHA:449291 |
| Hsd10 Disease, Infantile Type |
|
Dystonia, Loss of ability to walk, Paroxysmal bursts of laughter, Cardiomegaly, Hypertrophic card... |
ORPHA:391428 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Abnormal cardiac septum morphology, Attention deficit hyperactivity disorder, Hyper... |
OMIM:614294 |
| Mental Retardation, Autosomal Recessive 38 |
|
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity |
OMIM:615516 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Joint hypermobility, Aggressive behavior, Ventricular septal defect, Self-biting, Hyperactivity, ... |
ORPHA:3306 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait, Dysplastic pulmonary valve |
OMIM:300958 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity |
ORPHA:500180 |
| Clark-Baraitser Syndrome |
|
Aggressive behavior, Hyperactivity |
OMIM:617752 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Joint laxity, Hyperactivity |
OMIM:300624 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor |
OMIM:617865 |
| Timothy Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect |
OMIM:601005 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Joint hypermobility, Impulsivity, Hyperactivity |
OMIM:300143 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:255120 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... |
OMIM:115197 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis |
ORPHA:615 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Mucopolysaccharidosis, Type Iiic |
|
Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, Joint stiffness, Splenomegaly, Hyper... |
OMIM:252930 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Ventricular septal defect |
OMIM:618504 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
| Rasmussen Subacute Encephalitis |
|
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... |
ORPHA:1929 |
| Refsum Disease, Classic |
|
Ataxia, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| 16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morpholog... |
ORPHA:485405 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... |
ORPHA:555874 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior, Subvalvular aortic stenosis |
OMIM:600430 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Aggressive behavior, Joint laxity, Ventricular septal defect, Flexion contr... |
OMIM:309520 |
| Gomez-Lopez-Hernandez Syndrome |
|
Bipolar affective disorder, Craniosynostosis, Depression, Self-injurious behavior, Ataxia, Hypera... |
OMIM:601853 |
| Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... |
OMIM:300257 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect |
OMIM:618652 |
| Developmental And Epileptic Encephalopathy 95 |
|
Inability to walk, Inappropriate laughter, Arthrogryposis multiplex congenita, Inappropriate cryi... |
OMIM:618143 |
| Optic Atrophy 11 |
|
Dysmetria, Ataxia, Hyperactivity |
OMIM:617302 |
| Mucopolysaccharidosis Type 3 |
|
Disinhibition, Aggressive behavior, Abnormal mitral valve morphology, Craniofacial hyperostosis, ... |
ORPHA:581 |
| 19P13.3 Microduplication Syndrome |
|
Osteoporosis, Ventricular septal defect, Self-injurious behavior, Irritability, Hyperactivity |
ORPHA:447980 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Limited hip movement, Limited knee flexion/extension, Right ventricular hypert... |
ORPHA:268 |
| Smith-Magenis Syndrome |
|
Head-banging, Self-mutilation, Hyperactivity, Abnormal heart morphology |
OMIM:182290 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Joint laxity, Aggressive behavior, Hyperactivity, Mood swings |
OMIM:300354 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Flexion contracture, Ataxia, Emotional lability, Unsteady gait, Impul... |
ORPHA:35069 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta, Stiff neck |
OMIM:617022 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Aggressive behavior, Hyperactivity |
OMIM:615286 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Aggressive behavior, Abnormal heart morphology, Ventricular septal defect, Camptodactyly, Ataxia,... |
ORPHA:369891 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Lethargy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Supernumerary ve... |
OMIM:215140 |
| X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Dystonia, Joint hyperflexibility, Ataxia, Hyperactivity, Athetosis |
ORPHA:52503 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Aggressive behavior, Hyperactivity |
OMIM:615824 |
| Mental Retardation, Autosomal Dominant 7 |
|
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor |
OMIM:614104 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Ataxia, Hepatomegaly, Limb dystonia, Hyperactivity |
ORPHA:363400 |
| Gaucher Disease, Perinatal Lethal |
|
Arthrogryposis multiplex congenita, Akinesia, Apathy, Hepatomegaly, Cardiomegaly, Splenomegaly, H... |
OMIM:608013 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect, Hyperactivity |
OMIM:619239 |
| Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity |
OMIM:275000 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteoporosis, Joint hypermobility, Craniosynostosis, Atrial septal defect, Radioulnar synostosis,... |
OMIM:245600 |
| X-Linked Adrenoleukodystrophy |
|
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Hyperactivit... |
ORPHA:43 |
| Adenylosuccinase Deficiency |
|
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Hyp... |
OMIM:103050 |
| Myoclonic-Astatic Epilepsy |
|
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... |
ORPHA:1942 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Osteoporosis, Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:1517 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy, Enlarged kidney, Hepatomegaly, Cardiomegaly, Knee flexion contracture, Dilated cardiomy... |
OMIM:608836 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Inability to walk, Micronodular cirrhosis, Dystonia, Elevated hepatic transaminase, Microvesicula... |
ORPHA:404454 |
| Mucopolysaccharidosis, Type Iiid |
|
Asymmetric septal hypertrophy, Flexion contracture, Hepatomegaly, Joint stiffness, Splenomegaly, ... |
OMIM:252940 |
| Chromosome 10Q26 Deletion Syndrome |
|
Limited elbow extension, Craniosynostosis, Atrial septal defect, Aggressive behavior, Hyperactivi... |
OMIM:609625 |
| 2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity |
ORPHA:228402 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... |
ORPHA:168491 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:369939 |
| Complete Atrioventricular Septal Defect |
|
Lethargy, Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatome... |
ORPHA:1329 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis, Attention deficit hyperactivity disorder, Hyperactivity |
ORPHA:73272 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal bone ossification, Cardiomegaly, Joint hypermobility |
ORPHA:2463 |
| 19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Craniosynostosis, Atrial septal defect, Ventricular septal de... |
ORPHA:254346 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Inappropriate laughter, Limitation of movement at ankles, Ataxia, Hyperactivity, Gait imbalance, ... |
ORPHA:98794 |
| Mend Syndrome |
|
Aortic valve stenosis, Hyperactivity |
OMIM:300960 |
| Aorta Coarctation |
|
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... |
ORPHA:1457 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Aggressive behavior, Hyperactivity |
ORPHA:391307 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Dystonia, Irritability, Cardiomegaly |
OMIM:618278 |
| Cri-Du-Chat Syndrome |
|
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... |
OMIM:123450 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger, Ventricular septal ... |
OMIM:602782 |
| Craniofaciofrontodigital Syndrome |
|
Joint hypermobility, Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
| Pediatric-Onset Graves Disease |
|
Craniosynostosis, Hepatomegaly, Irritability, Splenomegaly, Hyperactivity, Mood swings |
ORPHA:525731 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Anxiety, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:618430 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... |
OMIM:610217 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... |
OMIM:306955 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Joint laxity, Abnormal heart morphology |
OMIM:615873 |
| 13Q12.3 Microdeletion Syndrome |
|
Self-mutilation, Camptodactyly, Hyperactivity |
ORPHA:412035 |
| Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Aggressive behavior, Congenital finger flexion contractures, Gait disturban... |
ORPHA:363528 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Self-biting, Hyperactivity |
OMIM:618314 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| Intellectual Disability, Birk-Barel Type |
|
Contractures involving the joints of the feet, Limited elbow flexion/extension, Congenital finger... |
ORPHA:166108 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Self-mutilation, Inappropriate laughter, Joint laxity, Low frustration tolerance, Hyperactivity |
ORPHA:363686 |
| Glass Syndrome |
|
Aggressive behavior, Camptodactyly, Happy demeanor, Hyperactivity, Broad-based gait |
OMIM:612313 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Joint laxity, Ankylosis, Aggressive behavior, Ventricular septal defect, At... |
OMIM:300967 |
| Mucopolysaccharidosis Type 2 |
|
Aggressive behavior, Hyperactivity, Abnormal tricuspid valve morphology, Hip osteoarthritis, Abno... |
ORPHA:580 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Ataxia, Hyperactivity |
ORPHA:530983 |
| Choreoacanthocytosis |
|
Hair-pulling, Emotional lability, Head-banging, Progressive inability to walk, Falls, Hyperactivi... |
ORPHA:2388 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Ataxia |
OMIM:268800 |
| Abetalipoproteinemia |
|
Gait ataxia, Steppage gait, Ataxia, Hepatomegaly, Cardiomegaly, Dysmetria, Osteopenia, Broad-base... |
ORPHA:14 |
| Fucosidosis |
|
Hepatomegaly, Flexion contracture, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Pathologic fracture, Cardiomegaly, Splenomegaly, Osteopenia, Hypertrophic cardiomyo... |
OMIM:252500 |
| Bohring-Opitz Syndrome |
|
Bilateral wrist flexion contracture, Inability to walk, Congenital contracture, Abnormal cardiac ... |
ORPHA:97297 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Self-mutilation, Osteomyelitis, Hyperactivity, Emotional lability |
OMIM:256800 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy |
OMIM:261740 |
| Angelman Syndrome |
|
Inability to walk, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, Ataxia, ... |
ORPHA:72 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Ataxia, Hyperactivity |
OMIM:610042 |
| Koolen-De Vries Syndrome |
|
Joint hypermobility, Atrial septal defect, Ventricular septal defect, Vertebral fusion, Pulmonic ... |
OMIM:610443 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Osteoporosis, Inability to walk, Difficulty walking, Flexion contracture, Hepatomegaly, Cardiomeg... |
ORPHA:365 |
| 7Q11.23 Microduplication Syndrome |
|
Joint hypermobility, Craniosynostosis, Atrial septal defect, Aggressive behavior, Ventricular sep... |
ORPHA:96121 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Aggressive behavior, Camptodactyly, Pulmonic stenosis, Left ventricular hypertrophy, Hyperactivity |
OMIM:619148 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly, Pericardial effusion, Joint contr... |
OMIM:235510 |
| 47,Xyy Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity |
ORPHA:8 |
| Angelman Syndrome |
|
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity |
OMIM:105830 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Camptodactyly of toe |
ORPHA:158687 |
| Citrullinemia Type Ii |
|
Lethargy, Aggressive behavior, Hepatomegaly, Irritability, Hyperactivity |
ORPHA:247585 |
| Brain-Lung-Thyroid Syndrome |
|
Dystonia, Atrial septal defect, Ventricular septal defect, Ataxia, Falls, Hyperactivity, Patent f... |
ORPHA:209905 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Aggressive behavior, Joint hyperflexibility, Hyperactivity, Broad-based ... |
ORPHA:85293 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Inappropriate crying, Camptodactyly, Self-injurious behavior, Hyperactivity |
ORPHA:261323 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
| White-Sutton Syndrome |
|
Joint laxity, Aggressive behavior, Abnormal heart morphology, Self-injurious behavior, Hyperactivity |
ORPHA:468678 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hypoplastic ... |
ORPHA:2209 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Hamstr... |
ORPHA:139396 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Aicardi-Goutières Syndrome |
|
Dystonia, Difficulty walking, Arthritis, Multiple joint contractures, Irritability, Cardiomegaly,... |
ORPHA:51 |
| Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Atrial septal defect, Joint laxity, Myelofibrosis, Ventricular septal defect, Pulmonic stenosis, ... |
OMIM:607721 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy |
ORPHA:228308 |
| Williams Syndrome |
|
Joint laxity, Abnormal endocardium morphology, Increased bone mineral density, Joint stiffness, C... |
ORPHA:904 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
| Argininemia |
|
Hepatomegaly, Spastic gait, Irritability, Hyperactivity |
OMIM:207800 |
| Bone Marrow Failure Syndrome 3 |
|
Reduced bone mineral density, Joint hypermobility, Hyperactivity |
OMIM:617052 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Atrial septal defect, Joint laxity, Aggressive behavior, Abnormal heart morphology, Ventricular s... |
ORPHA:353281 |
| Truncus Arteriosus |
|
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... |
ORPHA:3384 |
| Coffin-Siris Syndrome |
|
Atrial septal defect, Joint laxity, Aggressive behavior, Ventricular septal defect, Abnormal hear... |
ORPHA:1465 |
| Singleton-Merten Syndrome 1 |
|
Osteoporosis, Mitral valve calcification, Aortic valve stenosis, Waddling gait, Cardiomegaly, Aor... |
OMIM:182250 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Lethargy, Cardiomegaly, Ventricular septal defect |
ORPHA:137675 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Joint laxity, Ventricular septal defect |
ORPHA:96191 |
| Tuberous Sclerosis Complex |
|
Cardiac rhabdomyoma, Aggressive behavior, Depression, Self-injurious behavior, Impulsivity, Anxie... |
ORPHA:805 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity |
OMIM:234200 |
| Wiedemann-Steiner Syndrome |
|
Aggressive behavior, Hyperextensibility at elbow, Low frustration tolerance, Anxiety, Hyperactivity |
ORPHA:319182 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Gait disturbance, Aortic valve stenosis, Multiple joint contractures, ... |
ORPHA:464306 |
| Distal Trisomy 17Q |
|
Hyperactivity, Joint laxity, Abnormal heart morphology |
ORPHA:3379 |
| Cerebellar Ataxia, Nonprogressive, With Mental Retardation |
|
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity |
OMIM:614756 |
| Mend Syndrome |
|
Hyperactivity, Aortic valve stenosis, Aggressive behavior, Abnormal heart morphology |
ORPHA:401973 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... |
ORPHA:99125 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hypophosphatemic rickets, Abnormal calcification of the carpal bones, Pe... |
ORPHA:51608 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture of finger, Flexion contracture of toe, Flexion contr... |
OMIM:256040 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Atrial septal defect, Joint laxity, Aggressive behavior, Abnormal heart morphology, Ventricular s... |
ORPHA:353277 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Atrial septal defect, Joint laxity, Aggressive behavior, Abnormal heart morphology, Ventricular s... |
ORPHA:353284 |
| Yunis-Varon Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Decreased skull ossification, Abse... |
ORPHA:3472 |
| Early Infantile Epileptic Encephalopathy |
|
Dystonia, Episodic ataxia, Ventricular septal defect, Self-injurious behavior, Hyperactivity |
ORPHA:1934 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Multiple joint contractures, Irritability, Hyperactivity |
ORPHA:447997 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Septic arthritis, Painless... |
ORPHA:642 |
| Tropical Endomyocardial Fibrosis |
|
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... |
ORPHA:75565 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Oculoectodermal Syndrome |
|
Hyperactivity, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:600268 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy |
OMIM:130650 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyop... |
ORPHA:116 |
| Tetrasomy 9P |
|
Pericarditis, Abnormal mitral valve morphology, Dextrocardia, Inappropriate behavior, Hyperactivi... |
ORPHA:3310 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
