| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions |
OMIM:618830 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness |
OMIM:618221 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
| Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Impaired social interactions, Aggressive behavior |
OMIM:618103 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:209850 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... |
OMIM:153670 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... |
ORPHA:101039 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions |
ORPHA:397933 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social inter... |
OMIM:617820 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Hsd10 Disease |
|
Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors |
ORPHA:444002 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Takenouchi-Kosaki Syndrome |
|
Ataxia, Increased mean platelet volume, Abnormal cardiac septum morphology, Pulmonic stenosis, Th... |
OMIM:616737 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean plate... |
ORPHA:84064 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Pulmonic s... |
OMIM:222470 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Lethargy, Cardiomegaly |
OMIM:600649 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly |
ORPHA:858 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Ataxia, Agitation, Disinhibition |
ORPHA:1020 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:619064 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Impaired social interactions, Attention deficit hyper... |
OMIM:610042 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Total anomalous pulmonary venous return, Increased mean platelet volume, Abnorm... |
ORPHA:487796 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr... |
OMIM:256550 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Impaired social interactions, Aggressive behavior |
OMIM:616083 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Impaired social interactions |
ORPHA:168782 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Dysphagia, Impaired social interactions, Aggressive behavior |
OMIM:619738 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Di... |
OMIM:300280 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:269920 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Shyness, Aggressive behavior, Self-injurious behavior, Impaired social interaction... |
ORPHA:449291 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Lethargy, Hypertrophic ca... |
OMIM:212140 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomyopathy, Gait disturbance, ... |
OMIM:619259 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly |
OMIM:614702 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Choreoathetosis, Dystonia, Loss of ambulation, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ataxia, Lethargy, Cardiomegaly |
ORPHA:42 |
| Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Ataxia, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:255120 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Tremor, Limb ataxia, Cardiomyopathy, Truncal ataxia, Intention tremor |
OMIM:105210 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Ataxia, Cardiomegaly |
OMIM:266500 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Cardiomegaly |
OMIM:201475 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Tip-toe gait, Progressive gait ataxia, Abnormal social behavior, Gait ataxia |
ORPHA:309256 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Opistho... |
OMIM:608013 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| 48,Xxxy Syndrome |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:96263 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity... |
ORPHA:93932 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| 1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Shyness, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Exaggerated startle response, Patent foramen ovale, Tremor |
OMIM:620327 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Dystonia, Atrial septal defect, Left ventricular ... |
ORPHA:79330 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
| Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Compulsive behaviors, Attention deficit hyperactivity disorder, Impaired social int... |
ORPHA:177907 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Lethargy |
ORPHA:465508 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia |
ORPHA:438216 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive gait ataxia, Abnormal social behavior |
ORPHA:309263 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal... |
ORPHA:314647 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Hepatosplenomegaly, Gait dist... |
ORPHA:845 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus |
OMIM:617022 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Tip-toe gait, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Metachromatic Leukodystrophy, Adult Form |
|
Progressive gait ataxia, Abnormal social behavior, Difficulty walking |
ORPHA:309271 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dystonia, Spastic gait |
OMIM:230000 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Broad-based gait, Ataxia, Acanthocytosis, Cardiomegaly, Dysmetria,... |
ORPHA:14 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Cardiomegaly |
OMIM:620306 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lethargy, Enlarged kidney |
OMIM:608836 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Ataxia, Cardiomegaly, Inability to walk, Gait disturbance |
OMIM:618143 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b... |
ORPHA:805 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Mend Syndrome |
|
Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Difficulty walking, Cardiomegaly |
OMIM:232300 |
| Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
| Niemann-Pick Disease Type C |
|
Ataxia, Aggressive behavior, Progressive gait ataxia, Gait disturbance, Disinhibition, Compulsive... |
ORPHA:646 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Ataxia, Cardiomegaly, Splenomegaly, Loss of ambulation, Abnormal aortic valve morph... |
ORPHA:581 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal social behavior |
ORPHA:1675 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Tremor, Hepatosplenomegaly, Chronic lymphatic... |
ORPHA:51 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiomegaly, T... |
OMIM:300967 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363958 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Tip-toe gait, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Ogden Syndrome |
|
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... |
OMIM:300855 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Lethargy, Cardiomegaly |
ORPHA:137675 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Inability to walk, Difficulty walking, Left ventricular hypertrophy, ... |
ORPHA:365 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Trichothiodystrophy |
|
Reduced social reciprocity, Gait ataxia |
ORPHA:33364 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Broad-based gait, Bicuspid aortic valve, Ventricular septal defect,... |
ORPHA:438213 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Bohring-Opitz Syndrome |
|
Inability to walk, Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
| Williams Syndrome |
|
Death in early adulthood, Ataxia, Dysmetria, Gait disturbance, Gait imbalance, Attention deficit ... |
ORPHA:904 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Thrombocytopenia |
OMIM:256040 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia, Visceromegal... |
ORPHA:116 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Singleton-Merten Syndrome 1 |
|
Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular ... |
OMIM:182250 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Exaggerated startle response, Ventricular septal defect |
OMIM:619522 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
| Developmental And Epileptic Encephalopathy 27 |
|
Chorea |
OMIM:616139 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea |
OMIM:613970 |
| Infantile Spasms Syndrome |
|
|
ORPHA:3451 |
