| Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
| Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
| 7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
| Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618830 |
| Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
| Alzheimer Disease 10 |
|
Dementia, Memory impairment |
OMIM:609636 |
| Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness |
OMIM:618221 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608631 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Memory impairment, Depression, Hand tremor, Postural tremor, Cerebellar calcifications, Cognitive... |
OMIM:615483 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Motor stereotypy, Reduced social reciprocity |
OMIM:606053 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... |
OMIM:608636 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:209850 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Aggressive behavior, Reduced social reciprocity |
OMIM:618103 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Generalized dystonia, Limb dystonia, Cerebellar calcifications, Thalamic ca... |
OMIM:618824 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Childhood Disintegrative Disorder |
|
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... |
ORPHA:168782 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology, Cognitive impairment, Oromandibular dystonia |
ORPHA:397725 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Mental deterioration, Memory impairment, Cerebellar dentate nucleus calcification, Dystonia, Thal... |
OMIM:618317 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract |
ORPHA:79281 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Morm Syndrome |
|
Cataract, Aggressive behavior, Retinal atrophy, Hyperactivity, Micropenis |
ORPHA:75858 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Glycine Encephalopathy 1 |
|
Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Neuroferritinopathy |
|
Blepharospasm, Arm dystonia, Resting tremor, Frontal lobe dementia, Leg dystonia, Emotional labil... |
ORPHA:157846 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Dystonia, Decreased thalamic volume |
OMIM:618646 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... |
ORPHA:3077 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Motor stereotypy, Reduced social reciprocity, Inability to walk |
OMIM:617820 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... |
OMIM:616860 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Depression, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia... |
OMIM:301310 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Polyphagia, Reduced social reciprocity |
ORPHA:329249 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Dementia, T2 hypointense thalamus, Memory impairment |
OMIM:618193 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Hypochromia, Poikilocy... |
OMIM:258900 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Cerebellar atrophy, Focal T2 hyperintense thalamic lesion, Emotional lability, Dyspha... |
ORPHA:79264 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Spinocerebellar Ataxia With Epilepsy |
|
Depression, Focal T2 hyperintense thalamic lesion, Tremor, Progressive neurologic deterioration, ... |
ORPHA:254881 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing |
ORPHA:397933 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Attention deficit hyperactivity disorder, Abnormal thalamus morphol... |
ORPHA:467166 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Head tremor, Torticollis, Dystonia, Intention tremor |
OMIM:613724 |
| Cach Syndrome |
|
Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis atrophy, Irritability, T2 hyp... |
ORPHA:135 |
| Kleine-Levin Syndrome |
|
Transient global amnesia, Depression, Polydipsia, Confusion, Abnormal eating behavior, Sweet crav... |
ORPHA:33543 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... |
ORPHA:101039 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, T2 hypointense thalamus, Cognitive impairment, Motor deterioration, Dementia |
ORPHA:1947 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hypoplasia of the pons, Agenesis of corpus callosum |
OMIM:617542 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social... |
ORPHA:1020 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect |
DECIPHER:39 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Aplasia/Hypoplasia of the cerebellar vermis, Reduced social reciprocity, Cerebellar hypoplasia, A... |
ORPHA:137831 |
| Trimethylaminuria |
|
Anemia, Depression, Splenomegaly, Neutropenia |
OMIM:602079 |
| Galactosemia Ii |
|
Prolonged neonatal jaundice, Galactosuria, Cataract |
OMIM:230200 |
| Galactosemia Iv |
|
Hepatomegaly, Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Hsd10 Disease |
|
Short attention span, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal social behavior |
ORPHA:391417 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Cerebellar hypoplasia, Decreased thalamic volume |
OMIM:619072 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... |
ORPHA:231226 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608049 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Anisocytosis |
OMIM:604273 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Emotional labili... |
OMIM:614963 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Abnormal thalamus morphology, Short a... |
ORPHA:300570 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention defi... |
OMIM:620141 |
| New-Onset Refractory Status Epilepticus |
|
Confusion, Cognitive impairment, Cerebellar edema, Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Dysphagia |
OMIM:613668 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi... |
OMIM:618278 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Short attention span, Abnormal so... |
ORPHA:444002 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... |
OMIM:610042 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... |
OMIM:615285 |
| Phenylketonuria |
|
Cataract, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid in... |
OMIM:261600 |
| Progressive Supranuclear Palsy |
|
Memory impairment, Depression, Falls, Emotional lability, Irritability, Cognitive impairment, Dem... |
ORPHA:683 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysphagia |
OMIM:619738 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
| Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria, Keratoconus, Cataract, Pigmentary retinopathy, Eye poking, Optic disc drusen, ... |
OMIM:204000 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Young-Onset Parkinson Disease |
|
Depression, Frontal lobe dementia, Gait imbalance, Short attention span, Restless legs, Reduced s... |
ORPHA:2828 |
| Aceruloplasminemia |
|
Blepharospasm, Memory impairment, Tremor, Abnormal dentate nucleus morphology, Craniofacial dysto... |
ORPHA:48818 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Depression, Memory impairment, Abnormal cerebellar cortex morphology, Cognitive impairment, Abnor... |
ORPHA:70595 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Depression, Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Aggressive behavior,... |
OMIM:615157 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Hypoplasia of the pons, Dilated fourth ventricle, Abnormal cerebellum ... |
ORPHA:370959 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivit... |
OMIM:252920 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Thrombocytopenia, Anemia |
ORPHA:848 |
| Foxg1 Syndrome |
|
Bruxism, Reduced social reciprocity, Stereotypical hand wringing, Agenesis of corpus callosum, Mo... |
ORPHA:561854 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... |
OMIM:618963 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... |
ORPHA:1067 |
| Neuraminidase Deficiency |
|
Cataract, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increased urinary O-l... |
OMIM:256550 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hep... |
ORPHA:858 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Ventricular septal defect, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic rena... |
OMIM:613730 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... |
ORPHA:449291 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Reduced social reciprocity |
OMIM:611092 |
| Tay-Sachs Disease |
|
Memory impairment, Depression, Cerebellar atrophy, Laryngeal dystonia, Short attention span, Trem... |
ORPHA:845 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... |
OMIM:619927 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Inability to walk, Short attention span, Reduced social reciprocity, Attention ... |
OMIM:617854 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis, Limb dystonia, Small for gestational age |
ORPHA:621 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Self-injurious behavior, Cataract, Abnormal heart morphology,... |
ORPHA:488618 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... |
ORPHA:3156 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Optic atrophy, Hematuria, Posterior embryotoxon, Retinal detachment, Corneal opacity, I... |
ORPHA:1473 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Anorexia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Chore... |
ORPHA:79312 |
| Mulibrey Nanism |
|
Pigmentary retinopathy, Astigmatism, Cardiomegaly, Pericardial constriction, Hepatomegaly, Iris c... |
OMIM:253250 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias |
ORPHA:1381 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia |
ORPHA:67048 |
| Immunodeficiency 46 |
|
Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology |
ORPHA:557003 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... |
ORPHA:100924 |
| Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior |
ORPHA:530983 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cognitive impairment, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior |
ORPHA:64280 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, P... |
OMIM:618052 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology |
ORPHA:85447 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Coats Disease |
|
Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
| Refsum Disease, Classic |
|
Cataract, Cardiomyopathy, Retinal degeneration, Cardiomegaly, Abnormal renal physiology |
OMIM:266500 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome |
OMIM:269920 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Abnormal thalamus morphology, Focal T2 hyperintense thalamic lesion, Tremor,... |
ORPHA:79139 |
| Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Eye poking, M... |
OMIM:613835 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal thalamus morphology |
ORPHA:404440 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia |
ORPHA:318 |
| Acute Disseminated Encephalomyelitis |
|
Mental deterioration, Confusion, Abnormal cerebellum morphology, Irritability, Aggressive behavio... |
ORPHA:83597 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... |
OMIM:619827 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Congenital Rubella Syndrome |
|
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Abnormality of... |
ORPHA:290 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale |
OMIM:617182 |
| Panhypophysitis |
|
Secondary growth hormone deficiency, Polydipsia, Increased circulating prolactin concentration, P... |
ORPHA:95513 |
| Hyperlysinemia, Type I |
|
Hyperlysinuria, Optic nerve hypoplasia, Ectopia lentis, Cystinuria, Hyperactivity, Anemia, Ornith... |
OMIM:238700 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration |
OMIM:614292 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor |
OMIM:250800 |
| Long-Olsen-Distelmaier Syndrome |
|
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular s... |
OMIM:620609 |
| Stiff-Person Syndrome |
|
Anemia, Opisthotonus, Depression, Exaggerated startle response |
OMIM:184850 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Cataract, Oligosacchariduria |
ORPHA:3137 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Cognitive impairment, Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
| Amed Syndrome, Digenic |
|
Failure to thrive, Leukopenia, Attention deficit hyperactivity disorder, Acute myeloid leukemia, ... |
OMIM:619151 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice |
ORPHA:615 |
| 3P25.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Abnormal thalamus morphology |
ORPHA:435638 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Cardiomegaly, Dysphagia, Abnorm... |
ORPHA:391428 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Tay-Sachs Disease |
|
Dementia, Psychomotor deterioration, Exaggerated startle response |
OMIM:272800 |
| Leigh Syndrome |
|
Cerebellar atrophy, Olivopontocerebellar atrophy, Agenesis of corpus callosum, Abnormal dentate n... |
ORPHA:506 |
| Amyloidosis, Finnish Type |
|
Cataract, Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Neph... |
OMIM:105120 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... |
ORPHA:91495 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Irritability |
ORPHA:30925 |
| Cataract 47 |
|
Cataract, Microcornea, Glycosuria |
OMIM:612018 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Reduced social reciprocity |
OMIM:616083 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... |
OMIM:603903 |
| Neurooculocardiogenitourinary Syndrome |
|
Peters anomaly, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect |
OMIM:618652 |
| Retinitis Pigmentosa 84 |
|
Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy |
OMIM:618220 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Rhombencephalosynapsis |
|
Abnormal dentate nucleus morphology, Fusion of the left and right thalami, Agenesis of cerebellar... |
ORPHA:59315 |
| Adenohypophysitis |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95512 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology, Cognitive impairment |
ORPHA:2959 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
| Wolfram Syndrome 1 |
|
Cataract, Optic atrophy, Pigmentary retinopathy, Hydroureter, Cardiomyopathy, Sideroblastic anemi... |
OMIM:222300 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Fatigable weakness, Hepatic steato... |
ORPHA:42 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Decreased carnitine level in ... |
OMIM:212140 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
| Microphthalmia/Coloboma 12 |
|
Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral reflux, Remnants of the ... |
OMIM:120200 |
| Norrie Disease |
|
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive ... |
OMIM:310600 |
| Mucopolysaccharidosis Type 3 |
|
Urinary glycosaminoglycan excretion, Abnormal mitral valve morphology, Hepatomegaly, Dysphagia, F... |
ORPHA:581 |
| Central Diabetes Insipidus |
|
Depression, Polydipsia, Anorexia |
ORPHA:178029 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss, Anorexia,... |
ORPHA:514 |
| 47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Reduced social reciprocity, Attention ... |
ORPHA:8 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy |
OMIM:600649 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... |
OMIM:221900 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age |
OMIM:616943 |
| Bardet-Biedl Syndrome 9 |
|
Cataract, Polydipsia, Renal insufficiency, Astigmatism, Retinal degeneration, Polyphagia, Bone sp... |
OMIM:615986 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... |
OMIM:615234 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy... |
OMIM:618886 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Agitation |
OMIM:619046 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
| Metachromatic Leukodystrophy, Adult Form |
|
Memory impairment, Depression, Progressive psychomotor deterioration, Difficulty walking, Short a... |
ORPHA:309271 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Abnormal social behavior |
ORPHA:309256 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Wagro Syndrome |
|
Emotional lability, Low frustration tolerance, Reduced social reciprocity, Polyphagia, Aggressive... |
OMIM:612469 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive psychomotor deterioration, Short attention span, Emotional lability, Progressive gait... |
ORPHA:309263 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Increased circulating gonadotropin level, Attention deficit hyperactivity disorder, Reduced socia... |
ORPHA:163976 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... |
ORPHA:544254 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Cerebellar vermis hypoplasia, Fusion of the left and right thalami, Dilated fourth ventricle, Cer... |
OMIM:619306 |
| Meningioma |
|
Transient global amnesia, Secondary growth hormone deficiency, Memory impairment, Hypothalamic hy... |
ORPHA:2495 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... |
OMIM:608643 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin, Failure to thrive |
ORPHA:98791 |
| Nephronophthisis 9 |
|
Anemia, Polydipsia |
OMIM:613824 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
| Brain-Lung-Thyroid Syndrome |
|
Abnormal eating behavior, Short attention span, Agenesis of corpus callosum, Abnormal drinking be... |
ORPHA:209905 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... |
ORPHA:231214 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia |
ORPHA:171844 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Astigmatism, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic ... |
OMIM:617713 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Bruxism, Inappropriate laughter, Reduced social reciprocity, Stereotypical ... |
ORPHA:3095 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma |
OMIM:235200 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Transcobalamin Ii Deficiency |
|
Failure to thrive, Pancytopenia, Macrocytic anemia, Irritability, Erythroid hypoplasia, Reticuloc... |
OMIM:275350 |
| Cirrhotic Cardiomyopathy |
|
Conjunctival icterus, Cardiomegaly, Left atrial enlargement, Addictive alcohol use, Left ventricu... |
ORPHA:57777 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatocellular necrosis,... |
OMIM:201475 |
| Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Reduced social reciprocity |
OMIM:617051 |
| Morning Glory Disc Anomaly |
|
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly |
ORPHA:99931 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Copper Deficiency, Familial Benign |
|
Anemia, Failure to thrive |
OMIM:121270 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F |
OMIM:617101 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Irritability, Exaggerated startle response |
OMIM:617864 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Cataract, Renal insufficiency, Mitral valve prolapse, Pulmonary lymphangiectasia |
OMIM:247410 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... |
ORPHA:79277 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dementia, Dystonia, Exaggerated startle response |
OMIM:272750 |
| Myoclonic-Astatic Epilepsy |
|
Attention deficit hyperactivity disorder, Abnormal emotion, Hyperactivity, Reduced social recipro... |
ORPHA:1942 |
| Lead Poisoning |
|
Depression, Imbalanced hemoglobin synthesis, Anorexia, Attention deficit hyperactivity disorder, ... |
ORPHA:330015 |
| Fucosidosis |
|
Abnormality of the gallbladder, Cardiomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly |
ORPHA:349 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Failure to thrive, Exaggerated startle response, Irritability |
OMIM:616881 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Tremor, Cerebellar hypoplasia, Exagger... |
OMIM:620327 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Reduced social reciprocity, Hypothalamic hamartoma, Partial agenesi... |
OMIM:619775 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Dilated cardiomyopathy, Renal insufficiency, Lipid accumulation in hepatocytes, Hydrone... |
OMIM:608836 |
| Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia |
OMIM:616457 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Corneal arcus, Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly,... |
OMIM:602782 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Mental deterioration, Memory impairment, Lateral ventricle dilatation, Shor... |
ORPHA:2822 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Micropenis,... |
OMIM:616897 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... |
OMIM:618314 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Tremor, Exaggerated start... |
OMIM:618056 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response |
OMIM:618201 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Macular degener... |
OMIM:120330 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis |
OMIM:614473 |
| Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, Uveal ectropion... |
OMIM:609049 |
| Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia... |
OMIM:260400 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect |
OMIM:618798 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Agenesis of corpus callosum |
ORPHA:171703 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Emotional lability, Low frustration tolerance, Agenesis of corpus callosum, Reduced social recipr... |
OMIM:309520 |
| Septo-Optic Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the cerebellum, Polydipsia, Anterior pituitary hypoplasia, Agenesis of corp... |
ORPHA:3157 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon |
ORPHA:2570 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Exaggerated startle response |
OMIM:618598 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, C... |
ORPHA:228308 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Cardiomegaly, Hepato... |
OMIM:255120 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, C... |
OMIM:619259 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Retinal detachment, Macular atrophy, Buphthalmos, Iris coloboma |
OMIM:212550 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Coronary artery fistula, Macrocytic anemia, Ventricular septal defect, Attention def... |
OMIM:614294 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Atelis Syndrome 2 |
|
Attention deficit hyperactivity disorder, Thrombocytopenia, Developmental cataract, Anemia, Supra... |
OMIM:620185 |
| Alport Syndrome 2, Autosomal Recessive |
|
Nephritis, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr... |
OMIM:203780 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... |
OMIM:617052 |
| 48,Xxxy Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... |
ORPHA:96263 |
| Knobloch Syndrome |
|
Cataract, Macular degeneration, Ectopia lentis, Bifid ureter, Vesicoureteral reflux, Retinal deta... |
ORPHA:1571 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Short attention span, Exaggerated startle response |
ORPHA:438216 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, Decreased response to growt... |
ORPHA:177907 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Increased circulating prolactin concentration, Panhypopituitarism, Hyperpituitarism, ... |
ORPHA:91351 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Abnormal cerebellum morphology, Attention deficit hyperactivity disorder, ... |
ORPHA:93932 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Dysmetria, Aggressive behavior, Ataxia, Unsteady gait, Abnormal social behavio... |
ORPHA:314647 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, P... |
OMIM:261740 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Cerebellar vermis hypoplasia, Bruxism, Inappropriate laughter, Recurrent... |
OMIM:156200 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Irritability, Impulsivity, Hyperactivity, Thrombocytopenia, Exaggerated startle response, Dystoni... |
OMIM:620423 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Ventricular septa... |
OMIM:614921 |
| Asparagine Synthetase Deficiency |
|
Cerebellar vermis hypoplasia, Dilated third ventricle, Hypoplasia of the pons, Dilated fourth ven... |
OMIM:615574 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Overweight, Persistence of hemoglobin F |
OMIM:619769 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Memory impairment, Reduced social reciprocity, Diminished ability to concentrate, Attention defic... |
OMIM:615656 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Atrophic pituitary gland, Opisthotonus, Thalamic edema |
ORPHA:2177 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Cirrhosis, Cholangiocarcinoma, H... |
ORPHA:465508 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Sandhoff Disease |
|
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... |
OMIM:268800 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Hydronephros... |
OMIM:243605 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Exaggerated ... |
OMIM:617281 |
| Exudative Vitreoretinopathy 6 |
|
Cataract, Nuclear cataract, Tractional retinal detachment, Retinal detachment, Cortical cataract,... |
OMIM:616468 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia |
ORPHA:99867 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Abnormal hear... |
ORPHA:580 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Cognitive impairment |
OMIM:615994 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Depression, Exaggerated startle response |
OMIM:620114 |
| Legius Syndrome |
|
Cataract, Acute monocytic leukemia, Male urethral meatus stenosis, Mitral valve prolapse, Nephrol... |
ORPHA:137605 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Cerebellar hypoplasia, Dysphagia, Reduced social reciprocity |
OMIM:614961 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Emotional lability, Irritability, Polyphagia, Hyperactivity |
ORPHA:525731 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Self-injurious behavior, Depression, Abnormal hemoglobin |
ORPHA:847 |
| Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defe... |
ORPHA:79330 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Mental deterioration, Depression, Dementia, Cerebellar verm... |
ORPHA:646 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
| Bickerstaff Brainstem Encephalitis |
|
Confusion, Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Dysphagia |
OMIM:608013 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| East Syndrome |
|
Salt craving, Polydipsia, Cerebellar atrophy |
ORPHA:199343 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, ... |
OMIM:308940 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Reduced social reciprocity |
OMIM:256600 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Megalocornea, Congenital aphakia, Ventricular septal defect, Cardiomegaly, Renal c... |
ORPHA:137675 |
| Alagille Syndrome 1 |
|
Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria... |
OMIM:118450 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Chiari type I malformation, Attention deficit hyperactivity disorder, Motor stereotypy, Reduced s... |
ORPHA:261197 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Optic atrophy, Renal artery stenosis... |
OMIM:617913 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... |
OMIM:614643 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Reduced social reciprocity |
ORPHA:254531 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced social reciprocity... |
OMIM:300912 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Irritability |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Irritability |
OMIM:304800 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cerebellar hypoplasia, Cerebellar cyst, Exaggerated startle response, Agenesis of corpus callosum |
OMIM:253800 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria, Dysphagia |
ORPHA:268 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Amyloidosis, Hereditary Systemic 1 |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Argininemia |
|
Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Hyperactivity, Anorexia, He... |
OMIM:207800 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Retinal coloboma, Iris cyst, ... |
OMIM:612109 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
| Fucosidosis |
|
Oligosacchariduria, Tortuosity of conjunctival vessels, Splenomegaly, Cardiomegaly, Hepatomegaly,... |
OMIM:230000 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Multicystic kidney dysplasia, Microcornea, Optic atrophy, Pancreatic ... |
ORPHA:564 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... |
ORPHA:1675 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunct... |
OMIM:269200 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa... |
ORPHA:308552 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Reduced social r... |
OMIM:300352 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Depression, Polydipsia, Increased circulating prolactin concentration, D... |
ORPHA:293987 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Irritability, Lateral ventricle dilatation, Exaggerated startle response |
OMIM:618367 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cognitive impairment, Exaggerated startle response |
OMIM:617527 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Confusion, Abnormal cerebellum morphology, Irritability, A... |
ORPHA:68 |
| Holoprosencephaly 7 |
|
Panhypopituitarism, Partial agenesis of the corpus callosum, Fusion of the left and right thalami... |
OMIM:610828 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... |
OMIM:130650 |
| Tuberous Sclerosis Complex |
|
Self-injurious behavior, Depression, Pituitary adenoma, Aggressive behavior, Attention deficit hy... |
ORPHA:805 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Rett Syndrome, Congenital Variant |
|
Bruxism, Reduced social reciprocity, Irritability, Tongue thrusting, Motor stereotypy |
OMIM:613454 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Norrie Disease |
|
Self-injurious behavior, Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnorma... |
ORPHA:649 |
| Abetalipoproteinemia |
|
Hepatic fibrosis, Acanthocytosis, Hepatic steatosis, Reticulocytosis, Abnormality of retinal pigm... |
ORPHA:14 |
| Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hep... |
OMIM:252500 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inappropriate laughter, Cardiomegaly |
OMIM:618143 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Failure to thrive, Impaired oropharyngeal swallow response, Exaggerated startle response |
ORPHA:521426 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy |
OMIM:208000 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Motor stereotypy, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon |
ORPHA:2720 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Self-mutilation, Abnormal pituitar... |
ORPHA:314621 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... |
OMIM:105650 |
| Cystinosis |
|
Polydipsia, Motor stereotypy |
ORPHA:213 |
| Whipple Disease |
|
Depression, Polydipsia, Anorexia |
ORPHA:3452 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Cardiomegaly, Pancreatitis, Re... |
OMIM:620371 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Polydipsia, Glycosuria, Hypernatriur... |
ORPHA:47159 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,... |
ORPHA:54595 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Iris coloboma, Microcornea, Mitral valve prolapse, Ventricular septal defe... |
OMIM:300166 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Fatigable weakness of respiratory muscles, Cardi... |
ORPHA:365 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Conjunctivitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Ca... |
OMIM:620376 |
| Williams Syndrome |
|
Megalocornea, Overfriendliness, Ventricular septal defect, Mitral valve prolapse, Bicuspid aortic... |
ORPHA:904 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Helsmoortel-Van Der Aa Syndrome |
|
