Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Candidiasis, Familial, 4 |
|
Onychomycosis, Recurrent vulvovaginal candidiasis |
OMIM:613108 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Glycogen Storage Disease Xiii |
|
Elevated circulating creatine kinase concentration |
OMIM:612932 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Recurrent bacterial skin infections |
ORPHA:183713 |
Tuftsin Deficiency |
|
Recurrent infections |
OMIM:191150 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chore... |
OMIM:619150 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Hydrocephalus, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive man... |
OMIM:618709 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Hydrocephalus, Congenital, 1 |
|
Seizure, Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Developmental And Epileptic Encephalopathy 97 |
|
Epileptic spasm, Ventriculomegaly, Tremor, Seizure, Stereotypical hand wringing |
OMIM:619561 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, Agitation, Status epi... |
OMIM:617171 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Seizure, Hypertonia |
ORPHA:2807 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, Myoclonus, Dysphagia |
ORPHA:324708 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
Cerebral Cavernous Malformations 3 |
|
Seizure, Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis |
OMIM:603285 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor tics, Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwhee... |
OMIM:619725 |
Brain Small Vessel Disease 2 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Spastic tetraplegia, Intracranial hemorrhage... |
OMIM:614483 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus, Seizure, Abnorma... |
OMIM:619470 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Elevated circulating creatine kinase concentration |
OMIM:616231 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly |
OMIM:611808 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity |
OMIM:615493 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abn... |
OMIM:617862 |
Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Status epilepticus, Focal i... |
OMIM:612691 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Autism, Susceptibility To, X-Linked 3 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:300425 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia, Seizure, Stroke, Cerebral cavernous malformation |
OMIM:603284 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... |
OMIM:615285 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity |
ORPHA:356996 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Lateral ve... |
ORPHA:363654 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Autism |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:607373 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Elevated circulating creatine kinase concentration |
OMIM:618135 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Ataxia, Hemiplegia/hemiparesis, Hydrocephalus, Seizure |
ORPHA:99966 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Strok... |
ORPHA:542310 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Paralysis, Recurre... |
ORPHA:36382 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Seizure, Truncal ataxia, Abnormal repetitiv... |
OMIM:608636 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Clonic seizure, Hydrocephalus, Status epilepticus, Generalized my... |
OMIM:266100 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hydrocephalus, Partial age... |
OMIM:619302 |
Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:608184 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Seizure, Vent... |
OMIM:604213 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... |
ORPHA:101071 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, Typical abs... |
ORPHA:208447 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Parkinsonism, Cerebral hemorrhage, Arterial stenosis, Intracranial hem... |
ORPHA:136 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Self-injurious behavior,... |
OMIM:617904 |
Abeta Amyloidosis, Italian Type |
|
Seizure, Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... |
OMIM:607594 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Infantile spasms, Tonic seizure, Hydrocephalus, Abnormal pyramidal sign, Myocl... |
OMIM:300884 |
Dural Sinus Malformation |
|
Ataxia, Parkinsonism, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Po... |
ORPHA:97339 |
Lissencephaly 4 |
|
Babinski sign, Seizure, Colpocephaly, Hypertonia, Agenesis of corpus callosum |
OMIM:614019 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Seizure, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Seizure, Attention deficit hyperactivity disorder, Compulsive behavi... |
ORPHA:401986 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration, Ulcerative colitis |
OMIM:619398 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Increased circulating IgM level, Recurrent bacterial infections, Decreased circulating IgE, Neutr... |
OMIM:606843 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Tremor, Seizure, Hypertension, Ischemic stroke, Stroke, Hemiplegia |
OMIM:182410 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper... |
OMIM:613101 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Seizure, Hydrocephalus |
ORPHA:2703 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... |
OMIM:615362 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia... |
ORPHA:331206 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Seizure, Self... |
ORPHA:382 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia, Recurrent infections |
OMIM:614493 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... |
OMIM:614561 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Seizure, Cerebral cavernous malformation |
OMIM:116860 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic s... |
ORPHA:725 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... |
OMIM:618963 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Spast... |
OMIM:618917 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
Congenital Atransferrinemia |
|
Arthritis, Anemia, Recurrent infections |
ORPHA:1195 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Seizure, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
Band Heterotopia |
|
Hydrocephalus, Seizure, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ve... |
OMIM:600348 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... |
OMIM:617113 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus |
OMIM:603204 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Elevated circulating creatine kinase concentration |
OMIM:606768 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Ataxia |
OMIM:213000 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia |
OMIM:141500 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Developmental And Epileptic Encephalopathy 107 |
|
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Increased circulating IgM level, Recurrent bacterial infections, Recurrent upper an... |
OMIM:608106 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Ataxia, Parkinsonism, Transient ischemic attack, Paralysis, Paraparesis, CSF... |
ORPHA:140989 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... |
OMIM:308240 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... |
OMIM:613496 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Recurrent respiratory infections, Hypertriglyceridemia, ... |
OMIM:607616 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Dystonia, Oculogyric crisis, Chorea, Stereotypical hand wringing, Myoclonic seiz... |
OMIM:614254 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis... |
OMIM:240500 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Hemophagocytic Syndrome Associated With An Infection |
|
Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir... |
ORPHA:158048 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Aggressive behavior, Focal tonic seizure, Limb tremor, Seizure, Self-injurious behavior, Hyperton... |
OMIM:300699 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C... |
OMIM:618048 |
Wyburn-Mason Syndrome |
|
Cerebral palsy, Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morpholog... |
ORPHA:53719 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... |
OMIM:239500 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... |
ORPHA:101039 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Tetralogy of Fallot |
ORPHA:250994 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... |
OMIM:618357 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, ... |
OMIM:619639 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Clonic seizure, Spastic tetraplegia, Self-injurious behavior, Seizure, Hypertonia, Abnormal repet... |
OMIM:615282 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Developmental And Epileptic Encephalopathy 58 |
|
Seizure, Abnormal repetitive mannerisms, Status epilepticus, Spastic diplegia |
OMIM:617830 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Autoimmune thrombocyt... |
OMIM:619220 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Vascular granular osmiop... |
OMIM:162350 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Self-i... |
OMIM:617493 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... |
OMIM:616341 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... |
ORPHA:250972 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thrombocytopenia, ... |
OMIM:603552 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Seizure, Self-injurious behavior, Dystonia, Spasticity, Abnormal repetitiv... |
OMIM:617820 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increas... |
ORPHA:98813 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... |
OMIM:616421 |
Sneddon Syndrome |
|
Tremor, Chorea, Arterial stenosis, Hemiparesis, Seizure, Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst... |
OMIM:618425 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Increased circulating guanosine ... |
OMIM:613179 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Chronic... |
ORPHA:75564 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Abnormal pyramidal sign, Dysphagia, Ankle clonus, Seizure, Bradykinesia, Hypert... |
OMIM:617435 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Sandhoff Disease, Adult Form |
|
Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Spasticity |
ORPHA:309169 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Infantile spasms, Clumsiness |
ORPHA:324422 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... |
ORPHA:31825 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Tongue thrusting, Lat... |
ORPHA:77299 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior |
OMIM:617709 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:245570 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg... |
ORPHA:86909 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronchiectasis, Recu... |
OMIM:615468 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Abnormal cerebrospinal fluid morphology, Tremor,... |
ORPHA:251282 |
Masa Syndrome |
|
Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Agenesis of corpus callosum... |
OMIM:303350 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystoni... |
OMIM:615924 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... |
ORPHA:216873 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope... |
OMIM:601495 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Tremor, Rigid... |
OMIM:612736 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Hemiparesis, Seizure... |
ORPHA:231160 |
Alexander Disease |
|
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor, Increased C... |
OMIM:203450 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Cardiomyopathy, Dilated, 3B |
|
Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Lissencephaly 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Agenesis of corpus callosum... |
OMIM:611603 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Seizure, Lateral ventricle dilatation, ... |
OMIM:617397 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Abeta Amyloidosis, Dutch Type |
|
Seizure, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis,... |
ORPHA:561854 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs... |
OMIM:616409 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia, Dysphagia |
OMIM:615945 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocytes, Splenomegal... |
OMIM:612840 |
Autism, Susceptibility To, X-Linked 2 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:300495 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... |
OMIM:301078 |
Malaria |
|
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure |
OMIM:617080 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hemiparesis, Focal-onset seizure, Hydrocephalus, Intracranial hemorrhage |
ORPHA:398189 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Elevated circulating creatine kinase concentration |
OMIM:609500 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Infantile ... |
ORPHA:25 |
Developmental And Epileptic Encephalopathy 56 |
|
Ataxia, Poor coordination, Generalized non-motor (absence) seizure, Focal motor seizure, Myocloni... |
OMIM:617665 |
N-Acetylaspartate Deficiency |
|
Seizure, Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia |
OMIM:614063 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Dilation of Virchow-Robin spaces, Tonic seizure, Focal-onset seizure, Partial agene... |
OMIM:619517 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonu... |
ORPHA:2382 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Chor... |
OMIM:618497 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Vascular granular osmiophilic material depos... |
ORPHA:79262 |
Alexander Disease Type I |
|
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Spasticit... |
ORPHA:363717 |
Central Precocious Puberty In Male |
|
Aggressive behavior, Pituitary microadenoma, Hydrocephalus, Seizure, Hypothalamic hamartoma, Atte... |
ORPHA:649929 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt... |
OMIM:229050 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Chorea, Self-injurious behavior, Convulsive status epilepticus, Dystonia, St... |
OMIM:618760 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs... |
OMIM:617600 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Spasticity, Abnormal repetitive ma... |
OMIM:617393 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Landau-Kleffner Syndrome |
|
Speech apraxia, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral t... |
ORPHA:98818 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... |
ORPHA:33355 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... |
OMIM:617389 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Elevated CSF 4-hydrox... |
OMIM:271980 |
Periventricular Nodular Heterotopia 1 |
|
Seizure, Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Restlessness, Bilateral tonic-clonic seizure, Clumsiness, Focal impaired awareness seizure |
OMIM:610003 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:616050 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... |
OMIM:309548 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... |
OMIM:147060 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Seizure, Hydrocephalus |
ORPHA:1008 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... |
OMIM:116920 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... |
OMIM:607317 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... |
ORPHA:100973 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Seizure, Later... |
OMIM:609637 |
Immunodeficiency 19 |
|
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... |
OMIM:615617 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Vascular granular osmiophilic materi... |
OMIM:204300 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Infantile spasms, Hydrocephalus, Spastic tetraplegia, Myoclonic seizure, Seizure, Hyperto... |
OMIM:618174 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Hydrocephalus, Generalized non-motor (absence) seizure, Focal impaired aware... |
OMIM:616521 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Dysmetria, Gait a... |
OMIM:618090 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hydrocephalus, ... |
OMIM:300558 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomoto... |
OMIM:612716 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... |
ORPHA:169090 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath... |
ORPHA:280679 |
Nasu-Hakola Disease |
|
Hydrocephalus, Chorea, Seizure, Disinhibition, Oculomotor apraxia, Spasticity, Ventriculomegaly |
ORPHA:2770 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... |
OMIM:616139 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Seizure, Spasticity, Ventriculomegaly |
OMIM:304100 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Seizure, Holoprosencephaly, Spasticit... |
ORPHA:2182 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Increased CSF homovanillic a... |
OMIM:613135 |
Fried Syndrome |
|
Hydrocephalus, Spastic diplegia, Aggressive behavior |
ORPHA:85335 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Generalized non-motor (... |
OMIM:619157 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... |
ORPHA:79124 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Elevated circulating luteinizing hormone l... |
OMIM:300845 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seizure, Seizure, Lateral ventri... |
OMIM:615716 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Meningitis... |
ORPHA:3392 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Abnormal repetitive mannerisms, Tetraparesis, Ventriculomegaly |
ORPHA:85277 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... |
OMIM:102700 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardiogenic shock, N... |
ORPHA:449285 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hypertrophic cardiomyopathy |
OMIM:620270 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lactate, Choreoathetosi... |
OMIM:616034 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Dystonia, Spasticity, Apraxia |
OMIM:615889 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent bacte... |
OMIM:300400 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor |
OMIM:601068 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619301 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased ... |
OMIM:615758 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... |
OMIM:615006 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... |
ORPHA:47612 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infections, Impa... |
OMIM:617443 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity d... |
ORPHA:261102 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... |
ORPHA:47 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Dystonia |
ORPHA:306669 |
Sulfide:Quinone Oxidoreductase Deficiency |
|
Elevated circulating creatine kinase concentration |
OMIM:619221 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Tremor, Rigidity, CSF pleocytosis, Seizure, Syncope, Increased CSF protein concentration,... |
OMIM:603472 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:94080 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Seizure, Self-injurious behavior, Bruxism, Spasticity, Abnormal repetitive... |
OMIM:618718 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Enlarged sylvian cistern, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, ... |
OMIM:619616 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Infantile spasms, Tonic seizure, Focal motor seizure, Myoclonic seizure, Lateral ventricle dilata... |
OMIM:618890 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... |
ORPHA:485350 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Severe i... |
OMIM:304790 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Elevated circulating creatine kinase concentration |
OMIM:310095 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Impulsivity... |
OMIM:619028 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Elevated circulating creatine kinase concentration |
OMIM:616094 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Tremor, Typ... |
ORPHA:2590 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic seizure, Aggressive b... |
OMIM:619580 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... |
OMIM:104290 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Elevated circulating creatine kinase concentration |
OMIM:613152 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity |
OMIM:613722 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dy... |
OMIM:618093 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Optic neuritis, Malar ras... |
OMIM:301080 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Attention deficit hyperactivity dis... |
OMIM:619191 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... |
OMIM:618924 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis... |
OMIM:213600 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Leukopenia, Rhiniti... |
ORPHA:507 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Seizure, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait ataxia |
ORPHA:488635 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:613608 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Myoclonus, Dysphagia, Spastic paraparesis, Ve... |
ORPHA:391417 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Infantile spasms, Tremor, Tongue thrusting... |
ORPHA:3095 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Ataxia, Increased CSF alanine concentration, Babinski sign, Spast... |
OMIM:619065 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
C1Q Deficiency 2 |
|
Chilblains, Elevated circulating C-reactive protein concentration, Pneumocystis carinii pneumonia... |
OMIM:620321 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Seizure, Hydrocephalus, Spastic tetraplegia, Congestive heart failure |
OMIM:300886 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculopapular... |
ORPHA:540 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Sepsis, Hyperammonemia, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Spastici... |
OMIM:226750 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Self-injurious behavior, Hyperkinetic movements, ... |
OMIM:618218 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Epistaxis, Spastic paraplegia, Intracranial hemor... |
ORPHA:369929 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... |
OMIM:620352 |
Congenital Hydrocephalus |
|
Seizure, Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Dys... |
ORPHA:71517 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Tremor, Hypovolemia, Seizure, Ischemic stroke, Hypo... |
ORPHA:90068 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity |
OMIM:300983 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Ventriculomegaly, Status epilepticus |
OMIM:620200 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Severe i... |
ORPHA:2686 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Babinski sign, Ataxia, Hydrocephalus |
ORPHA:73256 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Recurrent i... |
OMIM:617591 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Progressive spastic paraplegia, Colpocephaly, Spastic gait, Limb hypertonia |
ORPHA:401815 |
Developmental And Epileptic Encephalopathy 37 |
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Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... |
OMIM:616981 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Candida esophagitis, Leukocytosis, Recurrent pneumonia, Decreased circulating total... |
OMIM:619281 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
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Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Lower limb spasticity, Hyperactivity, Resting tremor, Parkinsonism, Anorexia, Aggressive behavior... |
ORPHA:3077 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Seizure, Focal im... |
ORPHA:330050 |
Systemic Lupus Erythematosus |
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Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... |
OMIM:613670 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Rigidity, Focal mo... |
OMIM:619911 |
Good Syndrome |
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Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Hydranencephaly |
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Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... |
ORPHA:2177 |
Hyperphenylalaninemia, Bh4-Deficient, A |
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Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hyperto... |
OMIM:261640 |
Hereditary Hemorrhagic Telangiectasia |
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Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Immunodeficiency 23 |
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Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, All... |
OMIM:615816 |
Ataxia-Pancytopenia Syndrome |
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Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Congenital Factor V Deficiency |
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Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
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Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
Myoclonic Epilepsy, Familial Infantile |
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Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Seizure, G... |
OMIM:605021 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... |
ORPHA:240103 |
Aicardi-Goutieres Syndrome 5 |
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Chilblains, Thrombocytopenia, Increased circulating interferon-gamma concentration |
OMIM:612952 |
Oxoglutarate Dehydrogenase Deficiency |
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Bilateral tonic-clonic seizure, Rigidity, Dysmetria, Gait ataxia, Dystonia, Ventriculomegaly |
OMIM:203740 |
Immunodeficiency 27A |
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Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Incre... |
OMIM:209950 |
Atelis Syndrome 1 |
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Eczema, Bronchiectasis, Recurrent infections, Anemia, Leukopenia, Thrombocytopenia |
OMIM:620184 |
Methylmalonic Acidemia With Homocystinuria |
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Seizure, Hydrocephalus |
ORPHA:26 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Aggressive behavior, Babinski sign, Seizure, Lateral ventricle dilatation, Inappropriate behavior... |
OMIM:221770 |
Developmental And Epileptic Encephalopathy 49 |
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Ventriculomegaly, Hyperactivity, Bilateral tonic-clonic seizure, Exaggerated startle response, Fa... |
OMIM:617281 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
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Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... |
OMIM:617836 |
Obesity, Hyperphagia, And Developmental Delay |
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Seizure, Abnormal repetitive mannerisms, Polyphagia, Generalized non-motor (absence) seizure |
OMIM:613886 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
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Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Circumvallate Placenta Syndrome |
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Intracranial hemorrhage |
OMIM:215550 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Dilated fourth ventricle, Seizure, Lateral ventricle dilatation, Abnormal repetitive mannerisms, ... |
OMIM:613443 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
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Restless legs, Postural tremor, Hydrocephalus, Babinski sign, Vocal cord paralysis, Hand tremor, ... |
ORPHA:99947 |
Cerebral Visual Impairment |
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Cerebral palsy, Hydrocephalus, Clumsiness, Intracranial hemorrhage, Seizure, Ischemic stroke, Att... |
ORPHA:447788 |
Spinocerebellar Ataxia 38 |
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Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Gamma-Heavy Chain Disease |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytop... |
ORPHA:100026 |
Spinocerebellar Ataxia Type 20 |
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Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Hydrocephalus, Congenital, 4 |
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Communicating hydrocephalus, Seizure, Ventriculomegaly |
OMIM:618667 |
Fibronectin Glomerulopathy |
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Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Hemangioma-Thrombocytopenia Syndrome |
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Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Glanzmann Thrombasthenia 1 |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Aicardi-Goutieres Syndrome 3 |
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Chilblains, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Polymicrogyria Due To Tubb2B Mutation |
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Focal-onset seizure, Oromotor apraxia, Hemiparesis, Seizure, Lateral ventricle dilatation, Abnorm... |
ORPHA:300573 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Infantile Neuronal Ceroid Lipofuscinosis |
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Generalized-onset seizure, Ataxia, Dystonia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine mot... |
ORPHA:79263 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
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Abnormal bleeding, Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Cephaloh... |
ORPHA:853 |
Intellectual Developmental Disorder, X-Linked 1 |
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Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior |
OMIM:309530 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... |
OMIM:619644 |
Developmental And Epileptic Encephalopathy 52 |
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Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... |
OMIM:617350 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Aicardi-Goutieres Syndrome 6 |
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Splenomegaly, Hemolytic anemia, Chilblains, Thrombocytopenia |
OMIM:615010 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Fetal Parvovirus Syndrome |
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Thrombocytopenia, Anemia |
ORPHA:295 |
Frontal Encephalocele |
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Encephalocele, Seizure, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Hydrocephalus, Hemiparesis, Seizure, Fusion of the left and right thalami, Agenesis of corpus cal... |
OMIM:617542 |
Acys Amyloidosis |
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Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
Aicardi-Goutieres Syndrome 4 |
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Hydrocephalus, CSF lymphocytic pleiocytosis, Seizure, Dystonia, Spasticity, Ventriculomegaly |
OMIM:610333 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Seizure, Colpocephaly |
OMIM:614870 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Fanconi Anemia, Complementation Group V |
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Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
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Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Aortic valve stenosis, Spasticity |
OMIM:615599 |
Mitochondrial Trifunctional Protein Deficiency 2 |
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Tricuspid regurgitation, Bilateral tonic-clonic seizure, Cerebral hemorrhage, Dilated cardiomyopa... |
OMIM:620300 |
Bilateral Striopallidodentate Calcinosis |
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Thrombocytopenia |
ORPHA:1980 |
Spinocerebellar Ataxia 40 |
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Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Atypical Hemolytic Uremic Syndrome |
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Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Babesiosis |
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Hemolytic anemia, Splenomegaly, Recurrent pharyngitis, Recurrent infections, Leukopenia, Thromboc... |
ORPHA:108 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... |
OMIM:604416 |
Refractory Anemia With Excess Blasts |
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Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Developmental And Epileptic Encephalopathy 32 |
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Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Epilepsy, Myoclonic Juvenile |
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Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Intellectual Developmental Disorder, X-Linked 103 |
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Seizure, Lateral ventricle dilatation |
OMIM:300982 |
Leukoencephalopathy With Vanishing White Matter 5 |
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Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
Neurocutaneous Melanocytosis |
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Meningocele, Hemiparesis, Seizure, Intracranial hemorrhage, Dandy-Walker malformation, Ventriculo... |
ORPHA:2481 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Seizure, Increased CSF phenylalanine concentration, ... |
OMIM:233910 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
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Febrile seizure outside the age of 3 months to 6 years, Dilation of Virchow-Robin spaces, Aggress... |
OMIM:617788 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
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Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Developmental And Epileptic Encephalopathy 94 |
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Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Bleeding Disorder, Platelet-Type, 24 |
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Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Congenital Disorder Of Glycosylation, Type Iif |
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Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
Congenital Enterovirus Infection |
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Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Meningiti... |
ORPHA:292 |
Pontocerebellar Hypoplasia, Type 11 |
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Ataxia, Poor coordination, Limb ataxia, Seizure, Self-injurious behavior, Agenesis of corpus call... |
OMIM:617695 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
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Generalized-onset seizure, Cerebral palsy, Dilation of Virchow-Robin spaces, Infantile spasms, Fo... |
ORPHA:2148 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Chorea, Hemiparesis, Seizure, Self-injurious behavior, Status epil... |
OMIM:618004 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Myocardial... |
ORPHA:457240 |
Christianson Syndrome |
|
Generalized-onset seizure, Dystonia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphag... |
ORPHA:85278 |
Myopathy, Centronuclear, 4 |
|
Abnormal circulating creatine kinase concentration |
OMIM:614807 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Sei... |
OMIM:612016 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
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Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dys... |
ORPHA:53583 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Spastic par... |
ORPHA:329284 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo... |
OMIM:617290 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... |
OMIM:620292 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatitis, Anemia |
ORPHA:27 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dilated fourth ventricle, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizur... |
OMIM:614831 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykines... |
OMIM:300423 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity, Agenesis of corpus callosum |
OMIM:307000 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Increased CSF lactate, Seizure, Progressive cerebellar ataxia, M... |
ORPHA:139485 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Clumsiness, Bradykines... |
OMIM:617854 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration |
ORPHA:243343 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hand tremor, Limb ataxia, Lateral ventricle dilatation, Tongue fasciculations, Fasciculat... |
OMIM:607596 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Bradykinesia, Dysphagia |
OMIM:128235 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Increased CSF lactate, Choreoathetosis, Seizure, Dystonia, Hypoglycorrhachia |
OMIM:612126 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Seizure, Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthoton... |
OMIM:619847 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Self-mutilation, Inappropriate laughter, Aggressive behavior |
OMIM:616269 |
L1 Syndrome |
|
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Seizure, Spasticity |
ORPHA:275543 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... |
OMIM:605850 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Seizure, Spastic gait |
OMIM:600363 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Agenesis of corpus callosum |
OMIM:610245 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
OMIM:612069 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Cln5 Disease |
|
Hyperactivity, Generalized-onset seizure, Abnormal central motor function, Ataxia, Aggressive beh... |
ORPHA:228360 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Hemiparesis, Seizure, Intracranial hemorrhage, Arteriov... |
ORPHA:624 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... |
ORPHA:3243 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Myocl... |
OMIM:617810 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Pettigrew Syndrome |
|
Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Stereotypical hand wringing, Gait ataxia... |
OMIM:304340 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Elevated circulating creatine kinase concentration |
OMIM:613158 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Intraventricular hemorrhage, Spastic tetraplegia, Increased CSF lactate, Seizure, Prolong... |
OMIM:619055 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Gout, Recurrent infections, Hyperuricemia, Neutrop... |
OMIM:617056 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Sp... |
OMIM:213200 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, ... |
OMIM:614487 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration |
OMIM:309930 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Hepato... |
OMIM:612541 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Focal-onset seizure, ... |
ORPHA:168491 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Multifocal seizures, Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Spastic tetrapl... |
OMIM:617710 |
Immunodeficiency 40 |
|
Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia... |
OMIM:616433 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Dystonia, Seizure, Agitation, Bruxism, Recurrent hand flapping, Ventriculomegaly |
OMIM:617903 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, Leukocytosi... |
OMIM:619652 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Saccharopinuria |
|
Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull... |
ORPHA:3124 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic ... |
OMIM:600721 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure |
OMIM:619690 |
5Q14.3 Microdeletion Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Ventriculomegaly |
ORPHA:228384 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Abnormality of... |
ORPHA:848 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Dysphag... |
OMIM:207950 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Chronic infection, Hepatosplenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
ORPHA:210110 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Spastic dysarthria, Seizure, Dystonia, Spasticity, Abnormal repetitive mannerisms,... |
ORPHA:280763 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Ventriculomegaly |
OMIM:619556 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
Prolidase Deficiency |
|
Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Re... |
OMIM:170100 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... |
OMIM:606703 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... |
OMIM:607115 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Recurrent skin infections, Thrombocytopenia |
OMIM:614171 |
4Q21 Microdeletion Syndrome |
|
Tremor, Seizure, Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive manner... |
ORPHA:238750 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... |
ORPHA:36234 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia |
ORPHA:1532 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Myoclonus, Tongue fasciculations, Dysphagia, Generalized myocl... |
OMIM:159950 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Febr... |
ORPHA:289266 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agita... |
OMIM:607485 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Seizure, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Autism, Susceptibility To, 3 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:608049 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Hyperkalemia, Sepsis, Leukope... |
OMIM:617053 |
Lissencephaly 5 |
|
Seizure, Hydrocephalus, Spastic paraplegia, Occipital encephalocele |
OMIM:615191 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Pancreatitis, Anemia |
ORPHA:79312 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Iron deficiency anemia, Inflammation of the large intestine, Absent mic... |
OMIM:301000 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Spasticity |
ORPHA:397951 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... |
OMIM:604250 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Increased CSF lactate, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia, Ag... |
OMIM:312170 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic stat... |
OMIM:619913 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... |
OMIM:606159 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... |
OMIM:619854 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, P... |
ORPHA:79264 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Involuntary move... |
ORPHA:98784 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov... |
OMIM:619738 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Seizure, Hydrocephalus, Mitral regurgitation |
ORPHA:83473 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Leukopenia, Increased circulating... |
ORPHA:319218 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Seizure, Lateral ventricle dilatation, Spastic tetraparesis, Dystonia |
OMIM:617668 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... |
OMIM:620141 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Preeclampsia |
|
Helicobacter pylori infection, Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepati... |
ORPHA:391487 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Seizure, Dysphagia, Self-mutilation |
OMIM:619422 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Pica, Seizure, Fetal intraventricular hemorrhage, Spasticity, Recurrent hand flapping, Limb hyper... |
OMIM:618480 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:276621 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... |
OMIM:606693 |
Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
Meningioma |
|
Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Ataxia, Reduced circ... |
ORPHA:2495 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Meningitis, Arthritis, Increased circulatin... |
ORPHA:448237 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Rigidity, Abnormal pyramidal... |
ORPHA:199354 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive... |
ORPHA:544254 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ab... |
OMIM:618342 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... |
ORPHA:101028 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis of ... |
OMIM:619955 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... |
ORPHA:3226 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin... |
OMIM:615157 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Vascular dilatation, Hydrocephalus, Patent ductus arteriosus, Truncal a... |
OMIM:220220 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... |
ORPHA:254881 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Pancytopenia, Hypertriglyceridemia, Skin rash, Increased circulati... |
OMIM:603553 |
Glutaric Acidemia I |
|
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Lateral ventri... |
OMIM:231670 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Repetitive compulsive behavior, Seizure, Hypertonia, Compulsive be... |
ORPHA:352490 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Impa... |
OMIM:608233 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... |
OMIM:614307 |
Williams-Beuren Region Duplication Syndrome |
|
Speech apraxia, Decreased response to growth hormone stimulation test, Hydrocephalus, Patent duct... |
OMIM:609757 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthr... |
ORPHA:313772 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, F... |
OMIM:175780 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Dystonia, Li... |
ORPHA:324588 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, T2 hypointense tha... |
ORPHA:157846 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Seizure, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetr... |
OMIM:183090 |
Avian Influenza |
|
Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:454836 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Recurrent pneumonia... |
OMIM:617718 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Krabbe Disease |
|
Hydrocephalus, Seizure, Hypertonia, Decerebrate rigidity, Progressive spasticity, Increased CSF p... |
OMIM:245200 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumulation, ... |
OMIM:618291 |
Ritscher-Schinzel Syndrome 4 |
|
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... |
OMIM:619435 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Infantile spasms, Aggressive behavior, Noncommunicating hydrocephalus, Clumsiness, Seizur... |
OMIM:619320 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Pseudo-Torch Syndrome 3 |
|
Seizure, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Greig Cephalopolysyndactyly Syndrome |
|
Seizure, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Elevated circulating C-reacti... |
OMIM:615934 |
Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Seizure, Hypertonia, Holoprosencephaly |
ORPHA:588 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... |
OMIM:619121 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
Myoglobinuria, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration |
OMIM:160010 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Thrombocytopenia |
ORPHA:3327 |
Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, Anemia |
ORPHA:37748 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Tremor, Dysmetria, Seizu... |
ORPHA:289494 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Seizure, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Sei... |
ORPHA:363400 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Seizure, Arrhythmia, Agenesis of corp... |
OMIM:608836 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Seizure, Hydrocephalus |
OMIM:618302 |
Noonan Syndrome 12 |
|
Lymphopenia, Atopic dermatitis, Thrombocytopenia |
OMIM:618624 |
Superficial Siderosis |
|
Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Ataxia, Subarac... |
ORPHA:247245 |
Acquired Purpura Fulminans |
|
Thrombocytopenia, Skin rash, Sepsis, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Progressive spasticity |
OMIM:619972 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Generalized-onset seizure, Gait ataxia, Dystonia, Spasticity, Abnormal repetitive mannerisms, Ven... |
OMIM:617807 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... |
OMIM:610377 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Abnormal repetitive mannerisms, Generalized non-motor (absence) seizure, Focal ... |
ORPHA:411986 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increased circulating IgM le... |
ORPHA:83313 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dila... |
OMIM:618914 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hydrocephalus... |
ORPHA:395 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Seizure, Dysphagia, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:163961 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia |
OMIM:619151 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Hepatoportal Sclerosis |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Recurrent infections, Leukopenia, Hypoalbuminemia,... |
ORPHA:64743 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Cog4-Cdg |
|
Neonatal sepsis, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hypercholester... |
ORPHA:263501 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Psoriasiform dermatitis, Recurrent ear infections, Recurrent ... |
ORPHA:221139 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Tremor, Seizure, Dysphagia, Limb hypertonia |
OMIM:617162 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... |
ORPHA:263516 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:608068 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Infantile spasms |
OMIM:278780 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia |
OMIM:617916 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Splenome... |
OMIM:615895 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Ventriculomegaly |
OMIM:616430 |
Menkes Disease |
|
Epileptic spasm, Babinski sign, Intracranial hemorrhage, Seizure, Hypertonia |
OMIM:309400 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure, Hypertonia, Abnormal repetiti... |
OMIM:619877 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Seizure, Inappropriate laughter, Febrile seizure (within t... |
OMIM:614104 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, De... |
OMIM:300972 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Patent ductus arteriosus, Seizure, Lateral ventricle dil... |
OMIM:617751 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Partial agenesis of the corpus callosum... |
ORPHA:79243 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... |
ORPHA:206443 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Head-banging, Seizure, Onychotillomania, Abnormal repetitive manneri... |
OMIM:182290 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Hydrocephalus, Seizure, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Hyperhom... |
OMIM:277380 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Nipah Virus Disease |
|
Anorexia, Tremor, Seizure, Myoclonus, Hypotension |
ORPHA:99825 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept... |
OMIM:613970 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re... |
ORPHA:240085 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Thrombocytopenia |
OMIM:619751 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Head-banging, Hematochezia, Seizure, Lateral ventricle dilatation, Self-injurious ... |
OMIM:619575 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ventriculomegaly, Ataxia, Generalized clonic seizure, Tremor, Focal-onset ... |
OMIM:619229 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Seizure, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Myelopathy, Myoclonic seizure, Increased CSF... |
OMIM:617186 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Bilateral tonic-clonic seizure |
OMIM:619278 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculom... |
ORPHA:1170 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... |
OMIM:603903 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, ... |
ORPHA:171680 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Involuntary movements, Infantile spasms, Myoclonic seizure, Dysphagia, Spasticity, Abnormal repet... |
ORPHA:572013 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:29072 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Seizure, Hydrocephalus |
OMIM:260500 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Intracranial ... |
ORPHA:91350 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Clonus, Hydrocephalus, Abnormal pyramidal sign... |
ORPHA:370959 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enlarged sylvian cistern, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (a... |
OMIM:615802 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... |
ORPHA:90051 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Focal-onset seizure, Hydrocephalus, Spastic tetraplegia, Seizure, Inappropriate... |
OMIM:618476 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Congenital Toxoplasmosis |
|
Seizure, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Infantile spasms, Myoclonic seizure, Attention deficit hyperactivity disorder, Pu... |
OMIM:618205 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Hepatitis, Decreased circulating antibody level, Leukop... |
ORPHA:381 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Tubulointerstitial nephritis, Leukopenia, Hyperglycinemia... |
OMIM:251000 |
Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-W... |
OMIM:614424 |
Alg2-Cdg |
|
Seizure, Lateral ventricle dilatation, Infantile spasms |
ORPHA:79326 |
Myoclonic-Astatic Epilepsy |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... |
ORPHA:1942 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Aggressive behavior, Seizure, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of ... |
OMIM:619244 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Generalized-onset seizure, Decreased response to growth hormone stimulation test,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Generalized-onset seizure, Decreased response to growth hormone stimulation test,... |
ORPHA:363958 |
Shukla-Vernon Syndrome |
|
Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Abnormal rep... |
OMIM:301029 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Amelocerebrohypohidrotic Syndrome |
|
Seizure, Hydrocephalus, Spasticity |
ORPHA:1946 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Cach Syndrome |
|
T2 hypointense thalamus, Truncal ataxia, Dysmetria, Limb ataxia, Spastic diplegia, Seizure, Later... |
ORPHA:135 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Spastic par... |
OMIM:300894 |
Hijazi-Reis Syndrome |
|
Ankle clonus, Seizure, Abnormal repetitive mannerisms, Lower limb spasticity |
OMIM:301094 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Limb dystonia, Multifocal seizures, Ataxia, Aggressive behavior, Tremor... |
ORPHA:572798 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema, Thrombocytop... |
ORPHA:398124 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Seizure, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Clonus, Hypoglycemic seizures, Hypertonia, Abnormal EKG, Ataxia, Seizure, Prolonged QT interval, ... |
ORPHA:480864 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Recurrent ... |
OMIM:617303 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubati... |
OMIM:607483 |
Xq28 (MECP2) duplication |
|
Gait ataxia, Seizure, Progressive spasticity, Dysphagia, Abnormal repetitive mannerisms |
DECIPHER:45 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilation of Virchow-Robin spaces, Aggressive behavior, Dysplastic corpus callosum, Seizure, Later... |
ORPHA:544488 |
Propionic Acidemia |
|
Pancytopenia, Eczema, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Pancreatiti... |
OMIM:606054 |
Houge-Janssens Syndrome 1 |
|
Multifocal seizures, Hydrocephalus, Gait ataxia, Seizure, Ventriculomegaly |
OMIM:616355 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Formiminoglutamic Aciduria |
|
Anemia, Abnormal circulating histidine concentration, Megaloblastic anemia |
ORPHA:51208 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Spastic diplegia |
OMIM:619420 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis |
ORPHA:403 |
Lesch-Nyhan Syndrome |
|
Anemia, Hyperuricemia, Gout |
ORPHA:510 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Gait ataxia, Seizure, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Spastic tetraparesis, Seizure, Lateral ventricle dilatation, Hypertonia, Myoclonus |
ORPHA:284417 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Seizure, Self-injurious behavior, Abnormal repetitive manneris... |
ORPHA:228402 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia |
OMIM:243500 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dysphagia, Spasticity |
OMIM:607694 |
Trisomy X |
|
Tremor, Seizure, Attention deficit hyperactivity disorder |
ORPHA:3375 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, T... |
OMIM:300912 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level |
ORPHA:35706 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... |
ORPHA:98850 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Chronic infection, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Stomati... |
ORPHA:520 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Poor fine motor coordination, Lateral ventricle dilatation, Patent ductus arteriosus |
OMIM:618330 |
Overlap Myositis |
|
Elevated circulating creatine kinase concentration, Severe infection, Arthritis, Leukopenia, Rheu... |
ORPHA:206572 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Seizur... |
ORPHA:442835 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop... |
ORPHA:508542 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Dystonia, Spas... |
ORPHA:765 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia, Hypoalbuminem... |
OMIM:226300 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Hemiparesis, Hypertension, Arteriosclerosis, Stroke, Total a... |
ORPHA:494424 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Recurrent opportunistic infections, Thrombocytopenia |
OMIM:613987 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia |
OMIM:246400 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Hypertriglyce... |
OMIM:619573 |
Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Status epile... |
OMIM:615673 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Dystonia, Limb hypert... |
ORPHA:70594 |
Medulloblastoma |
|
Ataxia, Hydrocephalus, Cerebellar hemorrhage, Dysmetria, Progressive cerebellar ataxia, Cerebella... |
ORPHA:616 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Paraparesis, Hydrocepha... |
ORPHA:2356 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... |
ORPHA:64280 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Paraplegia, Seizure, Agitation, Stroke, Cerebral ischemia, Abnormal repetitive mannerisms |
ORPHA:927 |
Adams-Oliver Syndrome 2 |
|
Seizure, Hydrocephalus, Lateral ventricle dilatation, Limb hypertonia |
OMIM:614219 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Self-injurious behavior, Attention deficit hyperactivity disorder, Comp... |
OMIM:617044 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Greig Cephalopolysyndactyly Syndrome |
|
Seizure, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Seizure, Spasticity, Abnormal repetitive mannerisms, Self-mutilation,... |
OMIM:300486 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hydrocephalus, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, My... |
OMIM:614969 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Ataxia, Tonic seizure, Rigidity, Repetitive compulsive behavior, Chorea, G... |
OMIM:300260 |
Riboflavin Transporter Deficiency |
|
Ataxia, Aggressive behavior, Tremor, Seizure, Hypertension, Myoclonus, Dysphagia |
ORPHA:97229 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Seizure, Colpocephaly, Infantile spasms |
OMIM:618731 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Seizure,... |
OMIM:618877 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Leukopenia, Abnormal circu... |
ORPHA:470 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia, Recurrent infections |
OMIM:619463 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... |
OMIM:608643 |
48,Xxyy Syndrome |
|
Ataxia, Tremor, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:10 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Seizure, Hypertonia |
ORPHA:85212 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Spastic tetraparesis, Patent ductus arteriosus, Hydrocephalus, Seizure, Hypertonia |
ORPHA:171839 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Seizure, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, ... |
OMIM:225790 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Cerebral hemorrhage, Dysphagia |
OMIM:620278 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating... |
ORPHA:90362 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Decreased specifi... |
OMIM:614576 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Hydrocephalus, Aortic regurgitation |
ORPHA:2181 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual infection, Myocarditis, ... |
ORPHA:781 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... |
OMIM:242900 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Blepharitis, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Nephritis, Congenit... |
ORPHA:182050 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Patent ductus arteriosus, Hydrocephalus, Seizure, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Skin-picking, Arrhythmia, A... |
OMIM:600430 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Cerebral palsy, Ataxia, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly... |
OMIM:619833 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:1516 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Hypertonia, Photosensit... |
ORPHA:1192 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Infantile Sialic Acid Storage Disease |
|
Seizure, Hydrocephalus, Congestive heart failure |
OMIM:269920 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
Galloway-Mowat Syndrome 6 |
|
Seizure, Paroxysmal bursts of laughter, Abnormal repetitive mannerisms, Decreased response to gro... |
OMIM:618347 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increa... |
ORPHA:1304 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... |
OMIM:313900 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 mo... |
ORPHA:477673 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Severe cytomegalovirus infection, Increase... |
OMIM:300291 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Hydrocephalus, Seizure, Obsessive-compulsive trait, Abnormal te... |
ORPHA:500055 |
Holocarboxylase Synthetase Deficiency |
|
Eczema, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia, Perioral eczema |
ORPHA:79242 |
Alexander Disease |
|
Ataxia, Clonus, Sudden cardiac death, Aqueductal stenosis, Tremor, Hydrocephalus, Chorea, Abnorma... |
ORPHA:58 |
Temple Syndrome |
|
Hydrocephalus, Polyphagia, Decreased response to growth hormone stimulation test |
ORPHA:254516 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper m... |
ORPHA:530983 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Splenomegaly, Meningitis, Uveitis, Arthritis, Recurrent bacterial infect... |
ORPHA:36412 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:251046 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Seizure, Self-injurious behavior, Mitral regurgitation, Attention deficit hy... |
ORPHA:313892 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,... |
ORPHA:544482 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obsessive-compulsive trai... |
OMIM:618825 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Seizure, Ataxia |
ORPHA:1861 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Hyperkinetic movements, Lim... |
ORPHA:93958 |
Necrotizing Enterocolitis |
|
Hyponatremia, Neonatal sepsis, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Ocul... |
ORPHA:529665 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia |
ORPHA:251274 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Self-injurious behavior, Oral ca... |
ORPHA:324636 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Seizure, Tachycardia, Agitation |
ORPHA:276608 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Spastic gait |
OMIM:616795 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the macula, L... |
ORPHA:845 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Ataxia, Oculomotor apraxia, Abnormal ... |
OMIM:610688 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Shigellosis |
|
Hyponatremia, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Abnor... |
ORPHA:810 |
Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Skin rash, Anemia |
ORPHA:290 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... |
OMIM:137440 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Halperin-Birk Syndrome |
|
Generalized-onset seizure, Focal-onset seizure, Spastic tetraplegia, Colpocephaly, Pseudobulbar p... |
OMIM:618651 |
Rett Syndrome |
|
Limb apraxia, Increased CSF lactate, Bradykinesia, Seizure, Agitation, Dystonia, Abnormal repetit... |
ORPHA:778 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Dysphagia, Increased CSF lactate, Choreoathetosis, Seizure, Dystonia, Spasticity |
OMIM:617664 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Abnormal thalamic MRI signal intens... |
ORPHA:309155 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Anorexia, Myocardial infarction, Myocarditis, ... |
ORPHA:3452 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Spastic paraplegia, Lateral ventricle dilatation, Lower ... |
OMIM:617296 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Seizure, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
Edinburgh Malformation Syndrome |
|
Seizure, Hydrocephalus, Hypertonia |
ORPHA:1895 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Abno... |
ORPHA:464343 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Leukopenia, Increase... |
ORPHA:77259 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Seizure, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity... |
ORPHA:79254 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Focal emotional seizure with crying, Hypothalamic hamarto... |
OMIM:241800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia, Anemia |
ORPHA:371 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Ataxia, Tremor, Hydrocephalus, Seizure, Oculomotor apraxia, Agenesis of corpus cal... |
ORPHA:220497 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ankle clonus, Lateral ventricle dilatation, Lower limb... |
OMIM:619995 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Choreoathetosis, Seizure, Attention deficit hyperactivity disorder, Dystonia, Abn... |
ORPHA:261197 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Clumsiness, Poor fine motor coordination, ... |
ORPHA:137898 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Focal-onset seizure, Abnormal repetitive mannerisms, Partial agenesi... |
ORPHA:300570 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Elevated circulat... |
OMIM:242840 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Seizure, Attention deficit hyperactivity disorder, Aortic valve stenosis, Agenesis... |
ORPHA:459061 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Seizure, Lateral ventricle dilatation, Hypertonia, Myoclonus, Spasticit... |
ORPHA:3078 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... |
OMIM:618060 |
Omenn Syndrome |
|
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Erythroderma, Abnormal ... |
ORPHA:39041 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Atopic dermatitis, T... |
ORPHA:3240 |
Pyruvate Carboxylase Deficiency |
|
Dystonia, Ataxia, Increased CSF alanine concentration, Anorexia, Infantile spasms, Generalized cl... |
ORPHA:3008 |
Optic Pathway Glioma |
|
Seizure, Hydrocephalus |
ORPHA:2086 |
Spinocerebellar Ataxia Type 27 |
|
Aggressive behavior, Tremor, Hand tremor, Gait ataxia, Limb ataxia, Truncal ataxia |
ORPHA:98764 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Seizure, Att... |
OMIM:620242 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Patent ductus arteriosus, Tongue thrusting, Spastic tetraplegia, ... |
OMIM:220120 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... |
ORPHA:137667 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Acute lymphoblastic leuk... |
OMIM:606593 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Seizure, Hyperkinetic movements, Spasticity, Ventriculomegaly |
OMIM:300957 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Involuntary movements, Babinski sign, Leg dystonia, Increased CSF lactate,... |
ORPHA:565624 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Seizure, Compulsive behaviors, Spa... |
OMIM:618430 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... |
OMIM:224120 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Dysplastic corpus callosum,... |
ORPHA:488627 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Leukocyto... |
ORPHA:2070 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Seizure, Colpocephaly, Agenesis of corpus callosum, V... |
OMIM:615219 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Tetralogy of Fallot, Abnormal repetitiv... |
ORPHA:3306 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Seizure, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Seizure, Lateral ventricle dilatation, Bradycardia, Decreased CSF glutamine c... |
OMIM:610015 |
Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Thrombocytopenia, Hyperlipidemia, Recurrent infections, Decrea... |
ORPHA:1830 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Seizure, Anorexia |
OMIM:241500 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Seizure |
ORPHA:79284 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Hyperbiliru... |
OMIM:235700 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Ataxia, Hydrocephalus, Dysmetria, Telangiectasia, Seizure, Myoclonus, Cherry red sp... |
ORPHA:93400 |
Cystathioninuria |
|
Tremor, Seizure |
ORPHA:212 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Head titubation, Spastic parapleg... |
OMIM:312080 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... |
ORPHA:3205 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Hy... |
OMIM:557000 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Truncal ataxia, Dysmetria, Progressive spasticity, Dysphagia, Freq... |
OMIM:210000 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Hydrocephalus, Increased circulating gonadotropin level, Seizure, Att... |
ORPHA:8 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Vascular ring, Seizure, Mitral regurgitation, Ventriculomegaly |
OMIM:603387 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... |
OMIM:251260 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Aortic dissection, Ataxia, Cerebral hemorrhage, Hydrocephalus, Noncommunica... |
ORPHA:666 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Self-mutilation of t... |
ORPHA:2388 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Leukopenia, Microangiopathic hem... |
ORPHA:93552 |
Vitamin K Antagonist Embryofetopathy |
|
Seizure, Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Seizure, Patent ductus arteriosus, Abnormal repetitive mannerisms, Ventriculomegaly |
ORPHA:500159 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Seizure, Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Abnormal repetitive mannerisms, Patent ductus arteriosus,... |
ORPHA:435638 |
Dpagt1-Cdg |
|
Prolonged QT interval, Epileptic spasm, Ataxia, Aggressive behavior, Tremor, Focal motor seizure,... |
ORPHA:86309 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure, Stroke-li... |
OMIM:105210 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Seizure, Patent ductus arteriosus, Abnormal repetitive mannerisms, Cerebral hemorrhage |
OMIM:616682 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... |
OMIM:618056 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Hemiplegia/hemiparesis, Intracranial h... |
ORPHA:394 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
Tenorio Syndrome |
|
Cerebral palsy, Raynaud phenomenon, Hydrocephalus, Clumsiness, Seizure, Syncope, Ventriculomegaly |
OMIM:616260 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Hypertension, Aortic root a... |
ORPHA:449291 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Hypertonia, Compulsive behaviors, ... |
OMIM:300986 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Gout, Recurrent bacterial infections, Inflammation of the large int... |
OMIM:232220 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim... |
ORPHA:101 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Tremor, Hydrocephalus, Seizure, Oculomotor apraxia, Agenesis of corpus cal... |
ORPHA:220493 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Seizure, Abnormal repetitive mannerisms |
OMIM:617682 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Interstitial pneumonitis, Recurrent upper respiratory tract infections, Anemia |
OMIM:620296 |
Childhood Disintegrative Disorder |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:168782 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Ab... |
ORPHA:2131 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,... |
ORPHA:268940 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Clonus, Tremor, Clonic seizure, Spastic t... |
OMIM:615574 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Aggressive behavior, Tonic seizure, Self-injurious behavior, Lateral ventricle dil... |
OMIM:620075 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Erythema ... |
OMIM:615688 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal si... |
ORPHA:240071 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Hypertonia, Ataxia |
ORPHA:31 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Hydrocephalus, Seizure, Hypertonia, Hypertrophic cardiomyopathy, Dandy-... |
OMIM:612938 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia, Seborrheic dermatitis |
OMIM:121270 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Decreased circulating antib... |
OMIM:248500 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Seizure, Hydrocephalus, Agenesis of corpus callosum, Tonic seizure |
OMIM:615249 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Recurrent infections, Persistence of hemoglobin F, Anemia, ... |
OMIM:260400 |
Holoprosencephaly 14 |
|
Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Par... |
OMIM:619895 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Seizure, Athetosis, Bruxism, Spasticity, Apraxia, Abnormal re... |
OMIM:613454 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Abnormal cerebrospinal fluid morphology, Babinski sign, Head tremor, Spas... |
ORPHA:314404 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
1Q44 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Bilateral tonic-clonic seizure, Ventriculomegaly |
ORPHA:238769 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Seizure, Myoclonus, In... |
ORPHA:98794 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized... |
OMIM:300672 |
Nephronophthisis 18 |
|
Hypertension, Hydrocephalus |
OMIM:615862 |
Alazami Syndrome |
|
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... |
ORPHA:319671 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Oculogyric crisis, Rig... |
ORPHA:217253 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Focal dystonia, A... |
ORPHA:52368 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus |
OMIM:607876 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Dysphagia |
OMIM:313200 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-banging, Seizure, Atten... |
OMIM:619103 |
X-Linked Intellectual Disability, Wilson Type |
|
Seizure, Lateral ventricle dilatation |
ORPHA:85290 |
Coffin-Siris Syndrome 6 |
|
Seizure, Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Seizure, Attention defici... |
OMIM:619680 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Tremor, Patent ductus arteriosus, Seizure, Self-injurious behavior, Compulsi... |
OMIM:617061 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Recurrent infect... |
OMIM:617052 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... |
ORPHA:457351 |
Malan Overgrowth Syndrome |
|
Episodic ataxia, Seizure, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal ci... |
ORPHA:79277 |
Rift Valley Fever |
|
Skin rash, Thrombocytopenia, Severe viral infection, Hepatitis, Uveitis, Increased circulating Ig... |
ORPHA:319251 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... |
OMIM:602481 |
Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Double outlet right ventric... |
OMIM:220210 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Thrombocytopenia, Peritonitis, Leukocytosis, Elevated circulating ... |
ORPHA:90038 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Hydrocephalus, Hemiparesis, Seiz... |
ORPHA:974 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Niemann-Pick Disease, Type C2 |
|
Dystonia, Ataxia, CNS foam cells, Bone-marrow foam cells, Foam cells, Seizure, Dysphagia, Cataple... |
OMIM:607625 |
Wilson Disease |
|
Splenomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Thrombocytopenia |
ORPHA:905 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
Angelman Syndrome |
|
Hyperactivity, Ataxia, Infantile spasms, Aggressive behavior, Tremor, Tongue thrusting, Polyphagi... |
ORPHA:72 |
Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Lujo Hemorrhagic Fever |
|
Skin rash, Maculopapular exanthema, Elevated circulating C-reactive protein concentration, Myocar... |
ORPHA:319213 |
Joubert Syndrome |
|
Encephalocele, Ataxia, Tremor, Hydrocephalus, Seizure, Oculomotor apraxia |
ORPHA:475 |
22Q11.2 Duplication Syndrome |
|
Seizure, Transposition of the great arteries, Attention deficit hyperactivity disorder, Compulsiv... |
ORPHA:1727 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Seizure, Agenesis of corpus callosum, Attention... |
OMIM:619312 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Hydrocephalus, Pericarditis |
ORPHA:163596 |
Aspergillosis |
|
Intracranial hemorrhage, Seizure, Stroke |
ORPHA:1163 |
Chromosome 5P13 Duplication Syndrome |
|
Abnormal repetitive mannerisms, Seizure, Self-injurious behavior, Compulsive behaviors, Agenesis ... |
OMIM:613174 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
Japanese Encephalitis |
|
Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, Abnormal thal... |
ORPHA:79139 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Increased c... |
OMIM:615846 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Status epilepticus, Dandy-Walker malformation, Gait ataxia |
OMIM:618606 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Seizure, Hypertension, Lower limb hypertonia, Ventriculomegaly |
ORPHA:2169 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in... |
ORPHA:536545 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... |
OMIM:617013 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Dilation of Virchow-Robin spaces, Bilateral tonic-clonic seizure, Tonic seizure, A... |
OMIM:619512 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Partial absence of specific antibody response to ... |
ORPHA:79324 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Prolonged QT interval, Dystonia, Aggressive behavior, Seizure, Hypertonia, Attent... |
OMIM:300352 |
Paganini-Miozzo Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Lateral ventricle dilatation |
OMIM:301025 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Pul... |
ORPHA:1908 |
Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Myocardial infarction, Hydrocephalu... |
ORPHA:54595 |
Joubert Syndrome 3 |
|
Oculomotor apraxia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia |
OMIM:608629 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Bronchiectasis,... |
ORPHA:244 |
Potocki-Lupski Syndrome |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
OMIM:610883 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ray... |
ORPHA:1855 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251100 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Intraventricular hemorrhage, Telangiectasia, Clumsiness, Poo... |
ORPHA:420741 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Hydrocephalus, Dilated cardiomyopathy, Seizure, Tran... |
OMIM:253800 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, I... |
OMIM:619475 |
Hereditary Spherocytosis |
|
Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculopapular exanth... |
ORPHA:822 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscul... |
OMIM:127550 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Paraparesis, Seizure, Lateral ventricle dilatation... |
ORPHA:2822 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth... |
ORPHA:60040 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:616271 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Oculomotor apraxia, Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:160 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Meningitis... |
ORPHA:297 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Clonus, Tremor, Rigidity, Seizure, Hypertension, Hypertonia, Agitation... |
ORPHA:43116 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Focal-onset seizure, Seizure, Status epilepticus, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617802 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Enterocolitis, Ulcerative colitis, Gou... |
ORPHA:79259 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Seizure, Lateral ventricle dilatation, Abnormal temper tantrums, Abn... |
ORPHA:457279 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Keratoconjunctivitis sicca, Anemia, Recurrent infections |
OMIM:620370 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Spastic paraplegia, Abnormal pyramidal sign |
OMIM:256850 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Emanuel Syndrome |
|
Torticollis, Truncus arteriosus, Hydrocephalus, Patent ductus arteriosus, Seizure, Pulmonic steno... |
OMIM:609029 |
Desmosterolosis |
|
Rigidity, Hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Seizure, Hy... |
ORPHA:35107 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Infantile spasms, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hem... |
ORPHA:79282 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Spastic tetraparesis, Portal hypertension, Spastic tetraplegia, Spastic diplegia, S... |
OMIM:619487 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Tetraplegia, Spasticity, Fasciculations, Progre... |
ORPHA:496641 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... |
OMIM:614381 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
Emanuel Syndrome |
|
Truncus arteriosus, Hydrocephalus, Patent ductus arteriosus, Seizure, Pulmonic stenosis, Dysphagi... |
ORPHA:96170 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dystonia |
OMIM:168605 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula... |
ORPHA:505248 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetrapar... |
ORPHA:2203 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
Macrocephaly-Developmental Delay Syndrome |
|
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Aggressive behavior, Seizure, Lateral ventricle dilatation, Left superior vena cava draining to c... |
ORPHA:464738 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... |
OMIM:616393 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Tonic seizure, Seizure, Lateral ventricle dilatation, Hypertonia, D... |
OMIM:618367 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr... |
OMIM:222700 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Seizure, Tetralogy of Fallot, Agenesis o... |
OMIM:612582 |
Oculocerebrocutaneous Syndrome |
|
Hemiplegia/hemiparesis, Hydrocephalus, Seizure, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:1647 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Seizure, Agenesis of corpus callosum, Abnormal repetitive mannerisms |
ORPHA:261144 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... |
ORPHA:447997 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Tuberous Sclerosis Complex |
|
Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impulsivity, Focal-onset s... |
ORPHA:805 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:618775 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Dextrotransposition of the great art... |
OMIM:618619 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia |
ORPHA:935 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head ... |
ORPHA:99027 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia |
OMIM:230900 |
Desmosterolosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Seizure, Total ... |
OMIM:602398 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Hypertonia, Syncope, Myoclonus |
OMIM:614618 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Recurrent infections, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro... |
ORPHA:91348 |
Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
Hydroxykynureninuria |
|
Tachycardia, Hypertonia, Abnormal repetitive mannerisms, Hypotension |
ORPHA:79155 |
Kleefstra Syndrome |
|
Aggressive behavior, Pulmonary artery stenosis, Coarctation of aorta, Seizure, Self-injurious beh... |
ORPHA:261494 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... |
ORPHA:542323 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag... |
ORPHA:99827 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Sepsis, L... |
ORPHA:480520 |
Wolfram Syndrome 1 |
|
Ataxia, Tremor, Stroke-like episode, Seizure, Cardiomyopathy, Dysphagia |
OMIM:222300 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Seizure, Attention deficit hyperactivity disorder, Febrile seizur... |
OMIM:620073 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Tetanus |
|
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Dysphagia, Sp... |
ORPHA:3299 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Chorea, Arterial stenosis, Intracranial hemorr... |
ORPHA:565 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Sep... |
ORPHA:94093 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Large Congenital Melanocytic Nevus |
|
Seizure, Hydrocephalus |
ORPHA:626 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Seizure, Lateral ventricle dilat... |
OMIM:300952 |
Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism, Abnormal aortic morphology, Transposition of the great arteries... |
ORPHA:1926 |
Fg Syndrome Type 1 |
|
Hydrocephalus, Coarctation of aorta, Seizure, Small pituitary gland, Compulsive behaviors, Attent... |
ORPHA:93932 |
Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:606003 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... |
OMIM:615538 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Dandy-Walker malformation |
OMIM:614846 |
B4Galt1-Cdg |
|
Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Tremor, Seizure, Hypertension, Hypotension, Dystonia |
ORPHA:330021 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Bilateral tonic-clonic seizure, Hydrocephalus, Tetraplegia, Seizure, Pulmonic s... |
OMIM:257300 |
Lhermitte-Duclos Disease |
|
Seizure, Hydrocephalus, Ataxia |
ORPHA:65285 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib... |
ORPHA:77261 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, Thrombocy... |
ORPHA:50918 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Seizure, Cerebral hemorrhage |
ORPHA:221061 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Seizure, Hydrocephalus, Hypertonia, Ataxia |
ORPHA:2720 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Seizure, Dandy-Walker malformation, Agenesis of corpus callosum, Peripheral pulmon... |
OMIM:613001 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Seizure, Vocal cord paralysis, Dysphagia |
ORPHA:397744 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Skin rash, Hyperammonemia |
OMIM:253270 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Trem... |
ORPHA:1934 |
Tarp Syndrome |
|
Seizure, Athetosis, Subdural hemorrhage, Tetralogy of Fallot |
OMIM:311900 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Seizure, Colpocephaly, Mitral regurgitation, Dysphagia, Ventriculomegaly |
ORPHA:261250 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Hydrocephalus, L... |
OMIM:612863 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Increased circulating IgA level, ... |
ORPHA:2298 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Dilated car... |
ORPHA:66634 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Seizure, Hydrocephalus, Double outlet right ventricle |
OMIM:614886 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia |
OMIM:168600 |
Multiple Sulfatase Deficiency |
|
Ataxia, Hydrocephalus, Spasticity, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Seizure, Oculomotor apraxia, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617822 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Seizure, Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... |
ORPHA:99901 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hypera... |
ORPHA:476126 |
Smith-Magenis Syndrome |
|
Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive m... |
ORPHA:819 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Congestive he... |
ORPHA:48818 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... |
OMIM:611881 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Hydrocephalus, Ataxia, Ventriculomegaly |
ORPHA:59315 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Seizure, Hydrocephalus, Ataxia |
ORPHA:2318 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Bruising susceptibility, Agenesis of corpus callosum, Prominent superficial veins |
OMIM:612940 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Patent ductus arteriosus, Seizure, Colpocephaly, Pulmona... |
OMIM:620113 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Thrombocytopenia |
ORPHA:96181 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Sepsis, Conjuncti... |
ORPHA:36426 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Hydrocephalus, Hypoplastic aortic arch, Seizure, Agenesis of corpus callosum, Vent... |
ORPHA:457284 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Patent ductus arteriosus, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive ... |
OMIM:619293 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Pica, Seizure, Obsessive-compulsive trait, Abnormal repetitive mannerisms |
OMIM:617796 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculo... |
ORPHA:240094 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia, Recurrent infections |
OMIM:611209 |
Distal Deletion 10Q |
|
Ataxia, Clonus, Aggressive behavior, Patent ductus arteriosus, Poor fine motor coordination, Seiz... |
ORPHA:96148 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:301056 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... |
OMIM:614298 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progr... |
ORPHA:646 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Recurrent infections, ... |
OMIM:620005 |
Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Patent ductus arteriosus, Tongue thrusting, Seizure, Bruxism, Abnormal repet... |
OMIM:606232 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Monosomy 18Q |
|
Left-to-right shunt, Left aortic arch with right descending aorta and right ductus arteriosus, Hy... |
ORPHA:1600 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Blepharospasm, Bradykinesia, Dysphagia |
ORPHA:683 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Seizure, Arteriovenous malformation, Su... |
ORPHA:109 |
Yellow Fever |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul... |
ORPHA:99829 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Seizure, Hypertrophic cardiomyopathy, Status epilepticus, Myoclonus, Dysphagia, R... |
OMIM:607426 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Sepsis, Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thro... |
ORPHA:537 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Seizure, Attention deficit hyperactivity disorder, Inter... |
ORPHA:250989 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Ataxia, Portal hypertension, Tremor, Hydrocephalus, Seizure, Oculomotor ... |
ORPHA:1454 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Seizure, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:899 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Hydrocephalus, Myelomeningoc... |
OMIM:613686 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Patent ductus arteriosus, Slurred speech, Generalized non-motor (... |
OMIM:277590 |
Trisomy 1Q |
|
Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:261344 |
Lowry-Maclean Syndrome |
|
Hemiparesis, Seizure, Hydrocephalus, Coarctation of aorta |
ORPHA:2409 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Leukopenia, Malar ra... |
ORPHA:536 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Slc35A2-Cdg |
|
Spastic tetraparesis, Infantile spasms, Seizure, Lateral ventricle dilatation, Tetralogy of Fallo... |
ORPHA:356961 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Patent ductus arteriosus, Increased CSF lactate, Seizure, Hypertonia, B... |
OMIM:617248 |
Hydrolethalus |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Dystonia |
OMIM:614105 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Aggressive behavior, Hydrocephalus, Patent ductus arteriosus, Polyp... |
ORPHA:96121 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non-motor (absence) s... |
ORPHA:513456 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Kinsship Syndrome |
|
Ventriculomegaly, Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Gene... |
OMIM:619297 |
Peho Syndrome |
|
Seizure, Hydrocephalus, Ventriculomegaly, Infantile spasms |
ORPHA:2836 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Retinal telangiectasia |
OMIM:620157 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Hypertonia, Abnormal repetitive mannerisms, Self-mutilation, ... |
OMIM:123450 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thro... |
ORPHA:525731 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Stroke-like episode, Hematochezia, Seizure |
ORPHA:79095 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Pneumonia, Anemia |
OMIM:603467 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Tetrasomy 5P |
|
Congestive heart failure, Hydrocephalus, Heart murmur, Seizure, Pulmonary arterial hypertension |
ORPHA:3309 |
Cogan Syndrome |
|
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... |
ORPHA:1467 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... |
ORPHA:501 |
Nelson Syndrome |
|
Pituitary corticotropic cell adenoma, Adrenocorticotropic hormone excess, Intracranial hemorrhage... |
ORPHA:199244 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp... |
ORPHA:268810 |
Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca |
ORPHA:182 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Incoordination, Ataxia, Slurred speech, In... |
ORPHA:90062 |
Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Giant cell hepatitis, Thrombocytopenia |
OMIM:208085 |
Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia |
ORPHA:2119 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... |
OMIM:615474 |
Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Bilateral tonic-clonic seizure with generalized onset, Paralysi... |
ORPHA:2072 |
Pitt-Hopkins Syndrome |
|
Incoordination, Gait ataxia, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Ve... |
OMIM:610954 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Abnormality of circulating enzyme ... |
ORPHA:93598 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Clumsiness, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
OMIM:615656 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Seizure, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:613150 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Ataxia, Spastic paraplegia, Decreased thalamic volume, Seizure, Hype... |
ORPHA:168577 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Interrupted aorti... |
ORPHA:163979 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Dandy-Walker malformation, Meningocele, Colpocephaly, Lateral ventricle ... |
ORPHA:397715 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... |
ORPHA:522077 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Junctional ectopic tachycardia, Hydrocephalus, Seizure, Colpocephaly, Histiocyt... |
OMIM:309801 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:613990 |
Bainbridge-Ropers Syndrome |
|
Seizure, Lateral ventricle dilatation, Self-injurious behavior, Hypertonia, Recurrent hand flappi... |
OMIM:615485 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Seizure, Hydrocephalus, Spasticity |
OMIM:618590 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, A... |
OMIM:234200 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Patent duct... |
ORPHA:177907 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait... |
OMIM:606002 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Hypertonia, Subdural hemorrhage, Aggressive behavior |
OMIM:619714 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Seizure, Spasti... |
OMIM:615287 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Hyperactivity, Ataxia, Aggressive behavior, Hypersexuality, Hydrocephalus, Ab... |
ORPHA:581 |
Farber Disease |
|
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Anemia, Arthritis, Thrombocytop... |
ORPHA:333 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Hydrocephalus, Seizure, Focal impaired awareness seizure, Pulmonary art... |
OMIM:616482 |
3C Syndrome |
|
Hydrocephalus, Tetralogy of Fallot, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malfor... |
ORPHA:7 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Thyroiditis... |
ORPHA:171 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Seizure, Oculomotor apraxia |
OMIM:608091 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilia, Eczema, Cholangitis, Eosinophilia, Thrombocyt... |
ORPHA:3260 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Dystonia, Spasticity |
ORPHA:2828 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
Gaucher Disease |
|
Abnormal bleeding, Bilateral tonic-clonic seizure, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydroc... |
ORPHA:355 |
Gaucher Disease, Type Iiic |
|
Seizure, Hydrocephalus, Mitral stenosis, Calcification of the aorta |
OMIM:231005 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju... |
ORPHA:464329 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Paraparesis, CSF pleocytosis, Babinski sign, Pa... |
ORPHA:139417 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Gait ataxia, Incoordination, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST segment e... |
OMIM:261740 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Trisomy 17P |
|
Patent ductus arteriosus, Hydrocephalus, Hypertonia, Aortic valve stenosis |
ORPHA:261290 |
Kleefstra Syndrome 1 |
|
Aggressive behavior, Conotruncal defect, Seizure, Compulsive behaviors, Abnormal repetitive manne... |
OMIM:610253 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Reduced haptoglobin level, Anemia of inadequate production, Congenital hypopla... |
OMIM:105600 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Heart block, Hydrocephalus, Seizure, Cardiomyopathy, Arrhythmia, Agenesis of corpus callosum, Ven... |
ORPHA:228308 |
Transketolase Deficiency |
|
Abnormal coronary artery course, Patent ductus arteriosus, Self-injurious behavior, Attention def... |
ORPHA:488618 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Seizure, Hydrocephalus, Athetosis |
OMIM:239300 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Recurrent otitis media, Thrombocytopenia, Anemia |
ORPHA:261323 |
Gracile Bone Dysplasia |
|
Seizure, Hydrocephalus |
OMIM:602361 |
Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Coarctation of a... |
OMIM:617260 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Seizure, Cardiomyopathy, Arrhythmia, Agenesis of corpus callosum |
ORPHA:157 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Abnormal pyramidal sign, Portal hypertension |
ORPHA:213 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dy... |
OMIM:615530 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Mogs-Cdg |
|
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal pyramidal sign, Lobar holoprosencephaly, Seizure, Self-injurious behavior, Hypertonia, H... |
ORPHA:468631 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Tongue thrusting, Seizure, Hypertonia, Pulmonic stenosis, Oculomotor apraxia, Hype... |
OMIM:115150 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal... |
OMIM:614947 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen... |
OMIM:277900 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly, Coarctation of aorta |
OMIM:300514 |
Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Chilblains, Thrombocytopenia |
OMIM:225750 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Tremor, Lateral ventricle dilatation, Attention deficit hyper... |
OMIM:617557 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... |
ORPHA:647 |
Aicardi Syndrome |
|
Epileptic spasm, Infantile spasms, Spina bifida, Partial agenesis of the corpus callosum, Choroid... |
OMIM:304050 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Seizure, Decerebrate rigidity, Progressive spasticity, Dystonia, ... |
ORPHA:512 |
Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Hydrocephalus, Seizure, Aortic valve stenosis, Dandy-Walker m... |
ORPHA:401973 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Semilobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Decreased response to growth hormone stimulation ... |
ORPHA:93924 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume, Recurrent infections |
OMIM:616737 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Patent ductus arteriosus, Dilated cardiomyopathy,... |
OMIM:610505 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test |
OMIM:609053 |
Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Retinal hemorrhage, Premature coronary artery atherosclerosis, Seizure, Card... |
ORPHA:90324 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Seizure, Hypertonia, Abnormal repetitive mannerisms, Self-mutilation, Stereo... |
OMIM:212066 |
2Q37 Microdeletion Syndrome |
|
Seizure, Abnormal aortic morphology, Attention deficit hyperactivity disorder, Compulsive behavio... |
ORPHA:1001 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Patent ductus arteriosus, Hypoglycemic seizures, Self-injurio... |
OMIM:616364 |
Multiple Sulfatase Deficiency |
|
Seizure, Hydrocephalus |
ORPHA:585 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Persistent left superior vena cava, Transposition of the great arteries |
OMIM:314390 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Seizure, Ataxia, Cardiomyopathy |
OMIM:616084 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Coarctation of aorta, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:264480 |
White-Sutton Syndrome |
|
Hyperactivity, Incoordination, Aggressive behavior, Seizure, Self-injurious behavior, Focal impai... |
ORPHA:468678 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus, Dilation of Virchow-Robin spaces |
OMIM:619951 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Diaphragmatic para... |
OMIM:232300 |
Rabin-Pappas Syndrome |
|
Seizure, Hydrocephalus, Retinal telangiectasia |
OMIM:620155 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
Crouzon Syndrome |
|
Seizure, Hydrocephalus |
OMIM:123500 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemiparesis, Raynaud phenomenon, A... |
ORPHA:51 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... |
OMIM:610828 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Seizure, Hydrocephalus |
ORPHA:93259 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Hydrocephalus, Seizure, Mitral regurgitation, Pulmonary arterial hyperte... |
ORPHA:314585 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Hydrocephalus, Ataxia, Spasticity |
ORPHA:220295 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:251290 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Venous insufficiency, Hydrocephalus |
ORPHA:2969 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Tonic seizure, Abnormal rep... |
OMIM:615873 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Megalocornea-Intellectual Disability Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Patent ductus arteriosus, Seizure, Hydrocephalus, Bruising susceptibility |
OMIM:618162 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Holoprosencephaly 13, X-Linked |
|
Alobar holoprosencephaly, Patent ductus arteriosus, Seizure, Colpocephaly, Double outlet right ve... |
OMIM:301043 |
Czeizel-Losonci Syndrome |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida |
ORPHA:2437 |
Mend Syndrome |
|
Hyperactivity, Hydrocephalus, Seizure, Hypertonia, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:300960 |
Opitz-Kaveggia Syndrome |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Seizure, Attention deficit hyperactivity ... |
OMIM:305450 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Chorea, Spasticity, Spinal dysraphism, Seizure, Abnormal aortic mor... |
ORPHA:2162 |
Dubowitz Syndrome |
|
Eczema, Abnormality of neutrophils, Recurrent infections, Acute lymphoblastic leukemia, Anemia, T... |
ORPHA:235 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Colpocephaly, Hypertonia... |
OMIM:618460 |
Monosomy 9Q22.3 |
|
Hyperactivity, Seizure, Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Simple febrile seizure, Patent ductus arteriosus, Seizure, Posterior pituit... |
ORPHA:464311 |
Scorpion Envenomation |
|
Bundle branch block, Tremor, Prominent U wave, Hemifacial spasm, Ataxia, Seizure, Myoclonus, ST s... |
ORPHA:466677 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,... |
OMIM:614643 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Hypertension, Aortic root aneurysm, Bruising suscep... |
OMIM:616914 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Sever... |
ORPHA:699 |
Cog5-Cdg |
|
Seizure, Lateral ventricle dilatation, Truncal ataxia |
ORPHA:263487 |
Mucopolysaccharidosis, Type Ii |
|
Seizure, Hydrocephalus, Congestive heart failure |
OMIM:309900 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased heart rate variability, Seizure, Extra-axial cerebrospinal fluid accumulation, Attentio... |
OMIM:619005 |
Dyskeratosis Congenita |
|
Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Per... |
ORPHA:1775 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotruncal defect, Abn... |
ORPHA:2306 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Hypocalcemic seizures, Lateral ventricle dilatation |
OMIM:612301 |
Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608013 |
Apert Syndrome |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Seizure, Dandy-Walker malformation,... |
OMIM:236670 |
Hurler Syndrome |
|
Cerebral palsy, Angina pectoris, Hydrocephalus, Abnormal pyramidal sign, Cardiomyopathy, Hyperten... |
ORPHA:93473 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Pulmonary artery stenosis, Unilateral vocal cord paralysis, Seizure, Attention defic... |
OMIM:301030 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Focal myoclonic seizure, Opisthotonus, Seizure, Hypertonia, Abnormal r... |
ORPHA:508533 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Poor motor coordination, Decreased response to growth hormone stimulation test, Ag... |
OMIM:613406 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Sepsis, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concent... |
OMIM:619991 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Dandy-Walker malformation |
ORPHA:314588 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Generalized-onset seizure, Tricuspid regurgitation, Heart murmur, Seizure, ... |
OMIM:614866 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Seizure, Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hydrocephal... |
OMIM:610829 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Frequent falls, Normal pressure hydrocephalus, Bradycardia |
OMIM:620351 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... |
ORPHA:2785 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Splenomegaly, Conjunctivitis, Elevated circulating uroporphyrin concentration, ... |
OMIM:263700 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Dextrocardia |
|
Abnormal EKG, Hydrocephalus, T-wave inversion, Congenital malformation of the great arteries |
ORPHA:1666 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hyperactivity, Impulsivity, Aggressive behavior, Peripheral arterial... |
ORPHA:580 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hyperactivity, Anterior pituitary hypoplasia, Patent ductus arteriosus, Sei... |
ORPHA:464306 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries |
OMIM:313850 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Agenesis of corpus callosum, Transposition of t... |
ORPHA:1780 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Hydrocephalus, Seizure, Cardiomyopathy, Mitral regurgitation, Cervical m... |
OMIM:253200 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
Keppen-Lubinsky Syndrome |
|
Spastic tetraparesis, Opisthotonus, Seizure, Lateral ventricle dilatation, Hypertonia, Febrile se... |
OMIM:614098 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Thoracic aortic aneurysm, Hydrocephalus, Seizure, Aortic root aneurysm, Ascending tu... |
ORPHA:536467 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Tetralogy of Fallot, Anencephaly |
ORPHA:1335 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Lateral ventricle dilatation, Pulmonic stenosis, Hypertrophic cardiomyopath... |
OMIM:619745 |
Leptospirosis |
|
Pericarditis, Skin rash, Hepatitis, Uveitis, Hyperproteinemia, Optic neuritis, Meningitis, Thromb... |
ORPHA:509 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Meningocele, Aortic aneurysm |
OMIM:130720 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi... |
ORPHA:79078 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus |
ORPHA:1834 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... |
OMIM:301044 |
Knobloch Syndrome |
|
Patent ductus arteriosus, Seizure, Hydrocephalus, Occipital encephalocele |
ORPHA:1571 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydroc... |
OMIM:620305 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Hemiparesis, Seizure, Dysphagia |
ORPHA:637 |
Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Aggressive behavior, Hydrocephalus, Partial agenesis of the corpus callosum, Paten... |
OMIM:270400 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Seizure, Dandy-Walker malformation, Ventriculomegaly |
OMIM:605627 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum, Coarctation of aorta |
ORPHA:268249 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Seborrheic dermatitis, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Decrease... |
OMIM:274000 |
Chromosome 17P13.1 Deletion Syndrome |
|
Ankle clonus, Hydrocephalus, Spina bifida |
OMIM:613776 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized myoclonic... |
OMIM:614756 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Seizure, Colpocephaly, Ataxia, Dystonia |
OMIM:620083 |
Alport Syndrome 1, X-Linked |
|
Nephritis, Thrombocytopenia |
OMIM:301050 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus |
ORPHA:1865 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Coccidioidomycosis |
|
Pericarditis, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Seizure, ... |
ORPHA:228123 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Hydrocephalus |
ORPHA:1555 |
Orofaciodigital Syndrome I |
|
Hydrocephalus, Myelomeningocele, Seizure, Hypertension, Hypothalamic hamartoma, Agenesis of corpu... |
OMIM:311200 |
Genitopalatocardiac Syndrome |
|
Hydrocephalus |
ORPHA:2075 |
Aymé-Gripp Syndrome |
|
Pericarditis, Patent ductus arteriosus, Hydrocephalus, Seizure, Febrile seizure (within the age r... |
ORPHA:1272 |
Mucopolysaccharidosis Type 1 |
|
Hemiplegia/hemiparesis, Hydrocephalus, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:579 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... |
ORPHA:740 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Spasticity |
OMIM:301040 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Patent ductus arteriosus, Stroke, Ventriculomegaly |
OMIM:618188 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Seizure, Hypertension, Renal artery stenosis |
OMIM:162200 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Hydrocephalus, Heart murmur, Seizure, Tetralogy of Fallot, ... |
ORPHA:264450 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Anemia |
OMIM:620185 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Hydrocephalus, Mitral regurgitation |
OMIM:607014 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Anemia |
OMIM:612199 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Seizur... |
ORPHA:319182 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Telangiectasia of the skin, Decreased response to growth hormone stimulation test |
OMIM:616007 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Cholangitis, Hypersplenism, Splenomegaly, Recur... |
ORPHA:731 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Hydrocephalus |
OMIM:104350 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Cheilitis, Anemia, Arthritis, Hypo... |
ORPHA:534 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Double out... |
OMIM:306955 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Spina bifida, Abnormal repetitive mannerisms, Coarctation of aorta, Truncus... |
ORPHA:508498 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling, Polyphagia, Gener... |
OMIM:620330 |
Apert Syndrome |
|
Hydrocephalus, Overriding aorta, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:101200 |
H Syndrome |
|
Varicose veins, Hydrocephalus, Abnormal cardiovascular system physiology, Facial telangiectasia |
ORPHA:168569 |
Osteopathia Striata With Cranial Sclerosis |
|
Patent ductus arteriosus, Hydrocephalus, Partial agenesis of the corpus callosum, Seizure, Spina ... |
OMIM:300373 |
Marshall-Smith Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Premature ventricular contraction, Hypertension, Hyperto... |
OMIM:602535 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Epileptic spasm, Infantile spasms, Aggressive behavior, Hydrocephal... |
OMIM:607872 |
Sarcoidosis |
|
Hemolytic anemia, Maculopapular exanthema, Hypercalcemia, Eosinophilia, Erythema nodosum, Thrombo... |
ORPHA:797 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Cardiac c... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Cardiac c... |
ORPHA:353277 |
Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Torticollis, Generalized-onset seizure, Bilateral tonic-clo... |
OMIM:300855 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Spina bifida, Retinal arteriolar tortuosity, Hydrocephalus, Patent d... |
ORPHA:567 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia, Conjunctivitis, Blepharitis, ... |
OMIM:305000 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:616546 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Seizure, Ventriculomegaly, Gait ataxia |
OMIM:617011 |
Stromme Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:243605 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus, Hydrocephalus, Seizure, Attention deficit hype... |
ORPHA:261337 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Seizure, Dysphagia, Abnormal repe... |
OMIM:617330 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Hydrocephalus |
OMIM:253220 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume, Recurrent infections |
ORPHA:487796 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hemiplegia/hemiparesis, Patent ductus arteriosus, Dilated cardiomyopathy, P... |
ORPHA:1606 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Anemia, Recurrent otit... |
OMIM:619525 |
Digeorge Syndrome |
|
Acne, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Recurrent infec... |
OMIM:188400 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Thrombocytopenia |
OMIM:147791 |
Loeys-Dietz Syndrome 1 |
|
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Hydrocephalus,... |
OMIM:609192 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper... |
ORPHA:77293 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Anterior pituitary hypoplasia, Epistaxis, Aggressive behavior, Paten... |
OMIM:619841 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Pulmonary artery stenosis, Hydrocephalus, Pulmonary arterial hypertension, Bruising susce... |
ORPHA:667 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Seizure, Hydrocephalus, Pulmonary lymphangiomyomatosis |
ORPHA:538 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Poor coordination, Spastic diplegia, Seizure, Abnormal repetitive mannerisms, Vent... |
OMIM:309590 |
Hardikar Syndrome |
|
Recurrent urinary tract infections, Cholangitis, Hypersplenism, Splenomegaly, Hepatosplenomegaly,... |
OMIM:301068 |
Short-Rib Thoracic Dysplasia 12 |
|
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... |
ORPHA:2273 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Attention deficit hyperactivity diso... |
OMIM:618820 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Oculomotor apraxia, Colpocephaly, Lower limb hypertonia, Clonus |
ORPHA:477993 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Abnormal central motor function, Involuntary movements, Aggressive be... |
ORPHA:3385 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Pat... |
OMIM:610168 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Hydrocephalus, Aortic root aneurysm |
OMIM:245600 |
Meckel Syndrome, Type 1 |
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Dilated fourth ventricle, Occipital encephalocele, Vascular dilatation, Hydrocephalus, Patent duc... |
OMIM:249000 |
Cardiofaciocutaneous Syndrome |
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Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:1340 |
Vacterl With Hydrocephalus |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Fanconi Anemia |
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Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Thrombocytopenia,... |
ORPHA:84 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Hydrocephalus, Decreased growth hormone responses to growth hormone-releasing hormone challenge |
OMIM:101800 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Hydrocephalus, Aortic aneurysm |
OMIM:182212 |
Cockayne Syndrome A |
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Ataxia, Tremor, Seizure, Hypertension, Normal pressure hydrocephalus, Arrhythmia, Persistent left... |
OMIM:216400 |
Neurofibromatosis Type 1 |
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Ataxia, Hydrocephalus, Arterial stenosis, Seizure, Hypertension, Attention deficit hyperactivity ... |
ORPHA:636 |
Laurin-Sandrow Syndrome |
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Hydrocephalus |
ORPHA:2378 |
Cornelia De Lange Syndrome 1 |
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Thrombocytopenia, Pneumonia, Otitis media |
OMIM:122470 |
Kabuki Syndrome |
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Seizure, Hydrocephalus, Ventriculomegaly, Coarctation of aorta |
ORPHA:2322 |
Fanconi Anemia, Complementation Group L |
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Hydrocephalus, Attention deficit hyperactivity disorder |
OMIM:614083 |
Cole-Carpenter Syndrome |
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Communicating hydrocephalus |
ORPHA:2050 |
Marden-Walker Syndrome |
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Hydrocephalus, Agenesis of corpus callosum, Attention deficit hyperactivity disorder |
ORPHA:2461 |
Jacobsen Syndrome |
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Recurrent respiratory infections, Eczema, Thrombocytopenia |
ORPHA:2308 |
Osteootohepatoenteric Syndrome |
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Hydrocephalus |
OMIM:619377 |
Achondroplasia |
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Hydrocephalus |
OMIM:100800 |
6Q Terminal Deletion Syndrome |
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Seizure, Colpocephaly, Dysmetria, Gait ataxia |
ORPHA:75857 |
Fibular Hemimelia |
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Thrombocytopenia |
ORPHA:93323 |
Supranuclear Palsy, Progressive, 1 |
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Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Retrocol... |
OMIM:601104 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hydrocephalus, Partial agenesis of the corpus callosum, Coarctation of aorta, Seizure, Lateral ve... |
OMIM:210710 |
Ciliary Dyskinesia, Primary, 1 |
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Communicating hydrocephalus |
OMIM:244400 |
Mohr Syndrome |
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Hydrocephalus |
OMIM:252100 |
Viss Syndrome |
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Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, L... |
OMIM:619472 |
Microphthalmia With Linear Skin Defects Syndrome |
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Tricuspid regurgitation, Hydrocephalus, Dilated cardiomyopathy, Seizure, Mitral regurgitation, St... |
ORPHA:2556 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hydrocephalus, Seizure, Myoclonus, Spasticity, Ventriculomegaly |
OMIM:253280 |
Loeys-Dietz Syndrome 3 |
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Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... |
OMIM:613795 |
Otopalatodigital Syndrome Type 2 |
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Encephalocele, Hydrocephalus, Myelomeningocele |
ORPHA:90652 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Seizure, Multifocal seizures, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:301066 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Abscess, Recurrent Staphylococcus aureus infections, Septic arthritis, ... |
ORPHA:642 |
Cousin Syndrome |
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Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Cryptococcosis |
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Seizure, Hydrocephalus |
ORPHA:1546 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Bilateral tonic-clonic seizure, Ventriculomegaly, Gait ataxia |
ORPHA:457359 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Aortic regurgitation, Bilateral tonic-clonic seizure, Tremor, Patent ductus arteriosus, Generaliz... |
OMIM:612474 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Lower limb dysmetria, Hydrocephalus, Seizure, Mitral regurgitation, Pulmonic stenosis, Attention ... |
ORPHA:363700 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... |
ORPHA:353281 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly |
OMIM:619479 |
Tetrasomy 9P |
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Hyperactivity, Juxtaductal coarctation of the aorta, Pericarditis, Raynaud phenomenon, Hydrocepha... |
ORPHA:3310 |
Deeah Syndrome |
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Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Wolf-Hirschhorn Syndrome |
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Abnormal repetitive mannerisms, Hydrocephalus, Seizure, Agenesis of corpus callosum, Ventriculome... |
OMIM:194190 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Lower limb spasticity, Patent ductus arteriosus, Lateral ventricle dilatation, Upper limb spastic... |
OMIM:300868 |
Orofaciodigital Syndrome Type 14 |
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Dilated fourth ventricle, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Dila... |
ORPHA:434179 |
Kabuki Syndrome 1 |
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Bilateral tonic-clonic seizure with focal onset, Hydrocephalus, Coarctation of aorta, Seizure, La... |
OMIM:147920 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
Cockayne Syndrome B |
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Ataxia, Tremor, Seizure, Hypertension, Normal pressure hydrocephalus, Arrhythmia |
OMIM:133540 |
Shprintzen-Goldberg Syndrome |
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Communicating hydrocephalus, Mitral regurgitation, Ventriculomegaly |
ORPHA:2462 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Aortic regurgitation, Ataxia, Spastic paraplegia, Clumsiness, Mitral... |
ORPHA:309282 |
Fraser Syndrome 3 |
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Hydrocephalus |
OMIM:617667 |
Acrofacial Dysostosis 1, Nager Type |
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Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:154400 |
Raine Syndrome |
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Hydrocephalus |
OMIM:259775 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Generalized-onset seizure, Transient ischemic attack, Dysplastic corpus callosum, Patent ductus a... |
ORPHA:500150 |
Wiedemann-Rautenstrauch Syndrome |
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Prominent scalp veins, Ataxia, Decreased response to growth hormone stimulation test, Action trem... |
ORPHA:3455 |
Basal Cell Nevus Syndrome 1 |
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Hydrocephalus, Spina bifida |
OMIM:109400 |
Wiedemann-Rautenstrauch Syndrome |
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Prominent scalp veins, Hydrocephalus, Dysphagia, Hypertonia, Truncal ataxia, Agenesis of corpus c... |
OMIM:264090 |
Hypoplasminogenemia |
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Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Left-to-right shunt, ... |
OMIM:619534 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Hypertension, Hydrocephalus, Elevated circulating follicle stimulating hormone level, Elevated ci... |
ORPHA:95699 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Abnormal repetitive mannerisms, Arteria lusoria, Heart murmur |
OMIM:618653 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Lowe Oculocerebrorenal Syndrome |
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Seizure, Abnormal repetitive mannerisms, Ventriculomegaly, Aggressive behavior |
OMIM:309000 |
Hajdu-Cheney Syndrome |
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Patent ductus arteriosus, Hydrocephalus, Mitral stenosis, Aortic valve stenosis |
ORPHA:955 |
Arboleda-Tham Syndrome |
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Patent ductus arteriosus, Dysphagia, Seizure, Lower limb hypertonia, Pulmonic stenosis, Dystonia,... |
OMIM:616268 |
Neurocardiofaciodigital Syndrome |
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Dilated fourth ventricle, Lateral ventricle dilatation, Tetralogy of Fallot, Patent ductus arteri... |
OMIM:619869 |
Coffin-Siris Syndrome 12 |
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Noncommunicating hydrocephalus, Heart murmur, Seizure, Tetralogy of Fallot, Abnormal repetitive m... |
OMIM:619325 |
Meckel Syndrome |
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Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
Hajdu-Cheney Syndrome |
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Patent ductus arteriosus, Hydrocephalus |
OMIM:102500 |
Congenital Disorder Of Glycosylation, Type Iim |
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Seizure, Epileptic spasm, Hypertension, Lateral ventricle dilatation |
OMIM:300896 |
Lenz-Majewski Hyperostotic Dwarfism |
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Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2658 |
Campomelic Dysplasia |
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Seizure, Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Costello Syndrome |
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Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia, Lymphangiectasis, Vent... |
OMIM:218040 |
Yunis-Varon Syndrome |
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Hydrocephalus, Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Pu... |
ORPHA:3472 |
Limb Body Wall Complex |
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Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Lateral ventricle dilatation, Tricuspid regurgitation |
OMIM:263520 |
Microphthalmia With Limb Anomalies |
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Venous insufficiency, Hydrocephalus |
ORPHA:1106 |
Primrose Syndrome |
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Restlessness, Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Tics, Attention defi... |
OMIM:259050 |
Roberts Syndrome |
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Thrombocytopenia |
ORPHA:3103 |
Pmm2-Cdg |
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Pericarditis, Ataxia, Abnormality of coordination, Elevated circulating growth hormone concentrat... |
ORPHA:79318 |
Fontaine Progeroid Syndrome |
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Prominent superficial veins, Tricuspid regurgitation, Hydrocephalus, Patent ductus arteriosus, Pu... |
OMIM:612289 |
Fraser Syndrome 1 |
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Encephalocele, Seizure, Hydrocephalus, Myelomeningocele |
OMIM:219000 |
Norrie Disease |
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Clonus, Venous insufficiency, Seizure, Self-injurious behavior, Hypertonia, Attention deficit hyp... |
ORPHA:649 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Seizure, Hydrocephalus |
ORPHA:3042 |
Split Cord Malformation |
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Paraparesis, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele, Cervical spina b... |
ORPHA:573278 |
Baller-Gerold Syndrome |
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Seizure, Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum |
OMIM:218600 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Pulmonary artery sling, Focal-onset seizure, Dysphagia, Coarctation of aorta, Poor fine motor coo... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Ataxia, Pulmonary artery sling, Focal-onset seizure, Patent ductus arteriosus, Dysphagia, Coarcta... |
ORPHA:2152 |
Pseudoaminopterin Syndrome |
|
Hydrocephalus |
ORPHA:221120 |
Peters Plus Syndrome |
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Patent ductus arteriosus, Hydrocephalus, Abnormal pulmonary vein morphology, Pulmonic stenosis, A... |
ORPHA:709 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Patent ductus arteriosus, Seizure, Attention deficit hyperactivity ... |
OMIM:619522 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Pulmonary artery sling, Focal-onset seizure, Patent ductus arteriosus, Hyphema, Dysphagia, Coarct... |
ORPHA:261552 |
Peters-Plus Syndrome |
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Patent ductus arteriosus, Hydrocephalus, Seizure, Pulmonic stenosis, Agenesis of corpus callosum,... |
OMIM:261540 |
Focal Dermal Hypoplasia |
|
Hydrocephalus, Myelomeningocele, Telangiectasia, Spina bifida occulta, Agenesis of corpus callosum |
OMIM:305600 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
Noonan Syndrome 1 |
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Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis |
OMIM:163950 |
Oeis Complex |
|
Hydrocephalus, Myelomeningocele |
OMIM:258040 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus |
OMIM:619321 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary venous return,... |
OMIM:312870 |
Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus |
OMIM:208150 |
Genitopatellar Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Dysphagia |
OMIM:606170 |
Hydrolethalus Syndrome 1 |
|
Anencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Severe hydrocephalus |
OMIM:236680 |
Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Dilatation of the sinus of Valsalva, Spina bifida |
OMIM:304120 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Tetralogy of Fallot, Holoprosencephaly |
OMIM:107480 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Right aor... |
OMIM:164210 |
Roberts-Sc Phocomelia Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele |
OMIM:268300 |