Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... |
ORPHA:98807 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Disseminated cryptosporidium infe... |
OMIM:614372 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy... |
ORPHA:251282 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... |
ORPHA:240103 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
Huntington Disease-Like 2 |
|
Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Aggressive behavior, Bruxism, Spasticity |
ORPHA:356996 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... |
OMIM:619150 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy, Anorexia, Weight loss |
ORPHA:52416 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Huntington Disease-Like 1 |
|
Restlessness, Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred spe... |
ORPHA:157941 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Focal dy... |
ORPHA:216873 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors |
OMIM:159900 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... |
OMIM:614063 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... |
ORPHA:210571 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... |
OMIM:613501 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... |
ORPHA:399 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
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 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pure red cell aplasia, Recurrent viral infections, Tremor, Otitis media, Ataxia, Autoi... |
OMIM:613179 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia,... |
OMIM:618093 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior |
OMIM:617171 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Obesity, Arthritis, Recur... |
OMIM:300310 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia |
OMIM:620270 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... |
ORPHA:157946 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dy... |
OMIM:615924 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia |
OMIM:128235 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... |
OMIM:617820 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node ge... |
OMIM:608184 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... |
OMIM:619470 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... |
OMIM:240500 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, H... |
OMIM:617435 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... |
OMIM:616269 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Ataxia, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Spasticity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... |
OMIM:607594 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, In... |
OMIM:302500 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... |
OMIM:615978 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
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 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... |
OMIM:600795 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... |
OMIM:613500 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking |
OMIM:615048 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movement... |
ORPHA:454887 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Frequent falls, Incoordination, Ataxia |
ORPHA:79136 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Falls, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
Epilepsy, Progressive Myoclonic, 1B |
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Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
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Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... |
OMIM:613670 |
X-Linked Non Progressive Cerebellar Ataxia |
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Action tremor, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cereb... |
ORPHA:314978 |
Dystonia 28, Childhood-Onset |
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Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Spinocerebellar Ataxia 38 |
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Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Parkinson Disease 22, Autosomal Dominant |
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Resting tremor, Restless legs, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favora... |
OMIM:616710 |
Idiopathic Achalasia |
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Weight loss, Recurrent aspiration pneumonia, Dysphagia |
ORPHA:930 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Parkinsonism, Tremor, Babinski sign, Oromandibular dystonia, Scissor gait, Bradykinesia, Ankle cl... |
ORPHA:521406 |
Immunodeficiency, Common Variable, 3 |
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Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
Reticular Dysgenesis |
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Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Weight loss, Leu... |
ORPHA:33355 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
X-Linked Dystonia-Parkinsonism |
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Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
Complement Factor B Deficiency |
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Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Aicardi-Goutieres Syndrome 6 |
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Hemolytic anemia, Hepatomegaly, Chilblains, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of amb... |
OMIM:615010 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent respiratory infections, Lymphadenopathy, Recurrent bacterial infections, Recurrent uppe... |
OMIM:605258 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... |
OMIM:245348 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymi... |
OMIM:608106 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi... |
OMIM:168605 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myocl... |
ORPHA:2590 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Dysphagia, Up... |
ORPHA:276435 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia |
OMIM:617830 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Recurrent infections, Truncal ataxia, Action tremor |
ORPHA:210128 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... |
OMIM:619028 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... |
OMIM:618718 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Limb dystonia, C... |
ORPHA:71517 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Pontocerebellar Hypoplasia, Type 11 |
|
Recurrent respiratory infections, Broad-based gait, Ataxia, Inability to walk, Poor coordination,... |
OMIM:617695 |
Atypical Rett Syndrome |
|
Restrictive behavior, Involuntary movements, Tremor, Inability to walk, Tongue thrusting, Limb my... |
ORPHA:3095 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig... |
OMIM:137440 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
Foxg1 Syndrome |
|
Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walkin... |
ORPHA:561854 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... |
ORPHA:93958 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Anorexia, Weight loss |
ORPHA:2023 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjunctivitis, ... |
OMIM:612692 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Falls,... |
OMIM:300423 |
Pfapa Syndrome |
|
Hepatomegaly, Recurrent pharyngitis, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infec... |
ORPHA:42642 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc... |
ORPHA:216866 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:86893 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... |
ORPHA:47612 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Weight loss, He... |
OMIM:209950 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Hyperactivity, Lower limb spasticity, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... |
ORPHA:275864 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... |
ORPHA:240085 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia |
OMIM:618951 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Blephar... |
OMIM:606159 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
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 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Ataxia, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marro... |
ORPHA:391 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Sple... |
OMIM:603554 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Ataxia, Clonus, Cachexia, Parkinsonism, Head titubation, I... |
ORPHA:300605 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Br... |
OMIM:261640 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity |
OMIM:300983 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Difficulty walking, Dystonia, Spast... |
ORPHA:280763 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Severe varicella zoster infection, Splenomegaly, Rec... |
OMIM:615122 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... |
OMIM:612840 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Dystonia, Loss of ambulation |
OMIM:617916 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Neutropenia, Meningitis, Hemolytic anemia, Hepatomegaly, Hepatitis, Chronic hepatitis, Ch... |
OMIM:308230 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Recurrent mycobacterial in... |
ORPHA:169090 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo... |
OMIM:619738 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Hand tremor, Gait ataxia, Gait disturbance, D... |
ORPHA:98764 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Recurrent respiratory infections, Tremor, Tongue fasciculations, Difficulty walking, Dysphagia, M... |
OMIM:159950 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... |
OMIM:616719 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia |
OMIM:615282 |
Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Neutro... |
ORPHA:443811 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Psoriasiform dermatitis, Failure to thrive in... |
OMIM:606367 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Invasive fungal infection, Recurr... |
ORPHA:98813 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... |
ORPHA:47 |
Wilson Disease |
|
Hepatomegaly, Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Jaundice, Hepa... |
ORPHA:905 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... |
OMIM:606693 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic paraparesis |
ORPHA:329284 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Aggressive behavior, Tremor, Paraparesis, Gait apraxia, B... |
OMIM:615157 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... |
OMIM:193670 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, R... |
OMIM:614104 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Cerebral palsy, Skin rash, Ataxia, Meningitis, Hemiplegia/hemiparesis... |
ORPHA:36412 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia, Clumsiness |
OMIM:610738 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin rash, Lymphopenia, Autoimmune he... |
ORPHA:331206 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait |
OMIM:600363 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Br... |
OMIM:300055 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... |
ORPHA:2688 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Recurrent bacterial infections, Eczematoid dermatitis, Absent circulating ... |
OMIM:619693 |
Neuroectodermal Melanolysosomal Disease |
|
Recurrent respiratory infections, Ataxia, Tremor, Rigidity, Hypertonia, Spasticity |
ORPHA:33445 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysphagia, Lethargy, Limb hy... |
OMIM:233910 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Weight loss |
ORPHA:30925 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia |
ORPHA:306669 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... |
ORPHA:70594 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Dysphagia, Palatal tremor, Failure to thrive |
ORPHA:363717 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tons... |
OMIM:616005 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Recurrent bacterial infections, T lymphocytopenia, ... |
ORPHA:169079 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... |
OMIM:619317 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Difficulty walkin... |
ORPHA:778 |
Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Inability to walk, Gait ataxia, Progressive spasticity, Dysphag... |
DECIPHER:45 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infect... |
OMIM:618048 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Lethargy, Thrombocytopenia, Perioral... |
ORPHA:79242 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Impaired oropharyngeal swallow response, Diff... |
ORPHA:98897 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Dysphagia, Clumsiness, Poor fine motor coordina... |
ORPHA:79263 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Limb fasciculations, Aspiration pneumonia, Dysphagia |
ORPHA:90117 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Skin rash, Slender build, Chorea, Myoclonus, Attention deficit hyp... |
OMIM:617600 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronchiectasis, Recu... |
OMIM:615468 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Head titubation, Inability to walk, Rigidity, Truncal ataxia, Gait ataxia, ... |
OMIM:618877 |
Hijazi-Reis Syndrome |
|
Recurrent respiratory infections, Lower limb spasticity, Recurrent ear infections, Ankle clonus, ... |
OMIM:301094 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Central Diabetes Insipidus |
|
Anorexia, Weight loss, Lethargy, Polydipsia, Failure to thrive |
ORPHA:178029 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... |
ORPHA:391417 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, Myoclonus, Dysto... |
OMIM:606703 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Dysphagia,... |
OMIM:616795 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Ata... |
OMIM:615816 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Small for gestational age, Eczema, Repetitive compulsive behavior,... |
ORPHA:352490 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101075 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait |
OMIM:618387 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Spinocerebellar Ataxia 50 |
|
Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Christianson Syndrome |
|
Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repe... |
ORPHA:85278 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... |
OMIM:210000 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... |
OMIM:601495 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Dysphagia, Weight loss, Bradykines... |
ORPHA:411602 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocut... |
OMIM:147060 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Aggressive behavior, Tremor, Myoclonus, Dysphagia |
ORPHA:97229 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Abnormal repetitive mannerisms |
OMIM:619092 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Rigidity, ... |
OMIM:607483 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Recurrent upper respiratory tract infections, Babinski sign... |
ORPHA:225147 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
OMIM:612069 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Hand tremor, Dysmetria, Tip-toe gait, Gait di... |
OMIM:302800 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... |
OMIM:614700 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Tremor, Myocarditis, Meningitis, Splenomegaly, Lymphadenopathy, Leth... |
ORPHA:83317 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg... |
ORPHA:507 |
Benign Recurrent Intrahepatic Cholestasis |
|
Anorexia, Jaundice, Weight loss, Cholestatic liver disease, Acholic stools, Cirrhosis, Hepatocell... |
ORPHA:65682 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppag... |
OMIM:613280 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Self-injurious behavior, Abnormal repetitive man... |
OMIM:615637 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Increased body weight, Agitation, Pancreatic islet-cell hyperplasia, Lethargy |
ORPHA:276608 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, ... |
OMIM:613496 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:101078 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Eczema, Action tremor |
OMIM:231950 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic pa... |
OMIM:300894 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Hyperkinetic movements, Gait disturbance, Upper limb spasticity, Abnormal rep... |
ORPHA:457240 |
Hypermanganesemia With Dystonia 2 |
|
Limb dystonia, Generalized dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scis... |
OMIM:617013 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorde... |
OMIM:618342 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Dystonia, Self-mutilation |
OMIM:619422 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Jeavons Syndrome |
|
Limb myoclonus, Abnormal head movements |
ORPHA:139431 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Nipah Virus Disease |
|
Anorexia, Tremor, Recurrent pharyngitis, Myoclonus, Infectious encephalitis |
ORPHA:99825 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Abnormality of the liver, Spasticity, Intention tremor |
OMIM:614307 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... |
OMIM:618986 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Recurrent lower respiratory tract infections, Failure to thrive, Recurrent skin infections |
OMIM:617744 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder, Failure ... |
OMIM:619556 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Ga... |
ORPHA:363400 |
Bullous Pemphigoid |
|
Weight loss, Psoriasiform dermatitis, Eczema, Recurrent infections |
ORPHA:703 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign, Dysphagi... |
ORPHA:52368 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Dysmetria, Gait ataxia, Impaired tandem gait, Brad... |
OMIM:300623 |
Typhoid |
|
Hepatomegaly, Ataxia, Skin rash, Tremor, Splenomegaly, Hypertonia, Lethargy, Infectious encephalitis |
ORPHA:99745 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, ... |
ORPHA:167 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Postural tremor, Parkinsonism, Rigidity, Unsteady gait, Babinski sign, Dysmetria, Limb at... |
OMIM:183090 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Lymphopenia, Ataxia, Tremor, Gait disturbance, Spasticity, Fail... |
ORPHA:100 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutilation |
ORPHA:52503 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas... |
ORPHA:352649 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Recurrent respiratory infections, Lower limb spasticity, Ataxia, Rigidity, Inability to walk, Rep... |
OMIM:300260 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lym... |
OMIM:102700 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss, Dysphagia |
ORPHA:2198 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Idiopathic Bronchiectasis |
|
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... |
ORPHA:60033 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia |
ORPHA:50251 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis... |
ORPHA:702 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:617044 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... |
ORPHA:77297 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G... |
OMIM:615530 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Limb hypertonia, Failure to thrive, Dysphagia |
OMIM:617162 |
Kaposi Sarcoma |
|
Recurrent herpes, Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weight loss,... |
ORPHA:33276 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Recurrent hand fla... |
ORPHA:544254 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Inflammation of the large intestine, Lymphadenopathy, Weight loss |
ORPHA:26790 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... |
ORPHA:2388 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent bacterial infection... |
OMIM:612783 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Ataxia, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystonia, Loss of ambulatio... |
OMIM:607694 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hepatic fibrosis, Hepatic steatosis, Self-mutilation, Hemolytic anemia, Hepatomegaly,... |
OMIM:619487 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Ataxia, Anorexia, Cachexia, Myocarditis, Mediastinal lympha... |
ORPHA:3452 |
Rhabdoid Tumor |
|
Cerebral palsy, Thrombocytopenia, Lymphadenopathy, Weight loss, Neoplasm of the liver, Hemiplegia... |
ORPHA:69077 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... |
ORPHA:206443 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... |
ORPHA:208447 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Bro... |
OMIM:619752 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Spasticity, Stereotypical... |
OMIM:312750 |
Sandifer Syndrome |
|
Anemia, Abnormal head movements, Torticollis, Esophagitis |
ORPHA:71272 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Generalized dystonia, Ataxia, Tremor, Splenomegaly, Unsteady ga... |
ORPHA:354 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... |
ORPHA:36387 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Hep... |
OMIM:614162 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss, Recurrent infections |
ORPHA:704 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of... |
ORPHA:289494 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Leukocytosis, Clumsine... |
OMIM:615673 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... |
OMIM:266600 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy |
OMIM:312170 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, B... |
OMIM:618004 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Hypertonia, Shuffling gait, Lethargy |
ORPHA:276432 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Portal hypertension, Anorexia, Hypersplenism, Thrombocytop... |
ORPHA:98850 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... |
OMIM:612541 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Gait disturbance |
ORPHA:99014 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Parkinson Disease 21 |
|
Tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:616361 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Bronchiectasis, Lymphadenopathy, Weight loss, Dissem... |
ORPHA:411703 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Clumsiness, Poor fine motor... |
ORPHA:137898 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, M... |
OMIM:607115 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis, Weight loss |
OMIM:613239 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Thrombocytopenia |
OMIM:603585 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Dystonia, Short stepped ... |
OMIM:168600 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Spontaneous Periodic Hypothermia |
|
Tremor, Gait disturbance, Skin rash, Ataxia |
ORPHA:29822 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Chorea, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Pustule, Recurrent tonsillitis, Atopic dermatitis, W... |
ORPHA:171876 |
48,Xxyy Syndrome |
|
Recurrent respiratory infections, Ataxia, Tremor, Obesity, Attention deficit hyperactivity disord... |
ORPHA:10 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Hypertonia, Cachexia |
ORPHA:1389 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... |
ORPHA:3208 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophago... |
OMIM:301078 |
Ddost-Cdg |
|
Recurrent ear infections, Tremor, Oromotor apraxia, Failure to thrive, Hepatic steatosis |
ORPHA:300536 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Bradykinesia, Blepharospasm, Falls, Dyst... |
ORPHA:683 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Sepsis, Nep... |
ORPHA:2552 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Aspiration pneum... |
ORPHA:79264 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Severe infection, Leukocytosis, Choreoathetosis, Steppage gait, Gait disturbance, Difficu... |
ORPHA:206594 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Ataxia, Paraplegia, Agitation, Lethargy, Failure to thrive, Abnormal repetitive man... |
ORPHA:927 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention defici... |
OMIM:619680 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Re... |
OMIM:615895 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:98794 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Lymphadenopat... |
ORPHA:139402 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... |
OMIM:619580 |
Postinfectious Vasculitis |
|
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... |
ORPHA:48435 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Overweight, Repetitive compulsive behavior, Recurrent upper respirator... |
ORPHA:391372 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe... |
OMIM:617710 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Gait disturbance, Shuffling gait... |
OMIM:168601 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Paraplegia, Recurrent bacterial inf... |
OMIM:617053 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Men... |
ORPHA:37042 |
Ataxia-Telangiectasia |
|
Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor... |
OMIM:208900 |
Brucellosis |
|
Liver abscess, Anorexia, Chorea, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infec... |
ORPHA:1304 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem... |
OMIM:300957 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... |
OMIM:608643 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Tremor, Chorea, Oculomotor apraxia, Truncal ataxia, Limb ataxia, Gait ataxia, Dystonia, L... |
OMIM:208920 |
Classic Phenylketonuria |
|
Eczema, Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity ... |
ORPHA:79254 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Sepsis, Weight loss, Recurrent inf... |
ORPHA:764 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... |
OMIM:620141 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism |
OMIM:614251 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Eczema, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnor... |
OMIM:600430 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Psoriasiform dermatitis, Ataxia, Recurrent ear infections, Re... |
ORPHA:221139 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... |
ORPHA:83469 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia... |
ORPHA:99027 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Blepharospas... |
ORPHA:101 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Anorexia... |
ORPHA:824 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Q Fever |
|
Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Unusual ... |
ORPHA:781 |
Takayasu Arteritis |
|
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Inflammatory abnormality of th... |
ORPHA:3287 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Chronic infection, Thrombocytopenia, Leukocytosis, Weight loss, Lymphaden... |
ORPHA:520 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturb... |
OMIM:300986 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Dysphagia |
OMIM:313200 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Recurrent candida infections, Lethargy, Failure to th... |
OMIM:201100 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Gait ataxia, Difficulty walking, Dystonia, Spasticity, Abnormal repetitive mann... |
OMIM:617807 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements, Infectious encephalitis |
ORPHA:363558 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis, Weight loss |
ORPHA:1164 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Oromandibular dys... |
OMIM:614298 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... |
ORPHA:228402 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Aggressive behavior, Hypertonia, Gait disturbance, Attention de... |
OMIM:300352 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri... |
ORPHA:48818 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D... |
OMIM:614381 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Steppage gait, Hypertonia, Myoclonus, Inte... |
OMIM:616505 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Obesity, Compulsive behaviors, Spa... |
OMIM:618430 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Dystonia, Ataxia, Bone-marrow foam cells, Splenomegaly, Jaundice, Prolonged neonata... |
OMIM:607625 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hep... |
OMIM:608233 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocy... |
ORPHA:514 |
Fatal Familial Insomnia |
|
Weight loss, Ataxia, Myoclonus, Dysphagia |
OMIM:600072 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Sepsis, Weight loss |
ORPHA:388 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Recurrent urinary tract infections, Ataxia, Tremor, Inability to walk, Ove... |
OMIM:619229 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Lymphadenopathy, Dysphagia |
ORPHA:142 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Invasive parasitic infection, Unusual infection, He... |
ORPHA:400 |
Malt Lymphoma |
|
Recurrent respiratory infections, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Post... |
ORPHA:52417 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... |
OMIM:617321 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Anorexia, Keratitis, Lympha... |
ORPHA:31204 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Recurrent pneumonia, Abnormal repetitive mannerisms, Hepatosplenomegaly |
ORPHA:397612 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hemolytic anemia,... |
OMIM:615846 |
Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
Behçet Disease |
|
Myositis, Anorexia, Abnormal pyramidal sign, Meningitis, Infectious encephalitis, Acne, Ataxia, R... |
ORPHA:117 |
Ménétrier Disease |
|
Helicobacter pylori infection, Anorexia, Hypochromic microcytic anemia, Weight loss, Giant hypert... |
ORPHA:2494 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Eosinophilia, Leukocytosis, Atopic dermatitis, Weight loss, Dysphagia, Anemia |
ORPHA:2070 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ... |
ORPHA:324964 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Tremor, Inability to walk, Choreoathetosis, Dysphagia, Spasticity |
OMIM:617664 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Frequent falls, Tremor, Inability to walk, Dysmetri... |
ORPHA:845 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-posit... |
ORPHA:133 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Attention de... |
OMIM:620242 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Babinski sign, Abnormal pyramidal sign, Vacuolated lymphocytes, Limb ... |
OMIM:248500 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Chole... |
OMIM:300972 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, We... |
ORPHA:85408 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Hypertonia, Difficulty walking, Re... |
OMIM:123450 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infarction, Recurre... |
OMIM:603903 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Recurrent infections, Compulsive behaviors, Attention d... |
ORPHA:476126 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Myoclonus, Spast... |
ORPHA:168491 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Hemophagocytosis, Weight loss |
ORPHA:86884 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... |
OMIM:619121 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Ataxia, Pneumonia, Recurrent viral infections, Recurrent pneumonia, ... |
ORPHA:420741 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Glomerulonephritis, Head tremor |
OMIM:619428 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Recurrent pneumonia, Neutropenia, Opisthotonus, Choreoathetosis, Recurrent infect... |
OMIM:616271 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Dysphagia |
OMIM:619790 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... |
OMIM:182290 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hepatomegaly, Hyperactivity, Tremor, Keratitis, Jaundice, Splenomegaly, Neutropenia... |
ORPHA:525731 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,... |
OMIM:617388 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Dysphagia, Focal dystonia, Bradykinesia, Clumsiness, Parkinsoni... |
ORPHA:199351 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms, Myoclonus |
ORPHA:411986 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Weight loss, Failure to thrive, Anemia |
ORPHA:1842 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Jaundice, Unsteady ... |
OMIM:615512 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Dysphagia, Vocal cord paresis |
OMIM:619574 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Peritonitis, Jaundice, Weight loss, Cholecystiti... |
ORPHA:131 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Hemip... |
ORPHA:183 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ... |
ORPHA:85414 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Severe viral infection, Bronchiecta... |
ORPHA:79128 |
Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:94080 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper motor neur... |
ORPHA:530983 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Gait imbalance, Dystonia, ... |
ORPHA:2828 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased body mass index, Hepatomegaly, Aggressive behavior, Tremor... |
ORPHA:247585 |
Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Acute infectious pneumo... |
ORPHA:723 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Retrobulbar optic neuritis, Meningitis, Leukocytosis, S... |
ORPHA:1451 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Hypertonia, Abnormal repetitive mannerisms |
OMIM:619877 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria |
OMIM:615578 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Thrombocytosis, Anorexia, Leukocytosis, Weight loss, Agitation, Extrapyrami... |
ORPHA:134 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Fai... |
ORPHA:261197 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Tremor, Recurrent infections, Self-injurious behavior, Compulsive behaviors,... |
OMIM:617061 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Bronchiectasis,... |
ORPHA:244 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... |
OMIM:610042 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Intr... |
ORPHA:53035 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... |
OMIM:610883 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ataxia, Thrombocytosis, Anorexia, Spastic hemiparesis, Leukocyt... |
ORPHA:20 |
Listeriosis |
|
Liver abscess, Tremor, Sepsis, Granulomatosis, Conjunctivitis, Cholecystitis, Meningitis, Infecti... |
ORPHA:533 |
Transketolase Deficiency |
|
Hepatomegaly, Seborrheic dermatitis, Uveitis, Self-injurious behavior, Conjunctivitis, Compulsive... |
ORPHA:488618 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight |
OMIM:618347 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
Sézary Syndrome |
|
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal lymphocyte morphology |
ORPHA:3162 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity |
OMIM:616801 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Se... |
OMIM:300912 |
Medullary Thyroid Carcinoma |
|
Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, Dysphagia |
ORPHA:1332 |
Secondary Short Bowel Syndrome |
|
Sepsis, Enterocolitis, Weight loss, Cholestasis, Failure to thrive, Polyphagia |
ORPHA:95427 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurren... |
ORPHA:575 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Cystinosis |
|
Portal hypertension, Abnormal pyramidal sign, Gait disturbance, Polydipsia, Failure to thrive, Ab... |
ORPHA:213 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Gait imbalance, Attention deficit hype... |
OMIM:619312 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Recurrent abscess fo... |
OMIM:619381 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Ataxia, Anorexia, Pustule, Myocarditis, Cer... |
ORPHA:50918 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Athetosis, Bruxism, Spasticity, Apraxia, Abnormal repetitive ... |
OMIM:613454 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... |
ORPHA:98784 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis, Dysphagia, Anemia |
ORPHA:298 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma |
ORPHA:312 |
Generalized Pustular Psoriasis |
|
Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Sepsis, Obesity, Arthritis, Palmoplantar p... |
ORPHA:247353 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Tetraparesis |
ORPHA:85277 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Weight loss, Ar... |
OMIM:301074 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Tremor, Increased body weight, Agitation, Pancreatic isl... |
ORPHA:263455 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Eczema, Recurrent pneumonia, Recurrent otitis media, Abnormal repetitive mannerisms |
OMIM:617751 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ataxia, Cachexia, Lethargy, Hepatic steatosis |
ORPHA:42 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne... |
OMIM:619435 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... |
ORPHA:398063 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... |
ORPHA:449291 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic ... |
ORPHA:284 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma... |
ORPHA:646 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Lymphangiectasis |
ORPHA:182 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Weight loss, Myoclonus, Failure to thrive, Anemia |
OMIM:256700 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... |
ORPHA:72 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms, Anemia, Neutropenia |
OMIM:618067 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Anorexia, Myocarditis, Peritonitis, Leukocytosis, Thromb... |
ORPHA:810 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... |
ORPHA:171 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Spasticity, Abnormal repetitive mannerisms, Involuntary movements, Dysphagia |
ORPHA:572013 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Giant Cell Arteritis |
|
Pericarditis, Ataxia, Anorexia, Recurrent pharyngitis, Mediastinal lymphadenopathy, Weight loss, ... |
ORPHA:397 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Weight loss |
ORPHA:2221 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Anemia |
ORPHA:75233 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Cryptococcal meningitis, Weight loss, Abnormal lymphatic vessel morphology, ... |
ORPHA:90362 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Arthritis, Cirr... |
ORPHA:465508 |
Polymyositis |
|
Hepatomegaly, Pericarditis, Anorexia, Weight loss, Arthritis, Gait disturbance |
ORPHA:732 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Hepatomegaly, Ataxia, Tremor, Inability to walk, Chorea, Truncal a... |
OMIM:615356 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Anorexia, Jaundice, Weight loss, Pancreatitis, Anemia |
ORPHA:370348 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Anemia |
ORPHA:2930 |
Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Recurrent ... |
ORPHA:2203 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:613443 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Cachexia, Spastic diplegia, Recurrent infections, Opisthotonus, Ankle clon... |
ORPHA:206436 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Ataxia, Recurrent pneumonia, Tetraplegia, Fasciculations, Progressive spasticity, Dysph... |
ORPHA:496641 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Tics, Otitis media, Compulsive behaviors, Decreased body weight, Abnormal rep... |
OMIM:619475 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Anorexia, Sepsis, Hepatitis, Weight loss, Let... |
ORPHA:199299 |
Vici Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Recurrent viral infections, Neutropenia, Chronic m... |
OMIM:242840 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Recurrent respiratory infections, Incoordination, Gait ataxia, Abnormal repetitive mannerisms, Ov... |
OMIM:616579 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Abnorm... |
OMIM:618205 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Abnormal central motor function, P... |
ORPHA:3385 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Recurrent ap... |
OMIM:212750 |
Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Severe temper tantrums, Compulsive behaviors, Recurrent otitis media, Abnormal rep... |
OMIM:618027 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Weight loss |
OMIM:188580 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Bronchiectasis, Uveitis |
OMIM:612387 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Weig... |
ORPHA:1333 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Hepatomegaly, Ataxia, Uveitis, Gait disturbance, Conjunctivitis, Difficult... |
ORPHA:90322 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Arthritis, Vocal cord paralysis, Dysphagia |
ORPHA:397744 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Recurrent lower respiratory tract infections, Abnormal repetitive mannerisms, ... |
OMIM:617802 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Anorexia, Weight loss |
ORPHA:1302 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... |
OMIM:618914 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior, Impulsivity, Chorea, Ab... |
ORPHA:2131 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent urinary tract infections, Recurrent pneumonia, Attention deficit hyperactivity disorder... |
OMIM:619293 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
Acrodermatitis Enteropathica |
|
Anorexia, Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis |
ORPHA:37 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent otitis media, Recurrent pneumonia, Abnormal repetitive mannerisms, Eczema |
ORPHA:500159 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Gout, Recurrent bacter... |
OMIM:232220 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hyperactivity, Cachexia, Aggressive behavior, Tremor, Obesity |
ORPHA:85293 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia |
ORPHA:1933 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:144 |
Joubert Syndrome 6 |
|
Ataxia, Bile duct proliferation, Hepatic fibrosis, Oculomotor apraxia, Abnormal repetitive manner... |
OMIM:610688 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysphagia, Progressive gait at... |
OMIM:606002 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Spasticity, Babinski sign, Cachexia, Dystonia |
OMIM:618186 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Pancreatitis |
ORPHA:188 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Overweight, Pica, Obsessive-compulsive trait, Abnormal ... |
OMIM:617796 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia |
ORPHA:2047 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... |
ORPHA:522077 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Microvesicular hepatic steatosis, ... |
ORPHA:66634 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Obesity, Self-injurious behavior, Gait disturbance, Attention defic... |
ORPHA:819 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Weight loss... |
ORPHA:29207 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Anorexia, Tetraplegia, Weight loss, Recurrent infections, Fai... |
ORPHA:361 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent herpes, Recurrent... |
ORPHA:125 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hem... |
ORPHA:512 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:440437 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting |
ORPHA:3306 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Lymphopenia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... |
OMIM:608710 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Ataxia, Tremor, Cholestatic liver disease, Cholelithiasis |
ORPHA:79095 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Failure to thrive, Aplasia/Hypoplasia of the thymus |
ORPHA:2176 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Atopic dermatitis, Weight loss |
ORPHA:2902 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Med... |
ORPHA:97289 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, Limb dystonia, Spasticity, Abnormal repetitive manner... |
ORPHA:457351 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Biliary tract abnormality, Weight loss, Neoplasm of the liver, Cirrhosis |
ORPHA:90003 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Hepatomegaly, Ataxia, Tremor, Uveitis, Gait disturbance, Conjunctivitis, D... |
ORPHA:90321 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Anorexia, Weight loss |
ORPHA:97287 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... |
OMIM:607485 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysphagia, Athetosis, D... |
ORPHA:25 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Recurrent infections, Self-injurious ... |
OMIM:616364 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive be... |
OMIM:613174 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Congenital Tufting Enteropathy |
|
Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Glomerulonephritis, Thrombocytopenia, Hepatosplenomegaly, Tubulointerstitial nephri... |
ORPHA:470 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Thrombocytopenia, Neutropenia, Sepsis, Weight loss, Conjunctivi... |
ORPHA:537 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... |
OMIM:601104 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Recurrent pharyngitis, Peritonitis, Leuko... |
ORPHA:32960 |
Hydroxykynureninuria |
|
Stomatitis, Hypertonia, Abnormal repetitive mannerisms |
ORPHA:79155 |
Rift Valley Fever |
|
Skin rash, Anorexia, Paralysis, Paraparesis, Thrombocytopenia, Jaundice, Severe viral infection, ... |
ORPHA:319251 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss |
ORPHA:100080 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Chronic neutropenia, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Recurren... |
ORPHA:79259 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Self-injurious behavior, Ga... |
ORPHA:58 |
Intrahepatic Cholestasis Of Pregnancy |
|
Skin rash, Small for gestational age, Tremor, Abnormality of the pancreas, Jaundice, Cholecystitis |
ORPHA:69665 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Self-injurious behavior, Spastic tetraplegia, Cachexia |
ORPHA:371364 |
Polyarteritis Nodosa |
|
Pericarditis, Weight loss |
ORPHA:767 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, Failure to thrive |
ORPHA:85410 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Spasticity, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Sepsis, Weight lo... |
ORPHA:36426 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Babinski sign, Hypertonia, Inappropriate laughter, Spasticity, Failure to thrive, Abnormal repeti... |
OMIM:615802 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Overweight, Head-banging, Self-injurious behavior, Attention de... |
OMIM:619575 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Hypereosinophilia, Weight loss |
ORPHA:449400 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Unsteady gait, Hypertonia, Failure to thrive, Abnormal repetitive mannerisms... |
OMIM:212066 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Neutropenia, Lethargy, Failure to thrive, A... |
OMIM:251100 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Progressive gait at... |
OMIM:607459 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Iridocyclitis, Mediastinal lym... |
OMIM:181000 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Inability to walk, Spastic tetraplegia, Spastic diplegia, Dystonia, ... |
ORPHA:300570 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Aplasia/Hypoplasia of t... |
ORPHA:1727 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Clumsiness, Attention deficit hyperactivity disorder, Compulsive behaviors, Juvenile rheu... |
OMIM:615656 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Lower limb spasticity, Clonus, Hair-pulling, Hyp... |
ORPHA:447997 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Head-banging, Attention deficit hyperactivity disorder, Frequ... |
OMIM:619103 |
Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level |
ORPHA:353298 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... |
ORPHA:160 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Uveitis, Meningitis |
ORPHA:91546 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms |
ORPHA:529965 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Failure to thrive, Abnormal repetitive manneris... |
OMIM:619695 |
Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:1133 |
Nmda Receptor Encephalitis |
|
Oculogyric crisis, Involuntary movements, Rigidity, Hypersexuality, Chorea, Neoplasm of the thymu... |
ORPHA:217253 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:276621 |
Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal re... |
OMIM:610253 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss |
ORPHA:100082 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Tubulointerstitial nephritis, Weight loss, Abn... |
ORPHA:85450 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Unsteady gait, Tongue thrusting, Recurrent infections, Bru... |
OMIM:606232 |
Loeffler Endocarditis |
|
Pericarditis, Eosinophilia, Weight loss |
ORPHA:75566 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Recurrent respiratory infect... |
ORPHA:900 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
Cogan Syndrome |
|
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... |
ORPHA:1467 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Thrombocytopenia,... |
ORPHA:2072 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Ataxia, Retroperitoneal fibrosis, Weight loss, Polydipsia, Anemia |
ORPHA:35687 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Keratitis, Weight loss, Aspiration pneumonia, Dysphagia, Failur... |
ORPHA:1018 |
Bainbridge-Ropers Syndrome |
|
Failure to thrive, Inability to walk, Recurrent infections, Self-injurious behavior, Hypertonia, ... |
OMIM:615485 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Leukocytosis, Weight loss, Anemia, Constrictive pericarditis, Acute colitis |
ORPHA:67 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms |
OMIM:617682 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss |
ORPHA:729 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Tremor, Weight loss, Difficulty walking, Dysphagia |
OMIM:164310 |
Wilson Disease |
|
Tremor, Osteoarthritis, Hand tremor, Limb dystonia, Hepatic steatosis, Hemolytic anemia, Hepatome... |
OMIM:277900 |
Glossopharyngeal Neuralgia |
|
Weight loss, Vocal cord paralysis, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
2Q37 Microdeletion Syndrome |
|
Eczema, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repetit... |
ORPHA:1001 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Aggressive behavior, Obesity, Self-injurious behavior, Chronic ... |
ORPHA:261494 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Abnormal repetitive mannerisms |
ORPHA:457279 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Retroperitoneal fibrosis, Lymph... |
ORPHA:449395 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Weight loss, Dysphagia, Slender build, Allodynia |
OMIM:603041 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... |
ORPHA:2273 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Inability to walk, Decreased proportion of CD8-positive T cells, Recurrent pneumoni... |
ORPHA:508533 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Abnormal repetitive mannerisms, Myoclonus |
OMIM:300672 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Abnormality of body weight, Osteoarthritis, Increased body weight, Biliary ... |
ORPHA:2298 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Cachexia |
ORPHA:217346 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Intermediate ... |
ORPHA:91500 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Chorea, Gait ataxia, Choreoathetosis, Myoclonus, Dysphagia, Abn... |
OMIM:619777 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Ano... |
ORPHA:49041 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Cachexia, Anorexia |
OMIM:175500 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Vacu... |
ORPHA:275761 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Chronic lym... |
ORPHA:91139 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:29072 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Spasticity, Skin rash, Ataxia |
ORPHA:220295 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Inability to walk, Splenomegaly, Hepatosplenomegaly, Weight los... |
ORPHA:576 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Aggressive behavior, Obesity, Hepatosplenomegaly, Cholecystitis, Recurrent otitis m... |
OMIM:301066 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Iron deficiency anemia |
ORPHA:100075 |
White-Sutton Syndrome |
|
Hyperactivity, Incoordination, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive ... |
ORPHA:468678 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Salt craving, Anorexia, Weight loss, Recurrent acute respiratory tract infecti... |
ORPHA:95409 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Weight loss, Arthritis, Dysphagia |
ORPHA:93672 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Jerky head movements, Obesity |
ORPHA:369837 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,... |
ORPHA:96121 |
Carney-Stratakis Syndrome |
|
Weight loss, Dysphagia |
ORPHA:97286 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Weight loss |
ORPHA:2126 |
Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Dysphagia, Anemia |
ORPHA:85443 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... |
OMIM:186580 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ataxia, Weight loss, Apraxia, Pancreatic hypoplasia, Reduced pancreatic beta c... |
ORPHA:99885 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Uveitis |
OMIM:193235 |
Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Keratitis, Hemiplegia/hemiparesis, Uveitis, Gait disturbance, Attention ... |
ORPHA:464 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Antiphospholipid Syndrome, Familial |
|
Keratitis, Scleritis, Iritis, Autoimmune thrombocytopenia |
OMIM:107320 |
Malignant Atrophic Papulosis |
|
Peritonitis, Arteritis, Weight loss |
ORPHA:679 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Attention deficit hyperactivity disorder, Decre... |
OMIM:619005 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Small for gestational age, Eczema, Recurrent infections, Gait disturbance, Failure... |
ORPHA:464306 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Anorexia, Aggress... |
ORPHA:99826 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Anorexia, Acanthocytosis, Intrahepatic cholest... |
ORPHA:97280 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Po... |
OMIM:620330 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia, Lymphadenopathy, Weight loss |
ORPHA:2905 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, ... |
ORPHA:177907 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Hemolytic anemia, Autoimmun... |
ORPHA:647 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology |
ORPHA:1830 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Recurr... |
ORPHA:513456 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic ins... |
ORPHA:309031 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Hyperactivity, Impulsivity, Aggressive behavior, Recurrent ear infections, Splenome... |
ORPHA:580 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Recurrent infections, Gait disturbance, Attention deficit hyperactivit... |
ORPHA:464311 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Jaundice, Neutropenia, Hypertonia, Dysphagia, Failure to thrive |
OMIM:617248 |
Juvenile Xanthogranuloma |
|
Iritis, Blepharitis, Myeloproliferative disorder, Uveitis |
ORPHA:158000 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Eczema, Abnormal pyramidal sign, Self-injurious behavior, Hypertonia, Hyperkinetic movements, Sev... |
ORPHA:468631 |
Addison Disease |
|
Normocytic anemia, Salt craving, Anorexia, Thiamine-responsive megaloblastic anemia, Thymoma, Wei... |
ORPHA:85138 |
Cockayne Syndrome |
|
Hepatomegaly, Ataxia, Cachexia, Action tremor, Inability to walk, Splenomegaly, Limb hypertonia, ... |
ORPHA:191 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Incoordination, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia |
ORPHA:1578 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Neoplasm of the thymus, Intrahepatic cholestasi... |
ORPHA:97261 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Cachexia, Anorexia, Splenomegaly, Leukopenia, Slender build,... |
ORPHA:1328 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Poor gross motor coo... |
OMIM:614756 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... |
ORPHA:97278 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Unilateral vocal cord paralysis, Recurrent infections, Attention deficit hyperactivi... |
OMIM:301030 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation |
ORPHA:179494 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms |
ORPHA:261144 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Hypochromic microcyti... |
ORPHA:97283 |
Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Abnormal rep... |
OMIM:615873 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Anemia, Weight loss |
ORPHA:29073 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Abnormal repetitive manneri... |
OMIM:616268 |
Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Bruxism, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619297 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Maculopapular exanthema, Eosinophilia, Portal hypertension, Eryth... |
ORPHA:797 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Lymphadenopathy, Tubulointerstitial... |
ORPHA:79078 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Osteomyelitis, Hyperactivity, Impulsivity, Recurrent Staphylococcus aureu... |
ORPHA:642 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Obesity, Difficulty walking, Recurrent infections |
OMIM:618653 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Weight loss, Aspiration pneumonia, Dysphagia, Failure to thrive |
ORPHA:2020 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, Abno... |
OMIM:617330 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... |
ORPHA:97282 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Pneumonia, I... |
ORPHA:353281 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Pancytopenia, Anorexia, Urinary bladder inflammation, Bronchiectasis, Recurrent infect... |
ORPHA:99921 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Splenomegaly, Keratoconjunctivitis, Scleri... |
ORPHA:95159 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Weight loss, Dysphagia, Polydipsia, Pancreatitis |
ORPHA:143 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Spasticity, Ab... |
OMIM:301040 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Clonus, Cheilitis, Anemia, Arthritis, Self-injurious behavior, ... |
ORPHA:534 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Xfe Progeroid Syndrome |
|
Poor coordination, Failure to thrive, Cachexia |
OMIM:610965 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegal... |
ORPHA:79277 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Failure t... |
OMIM:619512 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Anorexia, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, O... |
ORPHA:509 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:319182 |
Localized Scleroderma |
|
Fasciitis, Uveitis, Arthritis, Esophagitis, Hashimoto thyroiditis |
ORPHA:90289 |
Hermansky-Pudlak Syndrome |
|
Neutropenia, Anorexia, Weight loss |
ORPHA:79430 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weig... |
ORPHA:221 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... |
OMIM:618131 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
1P36 Deletion Syndrome |
|
Hepatic steatosis, Hemiplegia/hemiparesis, Abnormality of the spleen, Polyphagia, Obesity, Self-i... |
ORPHA:1606 |
Schwartz-Jampel Syndrome |
|
Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Attention deficit hyperactivity disorder, ... |
ORPHA:800 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Weight loss,... |
OMIM:219800 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis, Weight loss |
ORPHA:100078 |
Ogden Syndrome |
|
Torticollis, Eczema, Polycythemia, Microvesicular hepatic steatosis, Jaundice, Recurrent infectio... |
OMIM:300855 |
Wiskott-Aldrich Syndrome |
|
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
Incontinentia Pigmenti |
|
Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Uveitis, Spasticity |
OMIM:308300 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Acne, Anorexia, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosi... |
ORPHA:99889 |
Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, Uveitis, Tetraparesis, Spasticity |
OMIM:164200 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Periodic hypokalemic paresis, Weight loss |
ORPHA:91347 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Weight loss, Anem... |
ORPHA:84 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
Stickler Syndrome |
|
Recurrent respiratory infections, Cachexia, Hemiplegia/hemiparesis, Osteoarthritis, Uveitis, Chro... |
ORPHA:828 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia |
ORPHA:109 |
Zollinger-Ellison Syndrome |
|
Extrahepatic cholestasis, Jaundice, Esophagitis, Weight loss |
ORPHA:913 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Pneumonia, I... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Pneumonia, I... |
ORPHA:353277 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Granu... |
ORPHA:93126 |
Amoebic Keratitis |
|
Scleritis, Anterior uveitis |
ORPHA:67043 |
Leprosy |
|
Abnormality of the spleen, Uveitis, Abnormality of the liver, Steppage gait, Iritis |
ORPHA:548 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Small for gestational age, Poor coordination, Spastic diplegia, Abnormal repetitiv... |
OMIM:309590 |
Trisomy 18 |
|
Hypertonia, Cachexia |
ORPHA:3380 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Anorexia, Insulinoma, Thymoma, Weight loss, Lethargy |
ORPHA:652 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Bronchiectasis, Weight loss |
ORPHA:60025 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Self-injurious behavior, Truncal obesity, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:612474 |
Norrie Disease |
|
Clonus, Cachexia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder, ... |
ORPHA:649 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms, Exocrine pancreatic insufficiency |
ORPHA:508498 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Marfan Syndrome |
|
Cachexia, Arthralgia/arthritis, Slender build, Attention deficit hyperactivity disorder |
ORPHA:558 |
Juvenile Polyposis Of Infancy |
|
Anemia, Refractory anemia, Cachexia |
ORPHA:79076 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Small for gestational age, Biliary tract abnormality, Failure to thrive, Abnorm... |
OMIM:194190 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Osteoarthritis, Shuffling gait, Weight loss |
ORPHA:740 |
Hallermann-Streiff Syndrome |
|
Abdominal situs inversus, Uveitis |
ORPHA:2108 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Hypertonia, Abnormal repetitive mannerisms, Spastic tetraparesis |
OMIM:301044 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Asplenia, Inability to walk, Bruxism, Recurrent infections, Poor fine motor coo... |
ORPHA:261537 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function |
ORPHA:567 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Asplenia, Inability to walk, Enterocolitis, Dysphagia, Recurrent infect... |
ORPHA:2152 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Acne, Weight loss |
ORPHA:90794 |
Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Splenomegaly, Recurrent infections, Lymphan... |
ORPHA:744 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Primrose Syndrome |
|
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Truncal obesity, Tics, Attent... |
OMIM:259050 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Asplenia, Inability to walk, Bruxism, Recurrent infections, Poor fine motor coo... |
ORPHA:261552 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Uveitis |
OMIM:221900 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Coffin-Siris Syndrome 12 |
|
Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619325 |
Goodpasture Syndrome |
|
Glomerulonephritis, Anemia, Weight loss |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Cachexia |
ORPHA:75565 |
Retinoblastoma |
|
Leukemia, Uveitis |
ORPHA:790 |
Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |
Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |