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Gene: Sele MGI:98278

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
selectin, endothelial cell
Synonyms:
Elam,  E-selectin,  CD62E

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sele mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sele by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
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
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
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... OMIM:613670
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cereb... ORPHA:314978
Dystonia 28, Childhood-Onset
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
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favora... OMIM:616710
Idiopathic Achalasia
Weight loss, Recurrent aspiration pneumonia, Dysphagia ORPHA:930
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Oromandibular dystonia, Scissor gait, Bradykinesia, Ankle cl... ORPHA:521406
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Weight loss, Leu... ORPHA:33355
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of amb... OMIM:615010
Immunodeficiency With Hyper-Igm, Type 2
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
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
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
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sele

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sele.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Selenoiem1(IMPC)Wtsi Selenowtm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Selenowtm1b(EUCOMM)Wtsi PMC7338221
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. Nature genetics (December 2017) Selenbp1tm1b(KOMP)Wtsi PMC5742538
Deletion of selenoprotein M leads to obesity without cognitive deficits. The Journal of biological chemistry (July 2013) Selenomtm1(KOMP)Vlcg PMC3764815

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MGI Allele Allele Type Produced
Seletm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Seletm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Seletm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Seletm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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