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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
Abnormality of neutrophil physiology, Leukocytosis 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
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... OMIM:614372
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis, ... OMIM:616126
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... OMIM:613953
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurrent... OMIM:616022
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Progressive extrapyramidal movement disorder, Abnormal head movements, C... ORPHA:382
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Huntington Disease-Like 2
Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Weight loss, Dystonia ORPHA:98934
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Falls, Bruxism, Chorea, Inappropriate laughter, Motor stereotypy, Aggressive b... OMIM:619150
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Mantle Cell Lymphoma
Anorexia, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Dystonia 11, Myoclonic
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors OMIM:159900
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di... OMIM:617270
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... ORPHA:401901
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Huntington Disease-Like 1
Involuntary movements, Abnormal head movements, Incoordination, Chorea, Gait ataxia, Simultanapra... ORPHA:157941
Immunodeficiency 61
Recurrent otitis media, Obesity, Recurrent sinusitis, Attention deficit hyperactivity disorder, R... OMIM:300310
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Violent behavior, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigi... ORPHA:216873
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Decreased body weight, Truncal ataxia, Unsteady gait, Motor st... OMIM:614063
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Huntington Disease
Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Weight loss, Clonus, Bradykinesia, Poo... ORPHA:399
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Abnormal T cell count, Recurrent respiratory infections, Abnormal... OMIM:613495
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Spasticity, Involuntary movements, Inability to walk, Dystonia, Motor st... OMIM:617820
Juvenile Huntington Disease
Broad-based gait, Chorea, Gait ataxia, Myoclonus, Rigidity, Dystonia, Weight loss, Hyperactivity,... ORPHA:248111
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... OMIM:620482
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neut... OMIM:613501
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... OMIM:608636
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Dystonia, ... OMIM:618093
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor, Stereotypical hand wringing OMIM:619561
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia OMIM:606438
Huntington Disease-Like 3
Broad-based gait, Spasticity, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, ... ORPHA:157946
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Hepa... OMIM:615924
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Involuntary movements, Motor stereotypy, Agitation OMIM:617171
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Kinetic tremor, Abnormal pyramidal s... ORPHA:101110
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia, Dysphagia OMIM:128235
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... ORPHA:911
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy OMIM:619470
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Self-mutilation, Tremor, Aggressive behavior, Waddling... OMIM:616269
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm... ORPHA:83471
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Motor stereotypy, Abnormal pyramidal sign, H... OMIM:617435
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Conjunctivitis, Recurrent otitis media, Recurrent bro... OMIM:240500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Failure to thrive, Recurrent apht... ORPHA:275
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... OMIM:302500
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Spasticity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Purine Nucleoside Phosphorylase Deficiency
Recurrent viral infections, Tetraparesis, Lymphopenia, Lymph node hypoplasia, Ataxia, Recurrent l... OMIM:613179
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections, Osteomyelit... OMIM:615978
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Hepatome... ORPHA:276
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchit... OMIM:607594
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, G... OMIM:600795
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Motor ... OMIM:618218
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Fasciculations OMIM:615048
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Dec... OMIM:243700
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss, Dysphagia ORPHA:930
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Speech a... OMIM:613670
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... OMIM:613493
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Episodic Ataxia Type 4
Incoordination, Abnormal head movements, Frequent falls, Ataxia ORPHA:79136
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Absent circulating B cells, Abnormal T cell morpholo... OMIM:613500
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Gait disturbance, Parkinsonism with favorable response t... OMIM:616710
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Reticular Dysgenesis
Sepsis, Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopen... ORPHA:33355
Immunodeficiency 112
Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,... OMIM:620449
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy, Recurrent bacterial infection... OMIM:605258
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Pyruvate Dehydrogenase E2 Deficiency
Generalized dystonia, Paroxysmal dystonia, Oculomotor apraxia, Jerky head movements, Ataxia, Dyst... OMIM:245348
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Spastic diplegia OMIM:617830
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Lymphadenopathy, Recurrent upper and lower respirat... OMIM:608106
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Aids Wasting Syndrome
Cachexia, Weight loss, Anorexia ORPHA:90081
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem gait, Lower limb spa... OMIM:619028
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand w... OMIM:618917
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal bursts of lau... OMIM:618718
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, Abnormal pyra... OMIM:213600
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Bruxism, Myoclonus, Stereotypical hand wringin... ORPHA:561854
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Loss of ambulation, Chilblains, Thrombocytopenia, Hepatomegaly, D... OMIM:615010
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Aspiration pneumonia, Inability to walk, Opisthot... ORPHA:216866
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Han... ORPHA:3095
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... ORPHA:71517
Perry Syndrome
Short stepped shuffling gait, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dystonia, Disin... OMIM:168605
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... OMIM:226990
Immunodeficiency 27A
Pneumonia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory respo... OMIM:209950
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Hyperkinetic mov... ORPHA:93958
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Aggressive behavior, Parkinson... OMIM:137440
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia, Recurrent infections ORPHA:210128
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... ORPHA:42642
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus,... ORPHA:2590
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Spasticity, Poor coordination, Difficulty walking, Ina... OMIM:617695
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology, Anorexia ORPHA:2023
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis OMIM:261630
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:86893
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Dysphagia ORPHA:276435
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... OMIM:300423
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Abnormal T cell morphology, Recurrent bronchitis, Ch... OMIM:612692
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Anorexia, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Ata... ORPHA:391
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Tremor, Ataxia OMIM:278780
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor... ORPHA:3077
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Felty Syndrome
Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, A... ORPHA:47612
Laryngeal Neuroendocrine Tumor
Weight loss, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response ... ORPHA:240085
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Ataxia OMIM:618951
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal muscular rigidity, Spe... ORPHA:99750
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Immunodeficiency 115 With Autoinflammation
Recurrent viral infections, Eczematoid dermatitis, Intestinal lymphangiectasia, Splenomegaly, Sup... OMIM:620632
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Spastic diplegia, Retr... ORPHA:300605
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233710
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,... OMIM:261640
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Omenn Syndrome
Pneumonia, Severe B lymphocytopenia, Recurrent viral infections, Failure to thrive, Splenomegaly,... OMIM:603554
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Dystonia, Spastic ... ORPHA:280763
Immunodeficiency 46
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibod... OMIM:616740
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia,... OMIM:615122
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Recurrent fungal infections, B lymphocytopenia, Recurre... OMIM:616873
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dysphagia OMIM:617916
Follicular Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Meningitis, Mediastin... ORPHA:545
Glut1 Deficiency Syndrome 2
Reticulocytosis, Tremor, Splenomegaly, Ataxia, Dystonia, Hemolytic anemia, Choreoathetosis OMIM:612126
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy... OMIM:612840
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... ORPHA:391411
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinsonism, Hyperto... OMIM:619738
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Neutropenia, Hepatomegaly, Meningitis, Recurrent lower respi... OMIM:308230
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, ... OMIM:616719
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, ... ORPHA:443811
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressive behavior,... ORPHA:98764
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233690
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Spastic tetraplegia, Hypertonia OMIM:615282
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Cerebral palsy, Episcleritis, Splenomegaly, Hemiplegia/hemiparesis, Skin rash, He... ORPHA:36412
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ... ORPHA:169090
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Severe varicella zoster infection, Recurren... OMIM:606367
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dystonia ORPHA:329284
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Hepatitis, Failure to thrive, Conjunctivitis, Osteomyelitis, Skin ra... ORPHA:47
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing... OMIM:614104
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio... ORPHA:98813
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Dysphagia, Recurrent respiratory in... OMIM:159950
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal sign, Truncal a... ORPHA:247815
Wilson Disease
Hepatitis, Failure to thrive, Difficulty walking, Acute hepatitis, Hepatic steatosis, Splenomegal... ORPHA:905
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... OMIM:606693
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Spinocerebellar Ataxia Type 14
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infec... ORPHA:2688
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculation... OMIM:615157
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Perry Syndrome
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Leukodystrophy, Hypomyelinating, 11
Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Spasticity, Motor stereotypy, Failure to thrive OMIM:617393
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Clumsiness, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Fragile X Syndrome
Recurrent hand flapping, Abnormal head movements, Hyperactivity, Self-biting OMIM:300624
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Aplastic anemia, Leukemia, Periodontitis, Lymphopenia, Rec... ORPHA:486
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,... OMIM:612736
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Aspiration pneumonia ORPHA:141152
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Bruxism, Obesity, Tremor... OMIM:300055
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Recurrent enteroviral infections, Lymphadeniti... ORPHA:331206
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Failure to thrive, Tetraparesis, Antalgic gait, Tremor, Aggressive behavior OMIM:620546
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyramidal sign, Oculomoto... OMIM:617145
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi... OMIM:307200
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... OMIM:193670
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss, Polydipsia ORPHA:30925
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Failure to thrive, Absent circulating B cells, Seborrheic dermatitis, Thro... OMIM:619693
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Motor stereotypy,... OMIM:619317
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Sma... ORPHA:70594
Alexander Disease Type I
Spasticity, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Dysphagia, Palatal tremor ORPHA:363717
Isaacs Syndrome
Weight loss, Fasciculations ORPHA:84142
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Oculopharyngodistal Myopathy
Vocal cord paresis, Oral-pharyngeal dysphagia, Difficulty walking, Paraplegia, Loss of ambulation... ORPHA:98897
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,... ORPHA:79263
Neuroectodermal Melanolysosomal Disease
Spasticity, Tremor, Rigidity, Hypertonia, Ataxia, Recurrent respiratory infections ORPHA:33445
Chronic Hiccup
Abnormal eating behavior, Weight loss ORPHA:396
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Anemia, Thrombocytopenia, B lymphocytopenia, Recurrent b... ORPHA:169079
Xq28 (MECP2) duplication
Failure to thrive, Inability to walk, Gait ataxia, Motor stereotypy, Recurrent respiratory infect... DECIPHER:45
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
Holocarboxylase Synthetase Deficiency
Ataxia, Perioral eczema, Eczematoid dermatitis, Keratoconjunctivitis, Lethargy, Weight loss, Thro... ORPHA:79242
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Neutrophil... OMIM:618048
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent otitis media, Absent neutrophil specifi... OMIM:617475
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Lymphopenia... OMIM:616005
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Hijazi-Reis Syndrome
Ankle clonus, Motor stereotypy, Gait disturbance, Lower limb spasticity, Recurrent respiratory in... OMIM:301094
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia,... OMIM:618877
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... OMIM:613470
Phenylketonuria
Lower limb spasticity, Eczematoid dermatitis, Tremor, Ataxia ORPHA:716
Immunodeficiency 12
Recurrent viral infections, Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Abno... OMIM:615468
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Slender build, Chorea, Myoclonus, Recurrent hand flapping, Skin rash, Attention d... OMIM:617600
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology ORPHA:98848
Immunodeficiency 23
Allergic rhinitis, Bronchiectasis, Chronic mucocutaneous candidiasis, Recurrent respiratory infec... OMIM:615816
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Hsd10 Disease
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Dysphagia, Choreoathe... ORPHA:391417
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Scrub Typhus
Splenomegaly, Tremor, Infectious encephalitis, Skin rash, Lethargy, Lymphadenopathy, Myocarditis,... ORPHA:83317
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:100024
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Lethargy, Weight loss, Anorexia ORPHA:178029
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Rett Syndrome
Failure to thrive, Difficulty walking, Inability to walk, Bruxism, Cholecystitis, Stereotypical h... ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia OMIM:618587
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Inability to walk, Limb fasciculations, Tremor, Dysphagia ORPHA:90117
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Eczematoid dermatitis, Cerebral palsy, Attention deficit hyperactivity disorder, Repe... ORPHA:352490
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga... OMIM:616795
Immunodeficiency 10
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Autoimmu... OMIM:612783
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Abnormal B cell count, Hepatomegaly, Glomerulonephritis, Recurrent bacteri... OMIM:613496
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin... ORPHA:240071
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... OMIM:610185
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia OMIM:618387
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Gait disturbance, Dysphagia, Ataxia, Truncal ataxia, Unsteady g... OMIM:210000
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Christianson Syndrome
Inappropriate laughter, Gait ataxia, Motor stereotypy, Cachexia, Truncal ataxia, Dystonia, Dysphagia ORPHA:85278
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia OMIM:620158
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... OMIM:301081
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Gait ataxia, Tremor, Hypertonia, Ataxia, Motor stereotypy OMIM:619092
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Impulsivity, Parkinsonism, Parkinso... ORPHA:411602
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Recurrent otitis media,... OMIM:601495
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation OMIM:619405
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Leishmaniasis
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Weight loss, Lymp... ORPHA:507
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal moto... OMIM:613280
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Disinhibition, Babinski sign, Motor stereotypy, Dysphagia OMIM:612069
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Anorexia, Cirrhosis, Pancreatitis, Weight loss, Acholi... ORPHA:65682
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Tremor, Babinski sign, ... OMIM:302800
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Tremor, Increased body weight, Lethargy, Agitation ORPHA:276608
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Recurrent pneumonia, Splenomegaly, Hepatomegaly, Motor stereotypy OMIM:615637
Riboflavin Transporter Deficiency
Myoclonus, Tremor, Aggressive behavior, Cachexia, Ataxia, Dysphagia ORPHA:97229
Epilepsy With Eyelid Myoclonia
Abnormal head movements, Limb myoclonus ORPHA:139431
Nipah Virus Disease
Anorexia, Myoclonus, Tremor, Infectious encephalitis, Recurrent pharyngitis ORPHA:99825
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Inability to walk,... OMIM:312080
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss, Ataxia OMIM:613662
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent upper respiratory tract infections, Resting tremor, Progressive extrapyramidal muscular... ORPHA:225147
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Failure to thrive, Difficulty walking, Abnormality of coordina... ORPHA:442835
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Tremor, Biliary tract abnormality ORPHA:79234
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Cachexia, Acute infectious pneumonia, Recurrent Hae... ORPHA:60033
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Overweight, Motor stereotypy, ... ORPHA:457240
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Tremor, Decreased body weight, Aggressive behavior, Attention deficit hyperactivity diso... OMIM:618342
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Gait ataxia, Failure to thrive OMIM:612075
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia OMIM:224500
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism, Bra... OMIM:300894
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Rec... OMIM:214500
Spinocerebellar Ataxia, Autosomal Recessive 31
Bruxism, Tremor, Self-mutilation, Ataxia, Dystonia, Dysphagia, Choreoathetosis OMIM:619422
Glutathionuria
Action tremor, Eczematoid dermatitis, Dysdiadochokinesis, Tremor OMIM:231950
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Typhoid
Splenomegaly, Tremor, Infectious encephalitis, Skin rash, Lethargy, Hypertonia, Ataxia, Hepatomegaly ORPHA:99745
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Inability to walk, Tremor, Attention deficit hyperactivity disorder, Hypertoni... OMIM:619556
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Recurrent skin infections, Failure to thrive, Tremor OMIM:617744
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, ... OMIM:610984
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Gait ataxia, Myoclonus, Tremor,... ORPHA:363400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... OMIM:607483
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Obsessi... OMIM:300623
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy ORPHA:50251
Mohr-Tranebjaerg Syndrome
Shuffling gait, Generalized dystonia, Aspiration pneumonia, Inability to walk, Tremor, Ankle clon... ORPHA:52368
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Abnormality of the liver, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Cachexia, Hyperactivity, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Dysphagia, Choreoa... OMIM:233910
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... ORPHA:77297
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:306400
Spinocerebellar Ataxia 2
Ataxia, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysme... OMIM:183090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Recurrent viral infections, Severe B lymphocytopenia, Chronic muc... OMIM:102700
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia OMIM:617810
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss, Dysphagia ORPHA:2198
Ataxia-Telangiectasia
Spasticity, Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Tremor, Gait distur... ORPHA:100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Recurrent respiratory infections, Inability to walk, Bruxism, Chorea, Rigidity, Decreased body we... OMIM:300260
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor st... OMIM:617044
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Myoclonus,... OMIM:301310
Choreoacanthocytosis
Resting tremor, Limb dystonia, Acanthocytosis, Hair-pulling, Loss of ambulation, Parkinsonism, We... ORPHA:2388
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Gait distu... ORPHA:544254
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Limb hypertonia, Dysphagia, Tremor OMIM:617162
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ata... ORPHA:167
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Weig... ORPHA:33276
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypertonia, Tortic... OMIM:128100
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Tremor, Rigidity, Dystonia, ... OMIM:615530
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dyston... OMIM:607694
Pelizaeus-Merzbacher Disease
Spasticity, Failure to thrive in infancy, Dystonia, Cachexia, Gait disturbance, Ataxia, Recurrent... ORPHA:702
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Spasticity, Recurrent viral infections, Hepatitis, Eczematoid ... OMIM:620565
Sandifer Syndrome
Anemia, Esophagitis, Abnormal head movements, Torticollis ORPHA:71272
Whipple Disease
Uveitis, Polydipsia, Anorexia, Myoclonus, Splenomegaly, Infectious encephalitis, Myositis, Myocar... ORPHA:3452
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at... OMIM:608768
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Neuromuscular dysphagia, Difficulty walking, Hemiplegia, Spastic diplegia, T... ORPHA:206443
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Spasticity, Oculogyric crisis, Oral-pharyngeal dysphagia, Eyelid myoclon... ORPHA:208447
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Decreased circulating ... OMIM:619752
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fine motor coordin... ORPHA:36387
Immunodeficiency 31C
Bronchiectasis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Eczematoid d... OMIM:614162
Aicardi-Goutieres Syndrome 9
Spasticity, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Spastic... OMIM:619487
Rett Syndrome
Spasticity, Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexia, Gait apraxia, Truncal at... OMIM:312750
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... ORPHA:169154
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis ORPHA:411593
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
Rhabdoid Tumor
Cerebral palsy, Hemiplegia, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia... ORPHA:69077
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
4H Leukodystrophy
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... ORPHA:289494
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Ogden Syndrome
Shuffling gait, Abnormal head movements, Lethargy, Hypertonia, Torticollis ORPHA:276432
Spinocerebellar Ataxia With Epilepsy
Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... ORPHA:254881
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Restless legs, Rigidity, Bab... ORPHA:75567
Gm1 Gangliosidosis
Spasticity, Decerebrate rigidity, Generalized dystonia, Failure to thrive, Aspiration pneumonia, ... ORPHA:354
Aggressive Systemic Mastocytosis
Anorexia, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of ... ORPHA:98850
Myopathy With Extrapyramidal Signs
Difficulty walking, Chorea, Leukocytosis, Splenomegaly, Tremor, Abnormality of extrapyramidal mot... OMIM:615673
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Paroxysmal dystonia, Hemiparesis, Li... OMIM:618004
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit... ORPHA:51636
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Recurrent gram-neg... OMIM:116920
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:98773
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,... OMIM:266600
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Episodic ataxia, Myoclonus, Tremor, Lethargy, Dystonia, Choreoathetosis OMIM:312170
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Paraparesis, Tremor, Ataxia ORPHA:99014
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Recurrent lower respiratory tract inf... OMIM:612541
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Jerky head movements ORPHA:64280
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal pyramidal sign, Hypertonia,... ORPHA:96
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Thrombocytopenia, Neutropenia, Recurrent bacterial infections, Macrothrombocytopenia OMIM:603585
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:99868
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Slc35A1-Cdg
Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Me... OMIM:607115
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Parkinson Disease 21
Bradykinesia, Parkinsonism, Tremor, Rigidity OMIM:616361
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Weight loss, Keratoconjunctivitis sicca... OMIM:617321
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Periodic paralysis, Tremor OMIM:613239
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyel... ORPHA:171876
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia, Clumsiness, Hypert... ORPHA:137898
Spontaneous Periodic Hypothermia
Gait disturbance, Skin rash, Tremor, Ataxia ORPHA:29822
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Rat-Bite Fever
Sepsis, Lymphadenitis, Septic arthritis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocar... ORPHA:31205
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Chorea, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... OMIM:618935
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia ORPHA:542310
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Loss of ambulation, Babinski sign, Weight loss, Ataxia, Spastic ... ORPHA:3208
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ... ORPHA:54251
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... ORPHA:139402
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis,... OMIM:618849
48,Xxyy Syndrome
Obesity, Tremor, Attention deficit hyperactivity disorder, Ataxia, Recurrent respiratory infectio... ORPHA:10
Ddost-Cdg
Failure to thrive, Hepatic steatosis, Tremor, Recurrent ear infections, Oromotor apraxia ORPHA:300536
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Paraplegia, Lethargy, Ataxia, Hepatomegaly, Motor stereotypy, Agitation ORPHA:927
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recur... OMIM:301078
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Aspiration pneumonia, Loss of ambulation, Clumsiness, Parkinsonism, Moto... ORPHA:79264
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Bullous Pemphigoid
Recurrent infections, Weight loss, Psoriasiform dermatitis, Eczematoid dermatitis ORPHA:703
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Gait ataxia, Recurrent hand flapping, Opisthotonus, Attention deficit hyperact... OMIM:619580
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Lymphadenitis, Failure to thrive, Eczemato... OMIM:615895
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia, Hypertonia ORPHA:1389
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hy... ORPHA:824
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Weight loss, Glomerulonephritis, Anorexia, Recurrent mycoba... ORPHA:48435
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Aspiration pneumonia, Lymphopenia, Paraplegia, Leukop... OMIM:617053
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykine... OMIM:168600
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia, Ataxia, Thrombocytopenia, Se... OMIM:617710
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Recurrent otitis media, Speech apraxia, Obesity, Recurrent hand flapping, Tremor, A... OMIM:619680
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Tremor, Hyperkinetic movements, Gait disturbance, Truncal obesity, Increased body mas... OMIM:300957
Subacute Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Leukocytosis, Tremor, Steppage gait, Severe infection, Gait disturbance, Freq... ORPHA:206594
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Gait imbalance, Myoclonus, Abnormal eating behavior, Tr... ORPHA:98794
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Classic Phenylketonuria
Self-injurious behavior, Eczematoid dermatitis, Hemiplegia, Paraplegia, Tremor, Attention deficit... ORPHA:79254
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Spasticity, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation ORPHA:424
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
Desmoplastic Small Round Cell Tumor
Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Med... ORPHA:83469
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxia,... OMIM:620141
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Oculomotor apraxia, Ataxia, Truncal... OMIM:208920
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... ORPHA:101
Pyomyositis
Sepsis, Leukocytosis, Myositis, Weight loss, Recurrent infections, Recurrent cutaneous abscess fo... ORPHA:764
Acute Promyelocytic Leukemia
Anorexia, Chronic infection, Pancytopenia, Leukopenia, Leukocytosis, Addictive alcohol use, Weigh... ORPHA:520
Inflammatory Pseudotumor Of The Liver
Biliary tract abnormality, Neoplasm of the liver, Cirrhosis, Weight loss, Abnormal liver sonography ORPHA:90003
Q Fever
Pneumonia, Unusual infection, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the li... ORPHA:781
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Recurrent candida infections, Splenomegaly, Tremor, Lethargy, Ataxia, Hepatome... OMIM:201100
Focal Myositis
Myositis, Weight loss ORPHA:48918
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Failure to thrive, Recurrent hand flapping, Aggressive behavior, Attenti... OMIM:300986
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Recurrent viral infections, Recurrent urinary tract infections... ORPHA:221139
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, Abnormal ... OMIM:208900
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Eczematoid dermatitis, Obesity, Stereotypical hand wringing, Skin-pickin... OMIM:600430
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, ... ORPHA:765
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism, Resting tremor, Rigidity OMIM:614251
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... ORPHA:829
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ... OMIM:168601
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia,... ORPHA:282166
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Tremor, Fasciculations OMIM:313200
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Aspiration pneumonia, Action tremor, Abnormal pyramidal sign, Clonus, A... ORPHA:99027
Takayasu Arteritis
Increased inflammatory response, Inflammatory abnormality of the eye, Weight loss, Arthritis, Ano... ORPHA:3287
Peroxisome Biogenesis Disorder 5B
Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Spasticity, Difficulty walking, Gait ataxia, Dystonia, Motor stereotypy OMIM:617807
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss, Mediastinal lymphadenopathy, Abnormal proportion... ORPHA:133
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Babinski sign, Lethargy, Tongue thrus... OMIM:608643
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ... OMIM:300853
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
New-Onset Refractory Status Epilepticus
Abnormal head movements, Infectious encephalitis ORPHA:363558
Nodular Non-Suppurative Panniculitis
Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis ORPHA:33577
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Hypercalcemia, Infantile, 1
Lethargy, Weight loss, Failure to thrive OMIM:143880
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Inte... OMIM:616505
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ... ORPHA:228402
Anaplastic Thyroid Carcinoma
Weight loss, Dysphagia, Vocal cord paralysis, Lymphadenopathy ORPHA:142
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Spasticity, Poor hand-eye coordination, Failure to thrive, Speech apraxia, Aggr... OMIM:300352
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a... OMIM:614298
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Acanthocytosis, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal sign, At... OMIM:234200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Spasticity, Obesity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Poor coord... OMIM:618430
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Tremor, Babinski sign, Limb hypertonia, Dystonia, Dysphagia ORPHA:35708
Aceruloplasminemia
Blepharospasm, Involuntary movements, Abnormal pancreas morphology, Akinesia, Limb ataxia, Gait a... ORPHA:48818
Nocardiosis
Pneumonia, Unusual CNS infection, Sepsis, Brain abscess, Lymphadenitis, Cutaneous abscess, Kerati... ORPHA:31204
Niemann-Pick Disease, Type C2
Spasticity, Cataplexy, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Motor stereotypy, Atax... OMIM:607625
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Fatal Familial Insomnia
Weight loss, Myoclonus, Dysphagia, Ataxia OMIM:600072
Hirschsprung Disease
Failure to thrive in infancy, Sepsis, Weight loss ORPHA:388
Cystic Echinococcosis
Cholestatic liver disease, Unusual infection, Peritoneal abscess, Invasive parasitic infection, H... ORPHA:400
Familial Gestational Hyperthyroidism
Agitation, Weight loss, Hyperactivity, Hand tremor ORPHA:99819
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Leukocytosis, Eosinophilia, Weight loss, Anemia, Dysphagia ORPHA:2070
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia ORPHA:529665
Aicardi-Goutieres Syndrome 7
Tetraparesis, Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Tetraplegia, Hepatomegaly... OMIM:615846
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Recurrent urinary tract infections, Inability to walk, Obesity, Myoclonus, Tremor, St... OMIM:619229
Erythrokeratodermia Variabilis
Weight loss, Skin rash ORPHA:317
Progressive Supranuclear Palsy
Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia, Dysphagia, Impulsi... ORPHA:683
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Inability to walk, Tremor, Dystonia, Dysphagia, Choreoathetosis OMIM:617664
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Babinski sign, Scissor gait, Attention deficit hyperactivity disorder, Aggressive beha... OMIM:619121
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Gait disturbance ORPHA:157973
Ménétrier Disease
Helicobacter pylori infection, Weight loss, Hypochromic microcytic anemia, Anorexia, Giant hypert... ORPHA:2494
Behçet Disease
Hemiparesis, Abnormal pyramidal sign, Weight loss, Anorexia, Ataxia, Meningitis, Endocarditis, In... ORPHA:117
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Failure to thrive, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:620242
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Recurrent pneumonia, Hepatosplenomegaly, Motor stereotypy ORPHA:397612
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Cri-Du-Chat Syndrome
Recurrent infections in infancy and early childhood, Difficulty walking, Oppositional defiant dis... OMIM:123450
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Malt Lymphoma
Posterior uveitis, Weight loss, Lymphadenopathy, Anemia, Recurrent respiratory infections, Medias... ORPHA:52417
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus OMIM:618060
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Severe viral infection, Failure to thrive, Eczematoid dermatitis, Skin rash... ORPHA:79128
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Failure to thri... OMIM:300972
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Gait ataxia, Tremor, Self-mutilation, Aggressive behavior, Attention deficit h... ORPHA:476126
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Motor stereotypy, Glomerulonephritis, Ataxia OMIM:619428
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Enthesitis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Weight loss, ... ORPHA:85408
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Inability to walk, Myoclonus, Obsessive-compulsive trait, Aggressive behavior, Gait d... ORPHA:168491
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis ORPHA:86884
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Hepatomegaly, Juvenile rheumatoid arthritis,... ORPHA:85414
Budd-Chiari Syndrome
Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Weight loss, Hepatomega... ORPHA:131
Mannosidosis, Alpha B, Lysosomal
Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, Babinski sign, Hepatomegaly, Abnormal pyramid... OMIM:248500
Shwachman-Diamond Syndrome
Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ... ORPHA:811
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Recurrent pneumonia, Leukopenia, Myoclonus, Hepatic steatosis, Tremor, Hyperkinetic m... OMIM:616271
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Motor stereotypy, Myoclonus ORPHA:411986
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Keratitis, Episcleritis, Splenomegaly, Tremor, Hyperkinetic moveme... ORPHA:525731
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Recurrent viral infections, Poor hand-eye coordination, Otitis me... ORPHA:420741
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... ORPHA:199351
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Hemiplegia/hemiparesis, Increased inflammatory response, Myositis, Eosinophilia, Weigh... ORPHA:183
Oculopharyngodistal Myopathy 4
Postural tremor, Dysphagia, Tremor OMIM:619790
Triosephosphate Isomerase Deficiency
Normocytic anemia, Spasticity, Cholelithiasis, Failure to thrive, Cholecystitis, Tremor, Macrocyt... OMIM:615512
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit... OMIM:617388
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Tremor, Impaired tandem gait, Polyminimyoclonus, Dysphagia OMIM:619574
Pneumocystosis
Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Weight loss, Acute infectious pneumon... ORPHA:723
Beta-Ketothiolase Deficiency
Spasticity, Anorexia, Thrombocytosis, Leukocytosis, Agitation, Oral aversion, Weight loss, Ataxia... ORPHA:134
Graves Disease
Polyphagia, Weight loss, Hyperactivity OMIM:275000
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... ORPHA:53035
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Motor stereotypy ORPHA:530983
Non-Functioning Paraganglioma
Weight loss, Vocal cord paralysis, Tremor ORPHA:94080
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Speech apraxia, Obesity, Motor stereotypy, Attention deficit hyperactivity dis... ORPHA:261197
Citrullinemia Type Ii
Hepatic fibrosis, Decreased body mass index, Abnormal eating behavior, Hepatic steatosis, Tremor,... ORPHA:247585
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Gait imbalance, Restless legs, Tremor, Rigidity, Impulsivity, Dystonia,... ORPHA:2828
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Tremor, Dysmetria, Hypersegmentation of neutrophil nuclei OMIM:615578
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Anemia, Weight loss, Hepatomegaly, Recurrent respiratory infections ORPHA:1842
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, D... OMIM:617061
Cinca Syndrome
Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Anemia, Lymphadenopathy, Hepatom... ORPHA:1451
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Motor stereotypy, Hypertonia OMIM:619877
Smith-Magenis Syndrome
Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Hyperactivity, Self huggi... OMIM:182290
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Anorexia, Leukopenia, Thrombocytosis, Myoclonus, Spastic hemiparesis, Leukocytosis, L... ORPHA:20
Potocki-Lupski Syndrome
Failure to thrive, Oral-pharyngeal dysphagia, Hyperactivity, Motor stereotypy, Small for gestatio... OMIM:610883
Moynahan Syndrome
Cachexia ORPHA:2574
Pitt-Hopkins-Like Syndrome 1
Spasticity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia,... OMIM:610042
Secondary Short Bowel Syndrome
Sepsis, Failure to thrive, Cholestasis, Polyphagia, Weight loss, Enterocolitis ORPHA:95427
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Tay-Sachs Disease
Decerebrate rigidity, Laryngeal dystonia, Inability to walk, Incoordination, Fasciculations, Aspi... ORPHA:845
Rett Syndrome, Congenital Variant
Spasticity, Bruxism, Chorea, Apraxia, Tongue thrusting, Dystonia, Athetosis, Motor stereotypy OMIM:613454
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereot... OMIM:300912
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Tremor, Erythroderma, Lymphadenopathy, Hepatomegaly ORPHA:3162
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Bronchiectasis, Polysplenia, Recurrent otitis media, Chronic ... ORPHA:244
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy, Decreased body weight OMIM:618347
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Spasticity, Inability to walk, Failure to thrive in infancy, Cachexia, Hypertonia OMIM:616801
Listeriosis
Arteritis, Hemiparesis, Pustule, Ataxia, Jaundice, Meningitis, Endocarditis, Unusual CNS infectio... ORPHA:533
Radio-Tartaglia Syndrome
Obesity, Gait imbalance, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, D... OMIM:619312
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
Immunodeficiency 82 With Systemic Inflammation
Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, Anorexia, Recurrent s... OMIM:619381
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Dysphagia, Lymphadenopathy, Weight loss ORPHA:1332
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, Skin rash, Anemia, Arthritis, Hepatome... ORPHA:575
Transketolase Deficiency
Self-injurious behavior, Uveitis, Attention deficit hyperactivity disorder, Seborrheic dermatitis... ORPHA:488618
Cystinosis
Polydipsia, Failure to thrive, Portal hypertension, Gait disturbance, Abnormal pyramidal sign, Mo... ORPHA:213
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy, Tremor ORPHA:238750
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Malar rash, Splen... ORPHA:50918
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Recurrent viral infections, Sepsis, Small for gestational age, Necrotizing en... OMIM:619573
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Letterer-Siwe Disease
Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Stomatitis OMIM:246400
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Involuntary movements, Motor stereotypy, Paroxysmal dys... ORPHA:98784
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Cirrhosis, Weight loss, Anemia, Macrovesicular hepatic steatosis, Dysphagia ORPHA:298
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma ORPHA:312
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... ORPHA:284
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hyperactivity, Motor stereotypy OMIM:617751
Generalized Pustular Psoriasis
Cheilitis, Sepsis, Lymphopenia, Obesity, Leukocytosis, Palmoplantar pustulosis, Pustule, Erythrod... ORPHA:247353
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Lethargy, Cachexia, Ataxia, Hepatomegaly ORPHA:42
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Pancreatic islet-cell hyperplasia, Tremor, Increased hepatic glycogen ... ORPHA:263455
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620292
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Abnormal spleen physi... ORPHA:398063
Ritscher-Schinzel Syndrome 4
Chorea, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity OMIM:619435
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi... ORPHA:100086
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:95626
Pemphigus Vulgaris
Recurrent infections, Weight loss, Recurrent cutaneous abscess formation ORPHA:704
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Myoclonus, Weight loss, Ataxia, Anemia OMIM:256700
Niemann-Pick Disease Type C
Aspiration pneumonia, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal... ORPHA:646
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra... ORPHA:293173
Chromomycosis
Recurrent bacterial infections, Keratoconjunctivitis sicca, Keratitis, Lymphangiectasis ORPHA:182
Developmental And Epileptic Encephalopathy 66
Anemia, Broad-based gait, Motor stereotypy, Neutropenia OMIM:618067
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... ORPHA:449291
Agammaglobulinemia, X-Linked
Recurrent otitis media, Prostatitis, Neutropenia, Epididymitis, Pyoderma, Recurrent sinusitis, An... OMIM:300755
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Opportunistic infection, Cryptococcal meningitis, Intestinal lymphangiectasi... ORPHA:90362
Nephroblastoma
Neoplasm of the liver, Weight loss, Lymphadenopathy ORPHA:654
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Inability to walk, Inappropriate laughter, Obesity, My... ORPHA:72
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Inability to walk, Speech apraxia, Chorea, Esophagitis, Hepatic steatosis, Tr... OMIM:615356
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Sepsis, Hepatitis, Failure to thrive, Macrocytic anemia, Hashimoto thyroiditis... ORPHA:199299
Snijders Blok-Campeau Syndrome
Broad-based gait, Speech apraxia, Attention deficit hyperactivity disorder, Unsteady gait, Motor ... OMIM:618205
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia ORPHA:93941
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Involuntary movements, Motor stereotypy, Spasticity, Dysphagia ORPHA:572013
Shigellosis
Pneumonia, Sepsis, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Failure to... ORPHA:810
Wolman Disease
Splenomegaly, Anemia, Cachexia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Polymyositis
Gait disturbance, Weight loss, Arthritis, Anorexia, Hepatomegaly, Pericarditis ORPHA:732
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Aggressive behavior, Oculomotor apraxia, Hyperactivity, At... OMIM:612716
Giant Cell Arteritis
Anorexia, Recurrent pharyngitis, Weight loss, Arthritis, Ataxia, Meningitis, Mediastinal lymphade... ORPHA:397
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia, Hypertonia OMIM:250800
Acquired Hypertrichosis Lanuginosa
Weight loss, Lymphadenopathy ORPHA:2221
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Motor stereotypy OMIM:613443
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... OMIM:618825
Infantile Krabbe Disease
Spasticity, Decerebrate rigidity, Failure to thrive, Myoclonus, Ankle clonus, Opisthotonus, Cache... ORPHA:206436
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Spasticity, Cataplexy, Fasciculations, Tetraplegia, Dysphagia, Ataxia, Dysto... ORPHA:496641
Cystic Fibrosis
Decreased body mass index, Failure to thrive, Recurrent respiratory infections, Recurrent Aspergi... ORPHA:586
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Spasticity, Hepatic steatosis, Decreased body weight, Progressive spastic quadr... OMIM:619475
Hyperlysinemia
Poor motor coordination, Recurrent pneumonia, Tip-toe gait, Failure to thrive, Dysmetria, Tremor,... ORPHA:2203
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Splenomegaly, Lethargy, Cirrhosis, Weight loss, Cholangiocarcinoma, Arthriti... ORPHA:465508
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Compulsive behaviors, Severe temper tantrums, Motor stereo... OMIM:618027
Vici Syndrome
Recurrent viral infections, Chronic mucocutaneous candidiasis, Failure to thrive, Lymphopenia, Le... OMIM:242840
Cronkhite-Canada Syndrome
Splenomegaly, Anemia, Cachexia, Anorexia, Hepatomegaly ORPHA:2930
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Gait ataxia, Overfriendliness, Recurrent respiratory infections, Motor stereotypy OMIM:616579
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Erythema nodosum, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis OMIM:612387
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Periodic paralysis OMIM:188580
Celiac Disease, Susceptibility To, 1
Ataxia, Failure to thrive, Eczematoid dermatitis, Recurrent aphthous stomatitis, Macrocytic anemi... OMIM:212750
Cockayne Syndrome Type 2
Difficulty walking, Gait disturbance, Limb hypertonia, Lower limb spasticity, Ataxia, Hepatomegal... ORPHA:90322
Alternating Hemiplegia Of Childhood
Failure to thrive, Episodic hemiplegia, Tetraparesis, Oral-pharyngeal dysphagia, Anorexia, Chorea... ORPHA:2131
Peripheral Primitive Neuroectodermal Tumor
Weight loss, Pancreatitis, Torticollis, Anorexia, Anemia, Jaundice, Neoplasm of the pancreas ORPHA:370348
African Trypanosomiasis
Difficulty walking, Hepatosplenomegaly, Hemiparesis, Weight loss, Hepatomegaly, Jaundice, Choreoa... ORPHA:3385
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Failure to thrive, Recurrent urinary tract infections, Tremor, Aggressiv... OMIM:620494
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cerebral palsy, Aggressive behavior, Hypertonia, Motor stereotypy, Impul... OMIM:618914
Systemic Capillary Leak Syndrome
Leukocytosis, Weight loss, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... ORPHA:1333
Familial Colorectal Cancer Type X
Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Attention deficit hyperactivity disorder, Gait... ORPHA:440437
Joubert Syndrome 6
Hepatic fibrosis, Oculomotor apraxia, Ataxia, Motor stereotypy, Bile duct proliferation OMIM:610688
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Recurrent pneumonia, Motor stereotypy, Eczematoid dermatitis ORPHA:500159
Acrodermatitis Enteropathica
Failure to thrive, Pustule, Weight loss, Anorexia, Conjunctivitis, Cheilitis, Blepharitis ORPHA:37
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Recurrent lower respiratory tract infections, Motor stereotypy, Dysphagia OMIM:617802
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia ORPHA:1933
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent bronchitis, Overfriendliness, ... OMIM:619293
Neuroblastoma
Myoclonus, Antalgic gait, Weight loss, Lymphadenopathy, Thrombocytopenia, Ataxia, Anemia ORPHA:635
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Obesity, Tremor, Aggressive behavior, Cachexia, Hyperactivity ORPHA:85293
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Babinski sign, Spasticity, Cachexia OMIM:618186
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Familial Glucocorticoid Deficiency
Failure to thrive, Recurrent urinary tract infections, Weight loss, Tetraplegia, Anorexia, Recurr... ORPHA:361
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Hepatomegaly, Pancreatitis, Neutropenia,... OMIM:232220
Amyotrophic Lateral Sclerosis
Spasticity, Fasciculations, Babinski sign, Paralysis, Cachexia, Dysphagia, Agitation ORPHA:803
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy OMIM:616351
Bronchial Neuroendocrine Tumor
Pneumonia, Chronic noninfectious lymphadenopathy, Weight loss, Anorexia, Hepatomegaly ORPHA:97287
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Addictive behavior, Tip-toe gait, Decerebrate rigidity, Incoordinati... ORPHA:512
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Pica, Overweight, Motor stereotypy, Small for gestatio... OMIM:617796
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Chorea, Self-mutilation, Hyperkinetic movements, Motor stereotypy, Repetitive comp... ORPHA:522077
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Wei... ORPHA:97289
Smith-Magenis Syndrome
Self-injurious behavior, Failure to thrive in infancy, Obesity, Attention deficit hyperactivity d... ORPHA:819
Flynn-Aird Syndrome
Cachexia, Ataxia ORPHA:2047
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Self-biting ORPHA:3306
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Granulomatosis With Polyangiitis
Keratitis, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis m... OMIM:608710
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
Hydroxykynureninuria
Motor stereotypy, Stomatitis, Hypertonia ORPHA:79155
Reactive Arthritis
Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Recurrent... ORPHA:29207
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Aggressive behavior, Motor stereotypy, Hyperactivity ORPHA:391307
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor, Fasciculations ORPHA:99965
Bloom Syndrome
Recurrent infections, Cheilitis, Pneumonia, Recurrent tonsillitis, Recurrent urinary tract infect... ORPHA:125
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus, Failure to thrive ORPHA:2176
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Toxic Epidermal Necrolysis
Sepsis, Polydipsia, Weight loss, Pancreatitis, Neutropenia, Thrombocytopenia, Anemia, Conjunctivi... ORPHA:537
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Chorea, Malar rash, Weight loss, Lupus nephritis, Lymphadenopathy... ORPHA:536
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Cockayne Syndrome Type 1
Failure to thrive, Difficulty walking, Tremor, Anemia, Gait disturbance, Lower limb spasticity, A... ORPHA:90321
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Spasticity, Inability to walk, Limb dystonia, Limb hypertonia, Thrombocy... ORPHA:457351
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Punctate keratitis, Weight loss, Arthritis ORPHA:92050
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athetosis, Dy... ORPHA:25
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Small for gestational age, Compulsive behaviors OMIM:613174
Rift Valley Fever
Severe viral infection, Hepatitis, Skin rash, Hemiparesis, Infectious encephalitis, Paralysis, Pa... ORPHA:319251
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tr... ORPHA:100085
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Weight loss, Gl... ORPHA:99867
White-Sutton Syndrome
Self-injurious behavior, Failure to thrive, Obesity, Overfriendliness, Aggressive behavior, Hyper... OMIM:616364
Mcdonough Syndrome
Cachexia ORPHA:2471
Lysinuric Protein Intolerance
Hemophagocytosis, Failure to thrive, Hepatic amyloidosis, Hepatosplenomegaly, Leukopenia, Oral av... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Inflammation of the large intestine, Periodontitis, Failur... ORPHA:79259
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa... OMIM:601104
Alexander Disease
Self-injurious behavior, Spasticity, Failure to thrive, Chorea, Tremor, Infectious encephalitis, ... ORPHA:58
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Stevens-Johnson Syndrome
Sepsis, Abnormality of neutrophils, Weight loss, Pancreatitis, Thrombocytopenia, Anemia, Conjunct... ORPHA:36426
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior, Severe failure to thrive, Cachexia, Spastic tetraplegia ORPHA:371364
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:618527
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Failure to thrive, Knee osteoarthritis, Oligoarthritis, Arthritis, Uveitis ORPHA:85410
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Spasticity, Failure to thrive, Inappropriate laughter, Babinski sign, Hypertonia, Motor stereotypy OMIM:615802
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss, Bronchiectasis ORPHA:79127
Polyarteritis Nodosa
Weight loss, Pericarditis ORPHA:767
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Uveitis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hyp... ORPHA:171
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:603909
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Pancytopenia, Tremor, Lethargy, Anemia, Neutropenia, Thrombocytopenia, Hepatom... OMIM:251100
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Wei... OMIM:181000
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Motor stereotypy ORPHA:529965
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Perito... ORPHA:32960
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Spasticity, Gait ataxia, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Castleman Disease
Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy, Thrombocytopen... ORPHA:160
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Failure to thrive, Recurrent otitis media, Frequent temper... OMIM:619575
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Igg4-Related Aortitis
Increased inflammatory response, Hypereosinophilia, Weight loss ORPHA:449400
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Gait ataxia, Myoclonus, Dysmetria, Progressive gait ataxia, Babinski sign, Weig... OMIM:607459
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Hypertonia,... OMIM:212066
Intrahepatic Cholestasis Of Pregnancy
Cholecystitis, Tremor, Jaundice, Small for gestational age, Abnormality of the pancreas ORPHA:69665
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Inability to walk, Spastic ataxia, Oculomotor apraxia, Torticollis, Dystonia, Motor s... ORPHA:300570
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Aplasia/Hypopla... ORPHA:1727
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Motor stereotypy, Lower limb spasticity, Clonus, Hyperactivity, Myoclonic spasms, H... ORPHA:447997
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundi... ORPHA:499009
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Gait disturbance ORPHA:2774
Chromosome 15Q11.2 Deletion Syndrome
Juvenile rheumatoid arthritis, Clumsiness, Attention deficit hyperactivity disorder, Ataxia, Comp... OMIM:615656
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100082
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Recurrent urinary tract infections, Frequent temper tantrums, Attention deficit hyp... OMIM:619103
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons... OMIM:600802
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... ORPHA:103918
Diffuse Alveolar Hemorrhage
Anemia, Weight loss, Leukocytosis, Thrombocytopenia ORPHA:90060
Rauch-Steindl Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Aggressive behavior, Hyperactivity, Hepatom... OMIM:619695
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Erdheim-Chester Disease
Polydipsia, Osteomyelitis, Skin rash, Weight loss, Ataxia, Anemia, Retroperitoneal fibrosis ORPHA:35687
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly ORPHA:1133
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Neoplasm of the thymus, Chorea, Myoclonus, Rigidity, Op... ORPHA:217253
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Vocal cord paralysis, Tremor ORPHA:276621
Lyme Disease
Meningitis, Uveitis, Arthritis, Infectious encephalitis ORPHA:91546
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hepatosplenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatom... ORPHA:85450
Loeffler Endocarditis
Eosinophilia, Weight loss, Pericarditis ORPHA:75566
Pilarowski-Bjornsson Syndrome
Speech apraxia, Motor stereotypy OMIM:617682
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Constrictive pericarditis, Weight loss, Anemia, Acute colitis, Liver abscess ORPHA:67
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Failure to thrive, Aspiration pneumonia, Weight loss, Recurrent respiratory infections... ORPHA:1018
Granulomatosis With Polyangiitis
Hemiplegia, Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Weight loss, P... ORPHA:900
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Kleefstra Syndrome 1
Obesity, Aggressive behavior, Compulsive behaviors, Recurrent respiratory infections, Motor stere... OMIM:610253
Phelan-Mcdermid Syndrome
Broad-based gait, Bruxism, Aggressive behavior, Tongue thrusting, Unsteady gait, Recurrent infect... OMIM:606232
Cogan Syndrome
Keratitis, Episcleritis, Leukocytosis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt... ORPHA:1467
Pancreatoblastoma
Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology ORPHA:677
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Bainbridge-Ropers Syndrome
Self-injurious behavior, Failure to thrive, Inability to walk, Recurrent hand flapping, Hypertoni... OMIM:615485
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Broad-based gait, Cholelithiasis, Hepatic fibrosis, Abnormal temper tantrums,... ORPHA:2072
Renpenning Syndrome
Cachexia ORPHA:3242
Oculopharyngodistal Myopathy 1
Difficulty walking, Tremor, Weight loss, Ataxia, Dysphagia OMIM:164310
Microscopic Polyangiitis
Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art... ORPHA:727
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Abn... ORPHA:449395
Osteosarcoma
Weight loss ORPHA:668
Liposarcoma
Weight loss ORPHA:69078
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Portal hypertension, Splenomegaly, Portal vein thromb... ORPHA:729
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Glossopharyngeal Neuralgia
Weight loss, Vocal cord paralysis, Oral-pharyngeal dysphagia ORPHA:221098
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
2Q37 Microdeletion Syndrome
Eczematoid dermatitis, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, M... ORPHA:1001
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Kleefstra Syndrome
Self-injurious behavior, Obesity, Self-mutilation, Aggressive behavior, Recurrent respiratory inf... ORPHA:261494
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Obesity, Tremor, Respiratory paralysis, Paralysis, Weight loss, Tet... ORPHA:79102
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Aggressive behavior, Ataxia, Unsteady gait, Motor stereotypy ORPHA:457279
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss, Dysphagia, Allodynia OMIM:603041
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia ORPHA:435638
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis ORPHA:71493
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Recurrent pneumonia, Inability to walk, Decreased proportion of CD8-positive T cells, Lymphopenia... ORPHA:508533
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Failure to thrive, Recurrent respiratory infections, Eczematoid dermatitis, Episclerit... ORPHA:2273
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Biliary cirrhosis, Abnormality of body weight, Leukopenia, Skin rash, Decre... ORPHA:2298
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Developmental And Epileptic Encephalopathy 2
Inability to walk, Motor stereotypy, Myoclonus OMIM:300672
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Developmental And Epileptic Encephalopathy 100
Chorea, Myoclonus, Gait ataxia, Dysphagia, Recurrent respiratory infections, Motor stereotypy, Ch... OMIM:619777
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S... ORPHA:91500
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid arthritis, Psoriasiform dermatitis, Hashimoto thyroiditis, Weight l... ORPHA:49041
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Hypersplenism, Microvesicular hepatic st... ORPHA:275761
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Cachexia, Anorexia OMIM:175500
Neuroendocrine Tumor Of Stomach
Chronic noninfectious lymphadenopathy, Iron deficiency anemia, Weight loss, Anorexia, Hepatomegaly ORPHA:100075
Poems Syndrome
Polycythemia, Splenomegaly, Weight loss, Lymphadenopathy, Thrombocytosis, Hepatomegaly ORPHA:2905
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Vocal cord paralysis, Tremor ORPHA:29072
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Cachexia, Failure to thrive ORPHA:217346
Tetrasomy 12P
Cachexia ORPHA:884
Mucolipidosis Type Ii
Inability to walk, Hepatosplenomegaly, Splenomegaly, Otitis media, Weight loss, Recurrent respira... ORPHA:576
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Oligoarthritis, Ir... ORPHA:85436
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Failure to thrive, Apraxia, Weight loss, Ataxia, Reduced pancreatic beta c... ORPHA:99885
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Cachexia, Skin rash, Ataxia ORPHA:220295
White-Sutton Syndrome
Self-injurious behavior, Incoordination, Obesity, Aggressive behavior, Hyperactivity, Compulsive ... ORPHA:468678
Simple Cryoglobulinemia
Nephritis, Chronic lymphatic leukemia, Weight loss, Arthritis, Membranoproliferative glomerulonep... ORPHA:91139
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Obesity, Cholecystitis, Aggressive be... OMIM:301066
Al Amyloidosis
Howell-Jolly bodies, Abnormality of the liver, Anemia, Weight loss, Hepatomegaly, Dysphagia ORPHA:85443
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Weight loss, Obesity ORPHA:251071
Wilson Disease
Limb dystonia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaundice, Dysphagia, Portal fibrosis, ... OMIM:277900
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... ORPHA:728
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Recurrent acute respiratory tract infection, Salt craving, ... ORPHA:95409
Vitreoretinopathy, Neovascular Inflammatory
Uveitis OMIM:193235
Carney-Stratakis Syndrome
Weight loss, Dysphagia ORPHA:97286
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Jerky head movements ORPHA:369837
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Dysmetria, Aggressive behavior, Polyphagia, Hyperactivity, Coll... ORPHA:96121
Lynch Syndrome
Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Neoplasm of the liver, Gait disturbance, Abnor... ORPHA:144
Solitary Fibrous Tumor
Neoplasm of the liver, Weight loss, Abnormal peritoneum morphology ORPHA:2126
Juvenile Dermatomyositis
Skin rash, Myositis, Weight loss, Arthritis, Dysphagia, Pericarditis ORPHA:93672
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Synovitis, Arthritis, Erythema nodosum,... OMIM:186580
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Incontinentia Pigmenti
Spasticity, Keratitis, Skin rash, Hemiplegia/hemiparesis, Infectious encephalitis, Eosinophilia, ... ORPHA:464
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Self-mutilation, Decreased body weight, Attention deficit hyperactivity disorder, Thrombocytopeni... OMIM:619005
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia ORPHA:2479
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Eczematoid dermatitis, Gait disturbance, Hyperactivity, Recurrent infections, ... ORPHA:464306
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Uveitis, Lymphopenia, Abnormal lymphocyte morphology, Leuk... ORPHA:99826
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Recurrent pneumonia, Broad-based gait, Fixated interests, Eczematoid der... OMIM:620330
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia OMIM:617099
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Recurrent upper respiratory tract infections, Hip osteoarthritis, Oppos... ORPHA:580
Antiphospholipid Syndrome, Familial
Scleritis, Autoimmune thrombocytopenia, Keratitis, Iritis OMIM:107320
Glucagonoma
Intrahepatic cholestasis, Acanthocytosis, Neoplasm of the pancreas, Skin rash, Intermittent jaund... ORPHA:97280
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Bone marrow hypocellularity, Impaired T cell function ORPHA:1830
Malignant Atrophic Papulosis
Arteritis, Peritonitis, Weight loss ORPHA:679
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Obesity, Skin-picking, Attention deficit hyperactivity di... ORPHA:177907
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, Keratoconjunctivitis sicc... ORPHA:309031
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Attention deficit hyperactivity disorder, Gait disturbance, Recurrent infectio... ORPHA:464311
Cockayne Syndrome
Spasticity, Difficulty walking, Inability to walk, Malar rash, Action tremor, Splenomegaly, Progr... ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Spasticity, Eczematoid dermatitis, Hyperkinetic movements, Severe failur... ORPHA:468631
Nijmegen Breakage Syndrome
Recurrent pneumonia, Acute leukemia, Autoimmune hemolytic anemia, Attention deficit hyperactivity... ORPHA:647
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Tremor, Clonus, Neutropenia, Hypertonia, Jaundice, Dystonia, Dysphagia OMIM:617248
Juvenile Xanthogranuloma
Uveitis, Myeloproliferative disorder, Blepharitis, Iritis ORPHA:158000
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Failure to thrive, Recurrent otitis media, Stereotypical body rocking, Gait ata... ORPHA:513456
Addison Disease
Normocytic anemia, Thymoma, Failure to thrive, Thiamine-responsive megaloblastic anemia, Hashimot... ORPHA:85138
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Pitt-Hopkins Syndrome
Incoordination, Motor stereotypy, Self-injurious behavior, Gait ataxia OMIM:610954
Short Syndrome
Weight loss ORPHA:3163
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hand tremor, Gait ataxia, Dysmetria, Motor stereotypy, Attention deficit hypera... OMIM:614756
Camurati-Engelmann Disease
Anorexia, Slender build, Leukopenia, Splenomegaly, Anemia, Cachexia, Ataxia, Hepatomegaly, Waddli... ORPHA:1328
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Neoplasm of the thymus, Neoplasm of the pancreas, Inter... ORPHA:97261
Van Esch-O'Driscoll Syndrome
Spasticity, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Recurrent ... OMIM:301030
Orotic Aciduria
Impaired T cell function OMIM:258900
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Neoplasm of the pancreas, Intermittent jaundice, Weight... ORPHA:97278
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Recurrent urinary tract infections, Bruxism, Obesity, Polyphagia, Attention de... OMIM:615873
Somatostatinoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Gallbladder dysfunctio... ORPHA:97283
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Fasciitis, Pancytopenia, Weight loss, Keratoconjunctivitis sicca, A... ORPHA:99921
Kinsship Syndrome
Failure to thrive, Bruxism, Myoclonus, Spastic tetraparesis, Motor stereotypy OMIM:619297
Sarcoidosis
Bronchiectasis, Abnormal lymph node morphology, Parotitis, Leukopenia, Portal hypertension, Incre... ORPHA:797
Multiple Myeloma
Anemia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:29073
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Vipoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Neoplasm of the liver,... ORPHA:97282
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Gait ... OMIM:616268
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Weight loss, Keratoconjunctivitis sicca, Lymphadenopathy, Thrombocytopenia, Tubulointer... ORPHA:79078
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity ORPHA:813
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Septic arthritis, Fasciitis, Difficulty walking, Osteomyelitis, S... ORPHA:642
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Recurrent infections, Motor stereotypy, Obesity OMIM:618653
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Speech apraxia, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Truncal ataxia, Moto... OMIM:617330
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Aspiration pneumonia, Weight loss, Recurrent respiratory infections, Dysphagia ORPHA:2020
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Pneumonia, Abnormal fear-induced behavior, Failure to thrive, Recurrent ... ORPHA:353281
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Mo... OMIM:301040
Parathyroid Carcinoma
Polydipsia, Pancreatic adenocarcinoma, Weight loss, Pancreatitis, Dysphagia ORPHA:143
Xfe Progeroid Syndrome
Poor coordination, Cachexia, Failure to thrive OMIM:610965
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Erythroid hyperplasia, Splenomegaly, Scleritis, Keratoconjunctivitis, He... ORPHA:95159
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Periodontitis, Failure to thrive, Attention deficit hyperactivity disord... ORPHA:534
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Failure to thrive, Frequent temper tantrums, Hyperactivity, Compulsive b... OMIM:619512
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Leptospirosis
Uveitis, Hepatitis, Skin rash, Jaundice, Optic neuritis, Lymphadenopathy, Thrombocytopenia, Anore... ORPHA:509
Localized Scleroderma
Fasciitis, Esophagitis, Hashimoto thyroiditis, Arthritis, Uveitis ORPHA:90289
Hermansky-Pudlak Syndrome
Weight loss, Neutropenia, Anorexia ORPHA:79430
Wiedemann-Steiner Syndrome
Failure to thrive, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:319182
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisoc... ORPHA:79277
Dermatomyositis
Abnormal eosinophil morphology, Heliotrope rash, Skin rash, Myositis, Weight loss, Arthritis, Myo... ORPHA:221
1P36 Deletion Syndrome
Self-injurious behavior, Annular pancreas, Failure to thrive, Abnormality of the spleen, Abnormal... ORPHA:1606
Immunodeficiency 58
Decreased T cell activation, Decreased circulating antibody level, Decreased specific antibody re... OMIM:618131
Cystinosis, Nephropathic
Polydipsia, Failure to thrive, Exocrine pancreatic insufficiency, Failure to thrive in infancy, S... OMIM:219800
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Ogden Syndrome
Polycythemia, Eczematoid dermatitis, Recurrent otitis media, Microvesicular hepatic steatosis, Ir... OMIM:300855
Schwartz-Jampel Syndrome
Blepharospasm, Decreased body weight, Attention deficit hyperactivity disorder, Gait disturbance,... ORPHA:800
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Weight loss, Lymphadenopathy, Extrahepatic cholestasis ORPHA:100078
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Incontinentia Pigmenti
Spasticity, Keratitis, Leukocytosis, Eosinophilia, Maculopapular exanthema, Uveitis OMIM:308300
Oculodentodigital Dysplasia
Spasticity, Tetraparesis, Paraparesis, Ataxia, Uveitis OMIM:164200
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Neoplasm of the thymus, L... ORPHA:99889
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Fanconi Anemia
Recurrent urinary tract infections, Abnormality of the liver, Leukopenia, Weight loss, Thrombocyt... ORPHA:84
Tsh-Secreting Pituitary Adenoma
Weight loss, Periodic hypokalemic paresis, Tremor ORPHA:91347
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Anorexia ORPHA:1969
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Cachexia ORPHA:109
Zollinger-Ellison Syndrome
Jaundice, Weight loss, Esophagitis, Extrahepatic cholestasis ORPHA:913
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Pneumonia, Abnormal fear-induced behavior, Failure to thrive, Recurrent ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Pneumonia, Abnormal fear-induced behavior, Failure to thrive, Recurrent ... ORPHA:353277
Amoebic Keratitis
Scleritis, Anterior uveitis ORPHA:67043
Leprosy
Abnormality of the spleen, Abnormality of the liver, Steppage gait, Iritis, Uveitis ORPHA:548
Pauci-Immune Glomerulonephritis
Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ... ORPHA:93126
Trisomy 18
Cachexia, Hypertonia ORPHA:3380
Multiple Endocrine Neoplasia Type 1
Thymoma, Insulinoma, Lethargy, Weight loss, Anorexia, Neoplasm of the pancreas ORPHA:652
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Poor coordination, Motor stereotypy, Small for gestational age, Spastic diplegia OMIM:309590
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Weight loss, Bronchiectasis ORPHA:60025
Stickler Syndrome
Slender build, Hemiplegia/hemiparesis, Cachexia, Osteoarthritis, Recurrent respiratory infections... ORPHA:828
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Failure to thrive, Tremor, Truncal obesity, Motor stereotypy OMIM:612474
Norrie Disease
Self-injurious behavior, Failure to thrive, Attention deficit hyperactivity disorder, Cachexia, C... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Motor stereotypy ORPHA:508498
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Seckel Syndrome
Cachexia ORPHA:808
Juvenile Polyposis Of Infancy
Anemia, Cachexia, Refractory anemia ORPHA:79076
Hallermann-Streiff Syndrome
Abdominal situs inversus, Uveitis ORPHA:2108
Wolf-Hirschhorn Syndrome
Accessory spleen, Failure to thrive, Biliary tract abnormality, Motor stereotypy, Small for gesta... OMIM:194190
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Shuffling gait, Weight loss, Osteoarthritis ORPHA:740
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Motor stereotypy OMIM:616682
Marfan Syndrome
Slender build, Attention deficit hyperactivity disorder, Cachexia, Arthralgia/arthritis ORPHA:558
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Motor stereotypy, Hypertonia OMIM:301044
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Spasticity, Broad-based gait, Failure to thrive, Recurrent otitis media, Inability to walk, Bruxi... ORPHA:261537
Mowat-Wilson Syndrome
Broad-based gait, Spasticity, Recurrent otitis media, Inability to walk, Bruxism, Decreased body ... ORPHA:2152
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Weight loss, Acne, Failure to thrive ORPHA:90794
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567
Primrose Syndrome
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Truncal o... OMIM:259050
Proteus Syndrome
Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Cachexia, Recurrent infections, Lymphan... ORPHA:744
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response OMIM:619522
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Spasticity, Broad-based gait, Failure to thrive, Recurrent otitis media, Inability to walk, Bruxi... ORPHA:261552
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Uveitis OMIM:221900
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy, Failure to thrive OMIM:309000
Coffin-Siris Syndrome 12
Motor stereotypy, Failure to thrive OMIM:619325
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Goodpasture Syndrome
Anemia, Weight loss, Glomerulonephritis OMIM:233450
Retinoblastoma
Leukemia, Uveitis ORPHA:790
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly ORPHA:75565
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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