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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Ch├ędiak-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 thr