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Gene: Cyba MGI:1316658

Gene Summary

Name:

cytochrome b-245, alpha polypeptide

Synonyms:

p22 phox, cytochrome beta-558, b558

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
impaired righting response	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.23×10^-17
increased mean platelet volume	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.71×10^-06
persistence of hyaloid vascular system	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.21×10^-05
increased leukocyte cell number	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.25×10^-05
trunk curl	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.61×10^-13
cataract	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.25×10^-05
stereotypic behavior	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.65×10^-13
abnormal lens morphology	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.25×10^-05
abnormal gait	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.70×10^-05
decreased blood urea nitrogen level	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.57×10^-05
increased lean body mass	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.95×10^-06
decreased circulating amylase level	Cyba^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.58×10^-06

Download data as: TSV XLS

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images

Cyba^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

View all 70 images

Cyba^{tm1a(EUCOMM)Wtsi}
cataracts, HOM, Female, WTSI

Cyba^{tm1a(EUCOMM)Wtsi}
cataracts, HOM, Male, WTSI

Cyba^{tm1a(EUCOMM)Wtsi}
cataracts, HOM, Female, WTSI

Cyba^{tm1a(EUCOMM)Wtsi}
persistence of hyaloid vascular system, HOM, Female, WTSI

View all 13 images

Human diseases caused by Cyba 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.

Human diseases associated with Cyba (2 diseases)
Human diseases predicted to be associated with Cyba (896 diseases)

The table below shows human diseases associated to Cyba by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Granulomatous Disease, Chronic, Autosomal Recessive, 4		Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Chronic Granulomatous Disease		Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, S...	ORPHA:379

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

Disease	Matching phenotypes	Source
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Immunodeficiency 66	Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Otitis externa, Menin...	OMIM:618847
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Recurrent meningococcal disease, Recurrent Klebsiell...	OMIM:614372
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne...	OMIM:614868
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Immunodeficiency 102	Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Partial a...	OMIM:301082
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased...	OMIM:616740
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope...	OMIM:618986
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul...	ORPHA:33355
Neonatal Alloimmune Neutropenia	Pneumonia, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Mening...	ORPHA:464370
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
C1Q Deficiency 2	Chilblains, Pneumocystis carinii pneumonia, Discoid lupus rash, Atelectasis, Bronchiectasis, Seps...	OMIM:620321
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis	ORPHA:36237
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br...	OMIM:608957
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Scedosporiosis	Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni...	ORPHA:449280
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu...	ORPHA:183675
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis, Hearing impairment	OMIM:619599
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid...	OMIM:608971
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Specific Granule Deficiency 2	Absent neutrophil specific granules, Posteriorly rotated ears, Abnormal pinna morphology, Thrombo...	OMIM:617475
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, Increased circulating IgG...	ORPHA:443811
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Impaired vibratory sensation, Sensorineural hearing impairment, Acute lymphoblastic leukemia, Rec...	OMIM:610738
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Dysphagia, ...	OMIM:619565
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract, Ataxia	ORPHA:1397
Felty Syndrome	Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p...	ORPHA:47612
Immunodeficiency, Common Variable, 1	Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o...	OMIM:607594
Hypertrophic Neuropathy And Cataract	Cataract, Distal sensory impairment	OMIM:239900
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope...	OMIM:226990
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au...	OMIM:616100
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon...	OMIM:615122
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren...	OMIM:266265
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus...	OMIM:613860
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Chorea, Sepsis, Choreoathetosis, Anemia, Neutropenia, Pancreatitis, Thrombo...	ORPHA:289916
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr...	OMIM:300455
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis...	OMIM:614700
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf...	ORPHA:2686
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Sen...	ORPHA:47
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz...	OMIM:243700
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in...	ORPHA:169090
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ...	OMIM:608106
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp...	ORPHA:36238
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Myh9-Related Disease	Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts...	ORPHA:182050
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ...	OMIM:240500
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ...	OMIM:601457
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur...	OMIM:269840
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Ataxia, Sepsis, Recurrent infections, Recurre...	ORPHA:204
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral...	ORPHA:217390
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ...	OMIM:612260
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements, Chorea	OMIM:616939
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a...	OMIM:608636
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne...	OMIM:614063
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural...	OMIM:300400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Dysequilibrium Syndrome	Cataract, Ataxia, Gait disturbance	ORPHA:1766
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S...	OMIM:612840
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythrode...	ORPHA:169160
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Unusual skin infection...	ORPHA:31202
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re...	OMIM:613779
Spastic Paraparesis-Deafness Syndrome	Cataract, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:2815
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis...	ORPHA:397596
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Netherton Syndrome	Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, I...	OMIM:256500
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,...	ORPHA:70587
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re...	OMIM:612444
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia	ORPHA:71518
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Cough...	OMIM:616726
Neutropenia, Severe Congenital, X-Linked	Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio	OMIM:300299
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg...	OMIM:619220
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Cholangitis,...	OMIM:209920
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal r...	OMIM:619150
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Ataxia, Impaired T cell function, Pure red cell aplasia, ...	OMIM:613179
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, Re...	OMIM:602450
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, R...	OMIM:306400
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti...	OMIM:617862
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Legionnaires Disease	Pericarditis, Ataxia, Abnormal pleura morphology, Splenomegaly, Myocarditis, Abnormal lung morpho...	ORPHA:549
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne...	ORPHA:36234
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia...	OMIM:617514
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at...	ORPHA:251282
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Chronic Granulomatous Disease	Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, S...	ORPHA:379
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Sepsis, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatiti...	ORPHA:70578
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ...	OMIM:619470
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr...	OMIM:614069
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased T cell count...	ORPHA:98813
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Col...	ORPHA:37042
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms	OMIM:239500
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Developmental And Epileptic Encephalopathy 58	Inability to walk, Optic atrophy, Abnormal repetitive mannerisms	OMIM:617830
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie...	OMIM:601495
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi...	OMIM:615451
Immunodeficiency 23	Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG...	OMIM:615816
Omenn Syndrome	Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Erythroderma, Abnormal ...	ORPHA:39041
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir...	OMIM:612541
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp...	OMIM:618254
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Sensorineural hearing impairment, Agammaglobulinemia, Recurrent bacterial ...	OMIM:619693
Guanidinoacetate Methyltransferase Deficiency	Athetosis, Chorea, Ataxia, Abnormal head movements	ORPHA:382
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom...	ORPHA:533
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent pneumonia, Recurrent upper respiratory tract infection...	OMIM:615518
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Failure to thrive, Cataract, Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator...	OMIM:616005
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Pigmentary...	ORPHA:216866
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:300991
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Menin...	ORPHA:292
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Lamellar Ichthyosis	Recurrent respiratory infections, Sepsis, Abnormal helix morphology, Erythroderma, Chronic otitis...	ORPHA:313
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Ataxia, Splenomegaly, Se...	OMIM:613470
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop...	ORPHA:169079
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:608644
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In...	OMIM:301000
Posttransplant Acute Limbic Encephalitis	Ataxia, Sepsis	ORPHA:163921
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i...	OMIM:614172
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu...	OMIM:214500
Galactose Mutarotase Deficiency	Sepsis	ORPHA:570422
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Cog4-Cdg	Neonatal sepsis, Ataxia, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurr...	ORPHA:263501
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Meningococcal Meningitis	Neonatal respiratory distress, Skin rash, Sepsis, Paresthesia, Infectious encephalitis, Hearing i...	ORPHA:33475
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec...	OMIM:147060
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact...	OMIM:613496
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Bronchiectasis, Decreased proportion of class-switched memory B...	OMIM:619126
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Dystonia	OMIM:617820
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Sepsis, Coombs-positive hemol...	OMIM:614034
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Coloboma, Self-injurious behavior, Atte...	OMIM:617695
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Immunodeficiency 77	Nontuberculous mycobacterial pulmonary infection, Chronic pulmonary obstruction, Recurrent tonsil...	OMIM:619223
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ...	ORPHA:31204
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal...	ORPHA:167
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Bronchiectasis, Cheilitis, Recu...	OMIM:615468
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,...	ORPHA:811
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Inability to wal...	ORPHA:90117
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab...	OMIM:609425
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Classic Galactosemia	Ataxia, Abnormal erythrocyte enzyme level, Sepsis, Gait disturbance, Gait imbalance	ORPHA:79239
Alg1-Cdg	Respiratory failure, Sepsis, Recurrent infections	ORPHA:79327
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,...	OMIM:618282
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Immunodeficiency 108 With Autoinflammation	Epistaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Recurrent aphthous...	OMIM:260570
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect...	OMIM:611884
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Inability to walk, Thrombocytopenia, Sple...	OMIM:617303
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Recurrent viral i...	ORPHA:293978
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Sepsis, Leukopenia, Increased ci...	ORPHA:319218
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Ventilator-Induced Diaphragmatic Dysfunction	Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Sev...	ORPHA:505395
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Neonatal sepsis, Inability to walk, Sensorineural hearing impairment, Recurrent infections	OMIM:614739
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit...	OMIM:615481
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi...	OMIM:606367
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Ataxia, Skin rash, Splenomegaly, Sensorineural hearing impairment, Dyspnea, Meningi...	ORPHA:36412
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia	OMIM:618660
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Absent circulating B cells, R...	OMIM:620282
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension, Sepsis	OMIM:619059
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Lassa Fever	Dyspnea, Sepsis, Increased circulating IgM level, Conjunctivitis, Cough, Hearing impairment	ORPHA:99824
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Sepsis, Recurrent infections	ORPHA:764
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis...	OMIM:615207
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ...	OMIM:618917
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove...	ORPHA:723
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Leukoencephalopathy With Vanishing White Matter 2	Unsteady gait, Cataract, Optic atrophy	OMIM:620312
Hirschsprung Disease	Sensorineural hearing impairment, Sepsis	ORPHA:388
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Dec...	OMIM:102700
Chorea, Remitting, With Nystagmus And Cataract	Chorea, Cataract	OMIM:601372
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Morm Syndrome	Hyperactivity, Cataract, Retinal atrophy, Aggressive behavior, Truncal obesity	ORPHA:75858
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i...	ORPHA:906
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Loss of ambulation, Retina...	OMIM:204200
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Sepsis, N...	ORPHA:2552
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella...	OMIM:224050
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Sensorineural hearing impairment, Aspiration pneumonia	OMIM:609528
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv...	OMIM:618218
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocyt...	ORPHA:3392
Idiopathic Achalasia	Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough	ORPHA:930
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Acquired Purpura Fulminans	Skin rash, Sepsis, Thrombocytopenia	ORPHA:49566
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m...	OMIM:618718
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem...	OMIM:610984
Generalized Pustular Psoriasis	Pustule, Leukocytosis, Cheilitis, Uveitis, Sepsis, Arthritis, Palmoplantar pustulosis, Erythroder...	ORPHA:247353
Rigid Spine Syndrome	Waddling gait, Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Mirage Syndrome	Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, A...	OMIM:617053
Xeroderma Pigmentosum, Complementation Group G	Tremor, Cataract, Ataxia, Small for gestational age	OMIM:278780
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Aspergillosis	Sinusitis, Cough, Neutropenia, Infectious encephalitis, Meningitis, Chronic pulmonary obstruction...	ORPHA:1163
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Cataract 11, Multiple Types	Chorea, Cataract, Developmental cataract	OMIM:610623
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet gl...	OMIM:603585
Hijazi-Reis Syndrome	Astigmatism, Gait disturbance, Hyperbilirubinemia, Abnormal repetitive mannerisms, Iris coloboma	OMIM:301094
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Foxg1 Syndrome	Dystonia, Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Decreased body weight,...	ORPHA:561854
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Dysto...	OMIM:600795
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro...	OMIM:603554
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre...	OMIM:242700
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Immunodeficiency 92	Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremia, Leukocytosi...	OMIM:619652
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Primary Ciliary Dyskinesia	Asplenia, Conductive hearing impairment, Chronic otitis media, Neonatal respiratory distress, Res...	ORPHA:244
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas...	OMIM:612649
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu...	ORPHA:228119
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Sensorineural hearing impairment, Sepsis	ORPHA:544503
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Pneumonia	ORPHA:85179
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Pigmentary retinopath...	OMIM:614307
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Huntington Disease-Like 1	Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Gait disturbance, Jerky head movements	ORPHA:157941
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, B...	OMIM:128100
Lopes-Maciel-Rodan Syndrome	Dystonia, Tremor, Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Microlissencephaly	Pneumonia	ORPHA:1083
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn...	OMIM:608647
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez...	OMIM:613807
Lathosterolosis	Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He...	OMIM:607330
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia, Optic atrophy, Ataxia	OMIM:616737
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Asthma, Increased circulating IgE lev...	OMIM:619752
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Postural tremor, Impaired distal proprioception, Optic atrophy, Impaired vibration sens...	OMIM:270800
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Shigellosis	Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Sepsis, Uveitis, Ulcer...	ORPHA:810
Cdkl5-Deficiency Disorder	Impaired pain sensation, Gait disturbance, Inappropriate laughter, Difficulty walking, Bruxism, S...	ORPHA:505652
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n...	OMIM:617092
Peroxisome Biogenesis Disorder 8B	Cataract, Ataxia, Dysesthesia, Unsteady gait, Optic atrophy, Elevated circulating phytanic acid c...	OMIM:614877
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis	OMIM:609536
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613808
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Protruding ear, Recurrent aspiration pneumonia, Neonatal respiratory ...	ORPHA:221139
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron...	OMIM:604571
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Waddling gait, Respiratory insufficiency due to ...	ORPHA:2590
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Dystonia, Dysphagia	OMIM:304700
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto...	ORPHA:98848
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections	OMIM:618648
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve...	OMIM:618523
Alg12-Cdg	Recurrent respiratory infections, Abnormal pinna morphology, Partial absence of specific antibody...	ORPHA:79324
Alpha-Mannosidosis, Adult Form	Mixed hearing impairment, Pancytopenia, Ataxia, Pneumonia, Hepatosplenomegaly, Recurrent infectio...	ORPHA:309288
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Overweight, Difficulty walking, Dystonia, Abnormal repetitive mannerisms	ORPHA:280763
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections...	OMIM:618495
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte...	OMIM:620141
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Huntington Disease-Like 3	Abnormal head movements, Chorea, Broad-based gait, Progressive gait ataxia	ORPHA:157946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Inability to walk, Cataract, Ataxia, Elevated circulating creatine kinase concentration	OMIM:615350
Immunodeficiency 67	Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Inhalational Anthrax	Respiratory distress, Dyspnea, Sepsis	ORPHA:247257
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Hyperphenylalaninem...	OMIM:261600
Atypical Rett Syndrome	Restrictive behavior, Impaired pain sensation, Tremor, Inability to walk, Tongue thrusting, Gait ...	ORPHA:3095
Stevens-Johnson Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Abnormal pleura morphology, Thrombo...	ORPHA:36426
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Somatic sensory dysfunction, Jerky head movements	ORPHA:240103
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Posteriorly rotated ears, Reduced natur...	OMIM:608233
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ...	OMIM:613193
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619690
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre...	OMIM:616037
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Optic disc drusen, Pigmentary retinopathy, Eye poking, Hyperthreoninemia	OMIM:204000
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Short Stature, Developmental Delay, And Congenital Heart Defects	Developmental cataract, Self-injurious behavior, Attention deficit hyperactivity disorder, Compul...	OMIM:617044
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Dystonia, Oculogyric crisis, Inability to walk, Chorea, Self-injurious behavior, Inappropriate la...	OMIM:614254
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec...	OMIM:617091
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Inability to walk, Thrombocytopenia, Seps...	ORPHA:505248
Desmoid Tumor	Sepsis	ORPHA:873
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Failure to thrive in infancy, Anemia	OMIM:611209
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Pigmentary retinopathy, Eye poking	OMIM:204100
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Sepsis, Normochromic anemia	ORPHA:247691
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Conductive he...	OMIM:244400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Immunodeficiency 40	Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic...	OMIM:616433
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut...	OMIM:615516
Sepsis In Premature Infants	Neonatal sepsis, Disseminated viral infection, Abnormal mucociliary clearance, Splenomegaly, Leuk...	ORPHA:90051
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Cough, Sepsis...	ORPHA:537
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,...	OMIM:614104
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms	OMIM:619317
Riddle Syndrome	Ataxia, Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Recurrent pneumonia...	ORPHA:420741
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Pyruvate Dehydrogenase E2 Deficiency	Choreoathetosis, Ataxia, Jerky head movements	OMIM:245348
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia, Hearing impairment	OMIM:619057
Necrotizing Enterocolitis	Neonatal sepsis, Apnea, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia	ORPHA:391673
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Autosomal Recessive Spastic Paraplegia Type 26	Cataract, Pseudobulbar paralysis, Gait disturbance, Dystonia, Impaired vibration sensation at ankles	ORPHA:101006
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Macular degeneration, Progr...	ORPHA:284289
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Self hugging, I...	OMIM:182290
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im...	OMIM:618063
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Dystonia-Deafness Syndrome 1	Cataract, Generalized dystonia, Oculogyric crisis, Small for gestational age, Leg dystonia, Pseud...	OMIM:607371
Christianson Syndrome	Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repe...	ORPHA:85278
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Cln3 Disease	Cataract, Ataxia, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopa...	ORPHA:228346
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasi...	OMIM:613490
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Bruxism, Choreoathetosis, Dystonia, Stereotypical hand wringing	OMIM:618497
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Cataract, Abnormal repetitive mannerisms	OMIM:619877
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Chorea, Titubation, Gait ataxia, Gait disturbance, Dysphagia, Abnormal ...	ORPHA:225147
Pellagra-Like Syndrome	Cataract, Ataxia	OMIM:260650
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms	DECIPHER:45
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Cataract, Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia	OMIM:618805
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Acute Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Neonatal sepsis, Abnormal auditory evoked potentials, Sensorineu...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Neonatal sepsis, Abnormal auditory evoked potentials, Sensorineu...	ORPHA:529808
Plague	Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Unst...	ORPHA:707
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Obesity, Choreoathetosis, Shuffling gait,...	OMIM:300055
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Astigmatism, Neutropenia, Abnormal repetitive mannerisms, Anemia	OMIM:618067
Developmental And Epileptic Encephalopathy 67	Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia	OMIM:618141
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Optic atrophy, Bruxism, Choreoathetosis, Dysphagia, Self-mutilation	OMIM:619422
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Intellectual Developmental Disorder, Autosomal Recessive 79	Intention tremor, Broad-based gait, Tongue thrusting, Gait ataxia	OMIM:620393
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Idiopathic Pulmonary Fibrosis	Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f...	ORPHA:2032
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Ataxia, Recurrent aspiration pneumonia	OMIM:619971
Rett Syndrome	Increased serum pyruvate, Inability to walk, Hyperammonemia, Agitation, Gait disturbance, Difficu...	ORPHA:778
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Atelectasis, Dyspnea, P...	ORPHA:2357
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Cleft Velum	Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Fragile X Syndrome	Abnormal head movements, Macrotia	OMIM:300624
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe...	OMIM:619725
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Vertigo, Hepatitis, Sepsis, Hashimoto thyroid...	ORPHA:199299
Secondary Short Bowel Syndrome	Sepsis, Enterocolitis	ORPHA:95427
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Abnormal repetitive mannerisms	OMIM:619092
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Low-set...	OMIM:242860
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammagl...	OMIM:619705
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug...	ORPHA:411511
Immunodeficiency 10	Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections	OMIM:612783
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Syndromic Diarrhea	Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus...	ORPHA:84064
Calciphylaxis	Sepsis	ORPHA:280062
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Ataxia, Truncal titubation, Impaired vibration...	ORPHA:88628
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A...	ORPHA:352490
Neuroleptic Malignant Syndrome	Pulmonary embolism, Leukocytosis, Chorea, Sepsis, Aspiration pneumonia, Thrombocytosis, Thrombocy...	ORPHA:94093
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Astigmatism, Gait disturbance, Obs...	ORPHA:168491
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Ataxia, Optic atrophy, Dysmetria, Distal sensory impairment, Subcapsular cataract, Inte...	OMIM:612674
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Ataxia, Broad-based gait, Optic atrophy, Impai...	OMIM:609033
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, De...	OMIM:618342
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho...	ORPHA:79124
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Decreased specific antibody response to polysacch...	OMIM:241600
Bloom Syndrome	Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased...	ORPHA:125
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
Radiation Proctitis	Sepsis, Rectal abscess, Arteritis	ORPHA:70475
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Inability to walk, Sensorineur...	ORPHA:52368
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Fail...	ORPHA:927
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Optic atrophy, Gait ataxia, Difficulty walking, Dystonia, Abnormal repetitive m...	OMIM:617807
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary r...	OMIM:222300
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ...	ORPHA:2334
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Recurrent hand flapping, Attention deficit hyperactivity disorder, Astigmatism, Compulsive behaviors	OMIM:620021
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Ataxia	ORPHA:3233
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Increased circulating IgA level, Asthma, Increased circulating IgE level, Pleura...	OMIM:619632
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar...	OMIM:612387
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Postinfectious Vasculitis	Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B...	ORPHA:48435
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Peroxisome Biogenesis Disorder 12A (Zellweger)	Sepsis	OMIM:614886
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Tremor, Gait disturbance, Abnormality of pain sensation, Recurr...	ORPHA:544254
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter...	OMIM:620296
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore...	OMIM:619580
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Ataxia, Elevated circulating creatine...	OMIM:610377
Ogden Syndrome	Abnormal head movements, Pulmonary artery stenosis, Shuffling gait, Low-set ears, Macrotia	ORPHA:276432
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr...	OMIM:617302
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox...	ORPHA:228402
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Self-injurious behavior, Bruxism, Abnor...	OMIM:618004
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi...	OMIM:600430
Cri-Du-Chat Syndrome	Hyperactivity, Cataract, Small for gestational age, Aggressive behavior, Optic atrophy, Difficult...	OMIM:123450
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re...	OMIM:620197
Jeavons Syndrome	Abnormal head movements	ORPHA:139431
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Sepsis, Recurrent infections, Decreased circulating antibody level, An...	ORPHA:79396
Cystinosis	Corneal opacity, Hypokalemia, Gait disturbance, Hypophosphatemia, Polydipsia, Failure to thrive, ...	ORPHA:213
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Difficulty walk...	ORPHA:98897
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Sepsis, Difficulty walking	ORPHA:158668
New-Onset Refractory Status Epilepticus	Abnormal head movements, Infectious encephalitis	ORPHA:363558
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Chronic pul...	ORPHA:411703
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attent...	OMIM:300986
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes...	ORPHA:98794
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Vici Syndrome	Lymphopenia, Cataract, Macular atrophy, Elevated circulating creatine kinase concentration, Ocula...	OMIM:242840
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D...	ORPHA:79404
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body we...	OMIM:618347
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Impaired pain sensation, ...	ORPHA:819
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms	ORPHA:530983
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Splenomegaly, Sepsis, Bilateral sensorineural hearing...	OMIM:619418
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Hypoplasia of the ear cartilage	ORPHA:66661
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Optic atrophy, Increased mean platelet volume	ORPHA:487796
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen...	ORPHA:98850
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Dysphagia, Loss of ambulation, Abnormal repetitive man...	ORPHA:79264
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Polydip...	OMIM:615986
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Caroli Syndrome	Liver abscess, Cholangitis, Hypersplenism, Leukocytosis, Sepsis, Leukopenia, Pancreatitis, Thromb...	ORPHA:480520
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Repetitive compulsive behavior, Inability to walk, Chorea, Bruxism, D...	OMIM:300260
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Cataract, Chorea, Abnormal circulating creatine kinase concentration, Difficulty w...	ORPHA:369840
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl...	OMIM:617600
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Astigmatism, Attention deficit hyperactivity disorder, Abnormal ...	OMIM:618205
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Ataxia, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Ab...	ORPHA:2479
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Sensorineural hearing impairment, Vacuolated lymphocytes, Limb ataxia, Gait ataxia,...	OMIM:248500
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract, Dysmetria, Dysphagia	OMIM:619780
Angelman Syndrome	Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tre...	ORPHA:72
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration, Gait disturbance	ORPHA:588
Brucellosis	Liver abscess, Bronchitis, Chorea, Knee osteoarthritis, Leukopenia, Increased circulating IgG lev...	ORPHA:1304
Sandifer Syndrome	Esophagitis, Anemia, Abnormal head movements	ORPHA:71272
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure...	ORPHA:95455
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Recurrent abscess ...	OMIM:619381
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy...	OMIM:310600
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma...	OMIM:618430
Q Fever	Respiratory distress, Cholecystitis, Cough, Meningitis, Infectious encephalitis, Maculopapular ex...	ORPHA:781
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia, Loss of ambu...	OMIM:618253
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Hypocholesterolemia, Failure...	OMIM:610883
Endove Syndrome, Limb-Only Type	Neonatal sepsis	OMIM:619217
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod...	OMIM:617865
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Ataxia, Abnormal auditory evoked potentials, Head titubation,...	ORPHA:99027
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit...	ORPHA:208447
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Thyroiditis, Tubulointe...	ORPHA:139402
Transketolase Deficiency	Cataract, Self-injurious behavior, Conjunctivitis, Compulsive behaviors, Attention deficit hypera...	ORPHA:488618
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso...	ORPHA:313892
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax...	OMIM:617101
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms	OMIM:613443
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Cardiorespiratory arrest, Erythroderma	ORPHA:280785
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod...	ORPHA:79126
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Myopic astigmatism, Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Ataxia-Telangiectasia	Lymphopenia, Sinusitis, Ataxia, Recurrent bronchitis, Inability to walk, Decreased circulating Ig...	OMIM:208900
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Tremor, Impaired distal vibration sensation, Pseudobulbar paralysis, Gait disturbance	OMIM:616586
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Cho...	ORPHA:1855
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Lens coloboma, Self-injurious behavior, Abnormal repetitive man...	OMIM:618914
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold...	ORPHA:586
Timothy Syndrome	Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections	OMIM:601005
Ciliary Dyskinesia, Primary, 37	Hearing impairment, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea	OMIM:617577
Menkes Disease	Chorea, Osteomyelitis, Sepsis	ORPHA:565
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:411986
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
48,Xxyy Syndrome	Ataxia, Tremor, Obesity, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms	ORPHA:10
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee...	ORPHA:79128
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Ataxia, Inability to walk, Recurrent infections, Recurrent aspirat...	ORPHA:79243
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Thrombocytopenia, Dysmetria, Developmental cataract, Att...	OMIM:620185
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough	OMIM:615434
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Lymphopenia, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis, Pneumonia	ORPHA:90790
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Small for gestational age, Overweight, Pica, Astigmatism, Obsessive-compulsive tra...	OMIM:617796
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough	OMIM:604809
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Limb dystonia,...	ORPHA:93958
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Gait imbalance, Attention deficit hype...	OMIM:619312
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Elevated circulating creatine concentration, Gait disturba...	OMIM:300352
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica...	OMIM:300912
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Cataract, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Splenomegal...	OMIM:608885
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati...	ORPHA:70588
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob...	OMIM:212550
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Self-injurious behavior, Astigmatism, Compulsive behaviors, Abnormal r...	OMIM:613174
Currarino Syndrome	Perianal abscess, Recurrent urinary tract infections, Sepsis	OMIM:176450
Cataract 47	Microcornea, Cataract	OMIM:612018
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Anorexia, Cachexia, Hypokalemia, Paresthesia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Rhinorrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kera...	OMIM:158310
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Pigmentary retinopathy	ORPHA:79095
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:614162
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Recurrent bacterial infections, Inflammation o...	OMIM:615895
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Rest...	OMIM:607944
White-Sutton Syndrome	Waddling gait, Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Obesity, Self-injuriou...	OMIM:616364
Liver Disease, Severe Congenital	Status asthmaticus, Chronic gastritis, Recurrent urinary tract infections, Eczema, Pneumonia, Thr...	OMIM:619991
Houge-Janssens Syndrome 3	Self-injurious behavior, Megalocornea, Abnormal repetitive mannerisms, Attention deficit hyperact...	OMIM:618354
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli...	ORPHA:228123
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne...	OMIM:619435
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Sepsis	OMIM:619362
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Dysesthesia, ...	ORPHA:79138
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Anterior Cutaneous Nerve Entrapment Syndrome	Somatic sensory dysfunction, Anorexia, Leukocytosis, Impaired tactile sensation, Hyperesthesia, D...	ORPHA:51890
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Sensorineural hearing impairment, Decreased ci...	OMIM:300972
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, High nonceruloplasmin-bound serum copper, Limb dyston...	ORPHA:457351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El...	OMIM:614643
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Attention def...	ORPHA:401777
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cer...	ORPHA:67036
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Bruxism, Agitation, Gait disturbance, Dystonia, Recurrent hand flapping	OMIM:617903
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypoxemia, Recurrent bacterial ...	OMIM:603903
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Dilated Cardiomyopathy With Ataxia	Ataxia, Repetitive compulsive behavior, Optic atrophy, Hypochromic microcytic anemia, Normochromi...	ORPHA:66634
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Loss of ambulation, Restrictive ventilatory defect, Pneumonia	OMIM:253700
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Wheezing, Abnormal pulmonar...	OMIM:620233
X-Linked Dystonia-Parkinsonism	Chorea, Shuffling gait, Difficulty walking, Aspiration pneumonia	ORPHA:53351
Chromomycosis	Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Abnormal lung morphology	ORPHA:182
4Q21 Microdeletion Syndrome	Tremor, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Astigmatism, Attention deficit h...	OMIM:619680
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Choreoathetosis, Pancreatitis, Nonprogressive cerebellar ataxia, Aspiration pneumonia	ORPHA:431361
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Attention deficit hyperactivity disorder...	ORPHA:476126
Joubert Syndrome 6	Ataxia, Retinal degeneration, Abnormal repetitive mannerisms, Chorioretinal coloboma	OMIM:610688
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D...	OMIM:617061
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia, Head tremor	OMIM:619428
Ctcf-Related Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Cupped ear, Sepsis, Recurrent infections, Pulmonary arterial h...	ORPHA:363611
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
Rett Syndrome	Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Stereotypical hand wringing	OMIM:312750
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Decreased serum iron, Overweight, Repetitive compulsive behavior, Attention deficit hyperactivity...	ORPHA:391372
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Iris hypopigmentation	ORPHA:98795
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Coloboma, Tics, Compulsive behaviors, Chorioretinal coloboma, Juvenile cataract, Decreased body w...	OMIM:619475
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Astigmatism, Abnormal temper tantrums, Abnormal repet...	ORPHA:457279
Aniridia 3	Aniridia, Cataract	OMIM:617142
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronch...	ORPHA:391487
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Gm1 Gangliosidosis	Recurrent respiratory infections, Ataxia, Splenomegaly, Unsteady gait, Hepatosplenomegaly, Gait d...	ORPHA:354
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Low-set ears, Aspiration pneum...	ORPHA:314655
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Sepsis	ORPHA:2241
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Cataract, Ataxia, Elevated circulating creatine kinase concentration, Dystonia, Tr...	OMIM:615356
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Failure to thrive, ...	OMIM:620242
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Niemann-Pick Disease, Type C2	Ataxia, Bone-marrow foam cells, Splenomegaly, Dysphagia, Sea-blue histiocytosis, Dystonia, Abnorm...	OMIM:607625
Infantile Neuroaxonal Dystrophy	Ataxia, Unsteady gait, Apneic episodes in infancy, Gait disturbance, Aspiration pneumonia	ORPHA:35069
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ataxia, Abnormality of neutrophils, Ocular albinism, Hypochromic anemia, Iris hypopigme...	ORPHA:2720
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Compulsive behaviors, Limb dystonia, ...	ORPHA:2388
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Glycogen Storage Disease Ib	Splenomegaly, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Neutrope...	OMIM:232220
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R...	ORPHA:99104
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti...	ORPHA:73263
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Posteriorly rotated ears, Low-set ears	OMIM:241410
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn...	ORPHA:98905
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Den Hoed-De Boer-Voisin Syndrome	Ataxia, Tremor, Inability to walk, Overweight, Obesity, Agitation, Dysphagia, Decreased body weig...	OMIM:619229
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ...	ORPHA:449291
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Respiratory insufficiency, Microtia, Conductive hearing impairment, Hear...	ORPHA:2135
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Hepatosplenomegaly	ORPHA:397612
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Sensorineural hearing impairment, Cupped ear, Recurrent pneumonia, Low-...	OMIM:300472
Rett Syndrome, Congenital Variant	Dystonia, Chorea, Tongue thrusting, Athetosis, Bruxism, Abnormal repetitive mannerisms	OMIM:613454
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Gait ataxia	OMIM:300486
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Remnants of the hyaloid vascular system, Posterior subcapsular catar...	ORPHA:637
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Optic atrophy, Dysphagia, A...	ORPHA:496641
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Dystonia,...	ORPHA:3008
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Optic atrophy, Obesity, Self-injurious behavior, Astigmatism,...	ORPHA:468678
Proximal 16P11.2 Microdeletion Syndrome	Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Failure to thrive, ...	ORPHA:261197
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Dyspnea, Leukopenia, Interstitial pneumonitis, Increas...	OMIM:127550
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Phelan-Mcdermid Syndrome	Broad-based gait, Aggressive behavior, Impaired pain sensation, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Inability...	ORPHA:70
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness	OMIM:619293
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,...	OMIM:616468
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia	ORPHA:572013
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Epistaxis, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recurrent b...	ORPHA:79259
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Pancytopenia, Ataxia, Pneumonia, Recurrent urinary tract infections, Se...	ORPHA:309282
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Overweight, Head-banging, Self-injurious behavior, Attention deficit hyperacti...	OMIM:619575
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Vertigo, Interstitial pneumonitis, Granulocytopenia, Lympho...	ORPHA:454831
Childhood Absence Epilepsy	Jerky head movements, Hyperventilation	ORPHA:64280
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Unsteady gait, Failure to thrive, Abnormal repetitive mannerisms, Self-mutil...	OMIM:212066
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:616393
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Optic nerve hypoplasia, Inability to walk, Dystonia, Abnormal repeti...	ORPHA:300570
Fanconi Anemia, Complementation Group F	Pneumonia, Anemia, Leukopenia, Microtia, Bone marrow hypocellularity, Conductive hearing impairme...	OMIM:603467
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Mixed hearing impairment, Ataxia, Thickened helices, Abnormal...	ORPHA:581
Bronchial Neuroendocrine Tumor	Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho...	ORPHA:97287
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Respiratory tract infection, Myocardit...	ORPHA:544482
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,...	ORPHA:96121
3P25.3 Microdeletion Syndrome	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hearing impairment, Abnormal lung lobation, Decreased circulating total IgM, Low-set ears, Jerky ...	ORPHA:369837
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Waddling gait, Respiratory distress, Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia, ...	ORPHA:99646
Hereditary Sensory And Autonomic Neuropathy Type 4	Pain insensitivity, Somatic sensory dysfunction, Fasciitis, Abscess, Osteomyelitis, Impaired temp...	ORPHA:642
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Impaired pain sensation, Attention deficit hyperactivity diso...	OMIM:619005
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Corneal opacity, Small for gestational age, Astigmatism, G...	ORPHA:464311
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal repetitive mannerisms	ORPHA:500159
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegal...	OMIM:615846
Chromosome 15Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Ataxia, Abnormal repetitive mannerisms, Compulsive beha...	OMIM:615656
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Dystonia, Abnormal ...	ORPHA:522077
Gaucher Disease, Type Ii	Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Throm...	OMIM:230900
Pitt-Hopkins Syndrome	Self-injurious behavior, Astigmatism, Abnormal repetitive mannerisms, Gait ataxia	OMIM:610954
Dpagt1-Cdg	Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Optic atrophy, Head-banging, De...	ORPHA:86309
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Pain insensitivity, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Astigmatism...	OMIM:617330
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Ataxia, Pneumonia, Pustule, Respiratory tract infection, Granu...	ORPHA:68
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Decreased circulating IgG level, Eczema, Erythema nodosum, Tra...	ORPHA:3132
Lysinuric Protein Intolerance	Glomerulonephritis, Thrombocytopenia, Intraalveolar phospholipid accumulation, Respiratory insuff...	ORPHA:470
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Aspiration pneumonia	OMIM:619167
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Opisthotonus,...	ORPHA:508533
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Abnormal repetitive mannerisms	ORPHA:79155
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Sensorineu...	ORPHA:1018
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior	OMIM:610253
Bainbridge-Ropers Syndrome	Inability to walk, Self-injurious behavior, Recurrent hand flapping, Failure to thrive, Abnormal ...	OMIM:615485
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Small for gestational age, Aggressive behavior, Inability to walk, Neutropenia, Astigmati...	OMIM:617799
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Truncal ataxia, Thrombocytopen...	OMIM:301072
Rauch-Steindl Syndrome	Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Prader-Willi Syndrome Due To Translocation	Obesity, Head-banging, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal t...	ORPHA:177907
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Corneal opacity, Small for gestational age, Astigmatism, Gait d...	ORPHA:464306
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh...	ORPHA:1001
Tay-Sachs Disease	Inability to walk, Dysmetria, Hepatosplenomegaly, Gait disturbance, Aspiration pneumonia, Hearing...	ORPHA:845
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Hypophosphatem...	ORPHA:534
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, ...	ORPHA:171
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag...	OMIM:309000
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax...	OMIM:614756
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Glomerulonephritis, Epistaxis, Dyspnea, Leukocytosis, Severe inf...	ORPHA:340
Combined Oxidative Phosphorylation Deficiency 25	Sensorineural hearing impairment, Low-set ears, Aspiration pneumonia	OMIM:616430
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Failure to thrive, Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachypnea	ORPHA:26793
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Mucopolysaccharidosis Type 2	Papilledema, Hyperactivity, Abnormality of retinal pigmentation, Corneal opacity, Impulsivity, Ag...	ORPHA:580
Chops Syndrome	Tracheomalacia, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Thickened ...	OMIM:616368
Kleefstra Syndrome	Aggressive behavior, Obesity, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil...	ORPHA:261494
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ...	ORPHA:2273
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Increased circulating IgG level, Tubulointerstitial neph...	ORPHA:449395
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms	OMIM:300672
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop...	OMIM:219700
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Mucopolysaccharidosis, Type Vi	Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de...	OMIM:253200
Degcags Syndrome	Leukopenia, Iron deficiency anemia, Congenital hypoplastic anemia, Hepatosplenomegaly, Abnormal s...	OMIM:619488
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Pain insensitivity, Optic nerve hypoplasia, Aggressive behavior, H...	OMIM:620330
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Abnormal repetitive mannerisms, Obesity, Difficulty walking	OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Aggressive behavior, Myopic astigmatism, Obesity, Hepatosplenomegaly, Abnormal repetitive mannerisms	OMIM:301066
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m...	OMIM:301040
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Aspiration pneumonia, Low-set ears, Macrotia, Hearing impairment	ORPHA:79255
Developmental And Epileptic Encephalopathy 100	Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms	OMIM:619777
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Increased circulating IgA level, Osteoarthritis, Leukopenia, Increased circ...	ORPHA:2298
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Optic atrophy, Self-injurious behavior, Compulsive behaviors, Frequent temper tant...	OMIM:619512
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Obesity, Truncal obesity, Asti...	OMIM:615873
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set, posteriorly rotated ears, Recurrent respiratory infections, Apnea, Tachypnea, Low-set ea...	ORPHA:397715
1P36 Deletion Syndrome	Cataract, Abnormality of the spleen, Ocular albinism, Polyphagia, Optic atrophy, Obesity, Self-in...	ORPHA:1606
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesit...	ORPHA:353281
Cornelia De Lange Syndrome 1	Pneumonia, Abnormal incisura morphology, Sensorineural hearing impairment, Low-set ears, Otitis m...	OMIM:122470
Niemann-Pick Disease Type C	Ataxia, Bone-marrow foam cells, Splenomegaly, Chorea, Abnormal lung morphology, Respiratory insuf...	ORPHA:646
Marshall-Smith Syndrome	Apnea, Recurrent upper respiratory tract infections, Airway obstruction, Stridor, Bilateral condu...	OMIM:602535
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Coloboma, Abnormal optic disc morphology, Retinal coloboma, Abnormal repe...	ORPHA:508498
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur...	ORPHA:513456
Arboleda-Tham Syndrome	Dystonia, Optic atrophy, Astigmatism, Conjunctivitis, Gait imbalance, Dysphagia, Abnormal repetit...	OMIM:616268
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms	ORPHA:319182
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Large fleshy ears, Athetosis, Microtia, Prominent tragus, Blepharitis, Pulmonary arterial hyperte...	ORPHA:280633
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Difficulty walking, Aspiration ...	OMIM:619482
Nmda Receptor Encephalitis	Oculogyric crisis, Hypersexuality, Chorea, Opisthotonus, Choreoathetosis, Agitation, Dystonia, Ab...	ORPHA:217253
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Self-injurious behavior, Severe failure to thrive, Abn...	ORPHA:468631
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Recurrent infections, Aspiration pneumonia, Hearing...	ORPHA:1465
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Tremor, Nuclear pulverulent cataract, Self-injurious behavior, Trunca...	OMIM:612474
Kinsship Syndrome	Failure to thrive, Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesit...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Cataract, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesit...	ORPHA:353277
Ogden Syndrome	Torticollis, Polycythemia, Iron deficiency anemia, Hyperbilirubinemia, Dysphagia, Abnormal repeti...	OMIM:300855
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Tracheomalacia, Sensorineural hearin...	ORPHA:444077
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,...	OMIM:300166
Cholera	Tachypnea, Aspiration pneumonia, Hyperventilation	ORPHA:173
Unilateral Polymicrogyria	Pseudobulbar paralysis, Abnormal posturing	ORPHA:268943
Primrose Syndrome	Restlessness, Ataxia, Elevated circulating alpha-fetoprotein concentration, Aggressive behavior, ...	OMIM:259050
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Posteriorly rotated ears, Pneumonia, Hypoplasia of the thymus, ...	OMIM:264090
Wolf-Hirschhorn Syndrome	Accessory spleen, Rieger anomaly, Small for gestational age, Ectopia pupillae, Failure to thrive,...	OMIM:194190
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia	ORPHA:447997
Van Esch-O'Driscoll Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity	OMIM:301030
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Broad-based gait, Cataract, Impaired pain sensation, Asplenia, Inability to walk, A...	ORPHA:261552
Lafora Disease	Inability to walk, Ataxia, Recurrent aspiration pneumonia, Gait disturbance	ORPHA:501
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small for gestational age, Hyperactivity, Optic atrophy, Abnormal repetitive mannerisms	OMIM:309590
Kabuki Syndrome 1	Hemolytic anemia, Posteriorly rotated ears, Autoimmune thrombocytopenia, Protruding ear, Recurren...	OMIM:147920
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Cataract, Impaired pain sensation, Asplenia, Inability to walk, Dysphagia, Asti...	ORPHA:261537
Mowat-Wilson Syndrome	Broad-based gait, Cataract, Ataxia, Impaired pain sensation, Asplenia, Inability to walk, Dysphag...	ORPHA:2152
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Alobar Holoprosencephaly	Central apnea, Inability to walk, Sensorineural hearing impairment, Aspiration pneumonia, Abnorma...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Inability to walk, Sensorineural hearing impairment, Aspiration pneumonia, Abnorma...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Inability to walk, Sensorineural hearing impairment, Aspiration pneumonia, Abnorma...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Inability to walk, Sensorineural hearing impairment, Aspiration pneumonia, Abnorma...	ORPHA:220386
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b...	ORPHA:805
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Broad-based gait, Apnea, Breathing dysregulation, Inability to walk, Aspiration ...	ORPHA:438213
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis...	OMIM:619522
Coffin-Siris Syndrome 12	Failure to thrive, Abnormal repetitive mannerisms	OMIM:619325
Doors Syndrome	Respiratory distress, Atresia of the external auditory canal, Low-set ears, Aspiration pneumonia,...	ORPHA:79500
Pmm2-Cdg	Respiratory distress, Pericarditis, Abnormal pinna morphology, Ataxia, Aspiration pneumonia, Impa...	ORPHA:79318
Yunis-Varon Syndrome	Sensorineural hearing impairment, Cupped ear, Protruding ear, Prominent antihelix, Microtia, Low-...	OMIM:216340

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 Cyba

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 Cyba.

There are 5 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)	Cyba^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cyba^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Cyba^{tm1a(EUCOMM)Wtsi}	PMC6459510
Pulmonary metastatic colonisation and granulomas in NOX2-deficient mice.	The Journal of pathology (September 2018)	Cyba^{tm1a(EUCOMM)Wtsi}	PMC6221033
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Cyba^{tm1a(EUCOMM)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Cyba^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Cyba^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cyba^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cyba^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cyba MGI:1316658

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Legacy Phenotype Associated Images

Human diseases caused by Cyba mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data