Gene Summary

Name:
Fyn proto-oncogene
Synonyms:
Src Kinase p59

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Fyntm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 111 images

Human diseases caused by Fyn mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 40
Lymphopenia OMIM:616433
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 8
Lymphopenia OMIM:615401
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Mental Retardation, Autosomal Recessive 4
Delayed myelination OMIM:611107
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating IgE level, Cutaneous abscess, Recurrent otitis media, In... OMIM:618944
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Increased circulating IgM le... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Huntington Disease
Dystonia, Memory impairment, Aggressive behavior, Apathy, Oral-pharyngeal dysphagia, Degeneration... ORPHA:399
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Hepatic Venoocclusive Disease With Immunodeficiency
Microcephaly, Decreased circulating IgG level OMIM:235550
Mental Retardation, Autosomal Recessive 60
Microcephaly, Delayed myelination OMIM:617432
Autosomal Recessive Spastic Paraplegia Type 71
Hypoplasia of the corpus callosum, Abnormal myelination ORPHA:401840
Leptin Receptor Deficiency
Aggressive behavior, Polyphagia, Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism... OMIM:614963
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Agammaglobulinemia, Decreased circulating IgA level, Decreased circula... OMIM:300400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy, Optic atrophy, Abnormal periventricular white matter morphology OMIM:616370
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Optic atrophy, Dysplastic corpus callosum OMIM:613162
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Dystonia 30
Hypothalamic hamartoma, Bipolar affective disorder, Dystonia, Aggressive behavior, Loss of abilit... OMIM:619291
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Secondary microcephaly, Cerebral atrophy, Delayed myelination OMIM:618331
Microcephaly 19, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microcephaly, Delayed myelination, Simplified gyral pattern OMIM:617800
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Optic atrophy, Delayed myelination, Abnormal periventricular white matter morphology OMIM:616881
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Abnormal myelination, Agenesis of corpus callosum ORPHA:401830
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Abnormal myelination, Agenesis of corpus callosum ORPHA:401820
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Cerebral atrophy, Abnormal myelination, Agenesis of corpus callosum, Par... ORPHA:85179
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... OMIM:603909
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Polymicrogyria, Dysplastic corpus callosum, Partial agenesis o... OMIM:604213
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Tor... OMIM:613724
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Periventricular Nodular Heterotopia 8
Microcephaly, Delayed myelination OMIM:618185
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicrogyria, Microcephaly, Decreased circ... OMIM:618973
Immunodeficiency 20
Reduced natural killer cell activity OMIM:615707
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Abnormal natural killer cell physiology OMIM:613101
Developmental And Epileptic Encephalopathy 28
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral atrophy, Retinal degeneration, M... OMIM:616211
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... OMIM:617765
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Agenesis of cor... ORPHA:250972
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Frontoparietal cortical... OMIM:610031
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Interhypothalamic Adhesion, Self-injurious behavior, Infantile spasms, Impulsivit... OMIM:618929
Kimura Disease
Increased circulating IgE level ORPHA:482
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination, Abnormal cerebral white matter morphology, Optic atrophy, Type II lissencep... ORPHA:352682
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased circulating IgG level, Increased circulating IgE l... OMIM:615767
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Anosmia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotro... OMIM:614837
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Splenomegaly, Autoimmunity OMIM:618495
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Pachygyria, Delayed myelination, Pigmentary retinopathy, Microcephaly OMIM:617613
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Developmental And Epileptic Encephalopathy 16
Delayed myelination, Cerebral atrophy, Secondary microcephaly, Optic atrophy, Microcephaly OMIM:615338
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Griscelli Syndrome, Type 2
Progressive neurologic deterioration, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hyper... OMIM:607624
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum ORPHA:85334
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Anosmia, Primary amenorrhea, Hyposmia, Hypogonadotropic hy... OMIM:612702
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Candidiasis, Familial, 2
Increased circulating IgE level OMIM:212050
47,Xyy Syndrome
Cryptorchidism, Impaired social interactions, Increased circulating gonadotropin level, Azoosperm... ORPHA:8
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Anemia, Splenomegaly ORPHA:37748
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... OMIM:308750
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Kallmann Syndrome
Cryptorchidism, Tremor, Abnormal morphology of female internal genitalia, Breast hypoplasia, Erec... ORPHA:478
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia ORPHA:2688
Developmental And Epileptic Encephalopathy 58
Secondary microcephaly, Optic atrophy, Delayed myelination OMIM:617830
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Lissencephaly 8
Hypoplasia of the corpus callosum, Abnormal myelination, Polymicrogyria, Microcephaly, Optic atro... OMIM:617255
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:171703
Developmental And Epileptic Encephalopathy 54
Microcephaly, Delayed myelination OMIM:617391
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Pontocerebellar Hypoplasia, Type 2D
Delayed myelination, Abnormal periventricular white matter morphology, Hypoplasia of the corpus c... OMIM:613811
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Craniopharyngioma
Polyphagia, Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism,... ORPHA:54595
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Disinhibition, Dementia, Hypoplasia of the corpus callosum, Gait disturb... OMIM:618193
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Intellectual Developmental Disorder, X-Linked 104
Tremor, Delayed myelination, Aggressive behavior, Poor eye contact, Hypoplasia of the corpus call... OMIM:300983
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function, Recurr... ORPHA:277
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Dementia, Frontal cortical atrophy... ORPHA:2822
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Seizure, Hypogonadotropic hypogonadism, Decreased te... OMIM:610628
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Emotional lability, Anti-dsDNA antibody positivity, Bi... ORPHA:1929
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Decreased serum complement C3, Decreased serum complement C... OMIM:615559
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficien... OMIM:618841
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Mucolipidosis Iv
Retinal degeneration, Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Optic at... OMIM:252650
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Anosmia, Primary amenorrhea, Hyposmia, Decreased testicular size, Mi... OMIM:614897
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Skin-picking, Delayed myelination, Aggressive behavior, Self-injurious behavior, ... OMIM:618512
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Secondary microcephaly, Delayed myelination OMIM:618339
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Bardet-Biedl Syndrome 19
Hypogonadism, Hyposmia, External genital hypoplasia OMIM:615996
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Cerebral cortical atrophy, Hyperactivity, Bipolar affective disorder, Delayed mye... ORPHA:485350
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczema OMIM:618985
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Microcephaly, Decreased circulating IgG level, Neutropenia ORPHA:2643
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Anosmia, Choanal atresia, Primary amenorrhea, Hypogonadotropic hypogonadism, Micr... OMIM:147950
Young-Onset Parkinson Disease
Impaired social interactions, Tremor, Dystonia, Dementia, Depression, Apathy, Female sexual dysfu... ORPHA:2828
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Gorlin Syndrome
Cryptorchidism, Wide nasal bridge, Cerebral calcification, Hypogonadotropic hypogonadism, Abnorma... ORPHA:377
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Mental Retardation, Autosomal Recessive 40
Hypoplasia of the corpus callosum, Microcephaly, Secondary microcephaly, Delayed myelination OMIM:615599
Aicardi-Goutieres Syndrome 3
Delayed myelination, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... OMIM:610329
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Anosmia, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gona... OMIM:614841
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Emotional lability, Memory impairment, Ataxia... ORPHA:2495
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Abnormal myelination, Optic atrophy ORPHA:431329
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Cerebral atrophy, Thrombocytopenia, Basal ganglia calcifica... OMIM:615846
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Anosmia, Microcephaly, Hypogonadism, Short nasal septum, Depressed nasal bridge OMIM:302950
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphadenitis, Decreased p... ORPHA:331206
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Kufor-Rakeb Syndrome
Tremor, Dystonia, Aggressive behavior, Dementia, Akinesia, Dysphagia, Gait disturbance, Anosmia, ... OMIM:606693
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Microcephaly, Decreased circulating IgG level, Neutropenia OMIM:251190
Developmental And Epileptic Encephalopathy 14
Delayed myelination, Hypoplasia of the corpus callosum, Microcephaly, Cerebral cortical atrophy OMIM:614959
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Maternal diabetes, Agenesis of corpus callosum, Absent septum pellucidum, Anosmia... ORPHA:3157
Riddle Syndrome
Microcephaly, Decreased circulating IgG level OMIM:611943
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinemia, Recurrent pneumonia OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Chronic sinusitis OMIM:613502
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Leukopenia ORPHA:83313
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... OMIM:300853
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Bronchiectasi... OMIM:240500
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:614838
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin infections, Chronic ... ORPHA:217390
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Anemia, Abnormal B cell count ORPHA:100024
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Seizure, Hypogonadotropic hypogonadism, Micropenis OMIM:244200
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Hydrolethalus
Cryptorchidism, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Abnormality of the sense ... ORPHA:2189
Foxg1 Syndrome
Inability to walk, Impaired social interactions, Dystonia, Delayed myelination, Inappropriate cry... ORPHA:561854
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Amoebiasis Due To Free-Living Amoebae
Lethargy, Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, Ataxia, Ab... ORPHA:68
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Seizure precipitated by febrile infection, Abnormal s... ORPHA:363558
Chilblain Lupus
Systemic lupus erythematosus, Increased circulating antibody level, Chronic myelomonocytic leukem... ORPHA:90280
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema OMIM:618523
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty, Attention deficit... ORPHA:3000
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Delayed myelination, Hypoplasia of the corpus callosum, Cere... ORPHA:397951
Hereditary Late-Onset Parkinson Disease
Dystonia, Dementia, Depression, Akinesia, Apathy, Dysphagia, Resting tremor, Lewy bodies, Bradyki... ORPHA:411602
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of... ORPHA:1135
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Anosmia, Primary amenorrhea OMIM:614858
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... OMIM:617099
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Peripheral hypomyelination, Anosmia, Demyelinating peripheral neuropathy, Ataxia,... OMIM:609136
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia OMIM:612370
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:147060
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Microcephaly, Agenesis of cor... OMIM:614833
Septooptic Dysplasia
Absent septum pellucidum, Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypop... OMIM:182230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD3-positive T cells... ORPHA:276
Familial Hemophagocytic Lymphohistiocytosis
Increased serum interferon-gamma level, Decreased circulating antibody level, Abnormality of seru... ORPHA:540
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Optic atrophy, Agenesis of corpus callosum,... ORPHA:1528
Immunodeficiency 37
Decreased circulating antibody level, Encephalitis, Colitis OMIM:616098
Leber Congenital Amaurosis 10
Seizure, Hyposmia OMIM:611755
Neuroferritinopathy
T2 hypointense thalamus, Dystonia, Palatal myoclonus, Emotional lability, Resting tremor, Iron ac... ORPHA:157846
Dopa-Responsive Dystonia
Dystonia, Agoraphobia, Emotional lability, Panic attack, Generalized dystonia, Delayed myelinatio... ORPHA:255
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, L... OMIM:218670
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Cach Syndrome
Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia, Apathy, Limb ataxi... ORPHA:135
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum OMIM:600329
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Lymphopenia, ... OMIM:615816
Duplication Of The Pituitary Gland
Self-mutilation, Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Microcepha... ORPHA:314621
Zika Virus Disease
Thrombocytopenia, Microcephaly, Increased circulating IgM level, Congenital intracerebral calcifi... ORPHA:448237
Igg4-Related Aortitis
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... ORPHA:449400
Johnson Neuroectodermal Syndrome
Choanal stenosis, Micropenis, Anosmia, Hypogonadotropic hypogonadism, Decreased testicular size, ... OMIM:147770
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Nasal congestion, Dysphagia, Anosmia, Wide nasal bridge, Seizure, Nocturna... OMIM:600679
Congenital Hypothyroidism
Goiter, Depression, Hypothyroidism, Anosmia, Abnormality of reproductive system physiology, Abnor... ORPHA:442
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Increased circulating IgE level, Blepharitis OMIM:614328
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Central adre... OMIM:615577
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Delayed myelination, Short nose, Underdeveloped nasal alae, Hypoplasia of the cor... OMIM:615803
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Anosmia, Hyposmia OMIM:615267
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia, Bradykinesia, Seizure, Basal ganglia calcification, Generali... OMIM:618824
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Neutropenia, Thrombocytopenia, Splenomegaly, Cerebral calcificat... OMIM:617303
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Microcephaly, Abnormal cerebral white matter morphology, Delayed myelination OMIM:615905
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Leukoencephalopathy With Ataxia
Abnormal chorioretinal morphology, Leukoencephalopathy, Optic neuropathy OMIM:615651
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Decreased circulating antibody level, Chronic atrophic gastritis, Psoriasiform de... OMIM:616100
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Dementia, Depr... ORPHA:79264
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Delayed myelination, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... OMIM:617481
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Anosmia, Seizure, Hypoplasia of penis, Hypogonadotropic hypogonadism... ORPHA:251066
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Hypogonadotropic hypogonadism, Anosmia, Depressed nasal bridge OMIM:113480
Japanese Encephalitis
Abnormality of thalamus morphology, Increased circulating IgM level, Focal T2 hyperintense thalam... ORPHA:79139
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Pneumonia, Hepatiti... ORPHA:169160
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Delayed myelination, Aggressive behavior, Seizure, Depressed nasal bridge, Hyperactivity, Microce... OMIM:615286
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgG level, Hypereosinophilia, Spl... OMIM:617388
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Impaired social interactions, Reduced sperm moti... ORPHA:330015
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia... OMIM:614878
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of the uterus OMIM:614842
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Seizure, Testicular atrophy, Microcephaly, Hypogonadism OMIM:618165
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligospermia, Amenorrhea, Enlarged pituitary gland, Oligomenorrhea, Neoplasm ... ORPHA:91351
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea OMIM:614839
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Macroorchidism, Restin... ORPHA:3077
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Choanal atresia, Microcephaly, Hypogonadism ORPHA:2316
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Hypoplasia of the corpus callosum, Microcephaly, Delayed myelination OMIM:300887
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination, Optic atrophy OMIM:618324
Developmental And Epileptic Encephalopathy 17
Hypoplasia of the corpus callosum, Cerebral atrophy, Delayed myelination OMIM:615473
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Abnormality of the basal ganglia, Decreased thalamic volume, Hypopla... OMIM:618646
Myotonic Dystrophy 2
Oligospermia, Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulat... OMIM:602668
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Anti-liver cytosolic antigen type 1 antibody positivity, Antimit... ORPHA:562639
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Underdeveloped nasal alae, Hypoplasia ... ORPHA:284160
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Increased circulating IgE level, He... ORPHA:443811
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Pyriform aperture stenosis, Choanal atresia, Anosmia, Midnasal s... OMIM:147250
Parkinson Disease 8, Autosomal Dominant
Dementia, Lewy bodies, Resting tremor, Bradykinesia, Hyposmia, Substantia nigra gliosis OMIM:607060
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Subcorneal Pustular Dermatosis
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Hypothyroidism,... ORPHA:48377
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Dystonia, Type II lissencephaly, Emotional lability, Torticollis, Spa... ORPHA:300570
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Hashimoto thyroiditis, Juvenile rheumatoid arthritis, Decrea... ORPHA:275
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmunity, Abnormality... ORPHA:572
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Tick-Borne Encephalitis
Increased circulating IgM level, Fatigable weakness of respiratory muscles, Leukocytosis, Abnorma... ORPHA:297
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circulating IgG level, Rh... OMIM:615934
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Delayed myelination, Dilation of lateral ventricles, Partial agenesis of the co... OMIM:617296
Okur-Chung Neurodevelopmental Syndrome
Pachygyria, Decreased circulating antibody level, Decreased circulating IgA level, Simplified gyr... OMIM:617062
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lack of T cell function, ... ORPHA:35078
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Chronic atrophic gastr... OMIM:616576
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, Dementia, Dysphagia, Cerebral atrophy, A... ORPHA:1947
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short nose, Bifid scrotum, Anosmia, Abnormality of the nares, Hypoplasia of penis, Hypogonadotrop... ORPHA:1295
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Myositis, Crohn's... ORPHA:69126
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Progressive microcephaly, Delayed myelination OMIM:609304
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Recurrent upper respira... ORPHA:99330
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Short n... ORPHA:289266
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Cerebral atrophy, Seizure, Exaggerated s... ORPHA:309246
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Panhypophysitis
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal size of pituitary glan... ORPHA:95513
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Anosmia, External genital hypoplasia, Hyposmia, Hypoplasia of penis, Single naris... ORPHA:2250
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Holoprosencephaly
Cryptorchidism, Panhypopituitarism, Depressed nasal tip, Dystonia, Aplasia/Hypoplasia of the corp... ORPHA:2162
Tempi Syndrome
Polycythemia, Increased circulating IgG level, Increased hematocrit ORPHA:284227
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Cryptorchidism, Febrile seizure (within the age range of 3 mo... ORPHA:404440
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Premature thelarche, Isosexual ... ORPHA:759
Tay-Sachs Disease
Inability to walk, Tremor, Dystonia, Hypointensity of cerebral white matter on MRI, Depression, D... ORPHA:845
49,Xxxxy Syndrome
Cryptorchidism, Tremor, Infertility, Azoospermia, Shyness, Overfriendliness, Depressed nasal ridg... ORPHA:96264
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Increased circulating IgE level, Erythroderma OMIM:256500
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Autoimmune Hepatitis
Antineutrophil antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, Incr... ORPHA:2137
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Difficulty walking, Cerebral atrophy, Ataxia, Abnormal corpus callosum morphology, Abnorm... ORPHA:442835
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity ORPHA:90003
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Focal-onset seizure, Cerebral cortical atrophy, Myoclonic seiz... OMIM:619072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Thrombocytopenia, Cerebral calcification, Leukopenia, Anemia, De... ORPHA:505248
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
C3 Glomerulopathy
Autoimmunity, Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3, C3 n... ORPHA:329918
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:168558
Leukodystrophy, Hypomyelinating, 12
Delayed myelination, Hypoplasia of the corpus callosum, Secondary microcephaly, Abnormal autonomi... OMIM:616683
Microcephaly 10, Primary, Autosomal Recessive
Microcephaly, CNS hypomyelination, Cerebral atrophy, Delayed myelination OMIM:615095
Caffey Disease
Increased circulating antibody level ORPHA:1310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Anencephaly, Retinal dysplasia, Optic nerve dysplasia, Cortical dysplasia,... OMIM:615287
Leishmaniasis
Increased circulating antibody level, Abnormal macrophage morphology, Pancytopenia, Thrombocytope... ORPHA:507
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, Decreased propor... OMIM:613011
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, Abnormality of the sense of smell ORPHA:3201
Developmental And Epileptic Encephalopathy 44
Dystonia, Delayed myelination, Poor eye contact, Hypoplasia of the corpus callosum, Cerebral atro... OMIM:617132
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Chronic o... OMIM:606367
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Vulvovaginal Gingival Syndrome
Abnormality of female external genitalia, Abnormality of tumor necrosis factor secretion ORPHA:83453
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Delayed myelination, Abnormal cerebral white matter morphology, Cerebral cortical atrophy, Microc... OMIM:617668
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:600903
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Bulbous nose, Choanal stenosis, Abnor... ORPHA:95699
Thumb Agenesis, Short Stature, And Immunodeficiency
Delayed puberty, Anosmia OMIM:274190
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Corpus callosum atrophy, Neutropenia, Leukoencephalopathy, Secondary microcephaly, Decreased circ... OMIM:608809
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgM level, Antinuclear antibody positivity, Increased circula... ORPHA:186
Superficial Siderosis
Dysdiadochokinesis, Dementia, Progressive gait ataxia, Limb ataxia, Anosmia, Ataxia, Abnormal cor... ORPHA:247245
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Short nose, Micropenis, Anterior hypopituitarism, Depressed nasal bridge OMIM:241800
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Autoimmunity, Impotence, Hypopituitarism, Pituitary hypothyroidism, Seizure, Adre... ORPHA:91354
Aregenerative Anemia
Erythroid hypoplasia, Dementia, Abnormality of interleukin secretion, Fatigable weakness of skele... ORPHA:101096
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Netherton Syndrome
Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Erythroderma, E... ORPHA:634
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Delayed myelination, Cerebral white matter atrophy, Akinetic mutism, Pachygyria, Abnormal caudate... ORPHA:2148
Stiff Person Spectrum Disorder
Difficulty walking, Hypothyroidism, Agoraphobia, Emotional lability, Exaggerated startle response... ORPHA:3198
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism, Microcephaly, Insulin-resista... ORPHA:2959
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Hypoplasia of the corpus callosum, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Ab... ORPHA:67045
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Delayed myelination, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Abnorma... ORPHA:543470
Ichthyosis And Male Hypogonadism
Male hypogonadism, Anosmia, Seizure, Hypogonadotropic hypogonadism, Gonadotropin deficiency OMIM:308200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Apnea, Obstructive Sleep
Anosmia, Focal impaired awareness seizure OMIM:107650
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Erythroderma, Glomerulonephritis, Hepatitis, Eczema, Arthritis OMIM:304790
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Increased female libido, Delayed puberty, Secondary amenorrhea... ORPHA:432
Spinocerebellar Ataxia Type 32
Azoospermia, Progressive cerebellar ataxia, Testicular atrophy, Cognitive impairment, Male infert... ORPHA:276183
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Ataxia, Testicular atrophy, Cognitive impairment OMIM:613909
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Wolfram Syndrome 1
Tremor, Hypothyroidism, Dysphagia, Cerebral atrophy, Ataxia, Seizure, Testicular atrophy, Diabete... OMIM:222300
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Encephalitis Lethargica
Autoimmunity, Increased circulating antibody level, Mental deterioration, Bilateral basal ganglia... ORPHA:83600
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia OMIM:614879
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Delayed CNS myelination, Difficulty walking, Hypoplasia of the corpus callosum, H... OMIM:618653
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebral atr... OMIM:616900
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Aceruloplasminemia
Tremor, Dystonia, Gait ataxia, Akinesia, Apathy, Limb ataxia, Blepharospasm, Abnormal thalamic MR... ORPHA:48818
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Aggressive beh... ORPHA:83597
Intellectual Disability-Strabismus Syndrome
Narrow nasal ridge, Cryptorchidism, Delayed myelination, Aggressive behavior, Short nose, Decreas... ORPHA:363528
Kallmann Syndrome-Heart Disease Syndrome
Bilateral cryptorchidism, Total anosmia, Delayed puberty, Hypogonadotropic hypogonadism, Decrease... ORPHA:2326
Congenital Disorder Of Glycosylation, Type Iil
Hypohidrosis, Decreased specific anti-polysaccharide antibody level, Hypoplasia of the corpus cal... OMIM:614576
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total IgM, Decreased... OMIM:612301
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Tularemia
Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocytopenia, Anemia, ... ORPHA:3392
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Delayed myelination, Dilation of lateral ventricles ORPHA:85290
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Campomelic Dysplasia
Ambiguous genitalia, Abnormality of the sense of smell, Male pseudohermaphroditism, Depressed nas... ORPHA:140
Lichtenstein Syndrome
Decreased circulating IgA level OMIM:246550
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia, Decreased number of peripheral myelinated nerve fibers OMIM:608720
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly OMIM:201100
Vici Syndrome
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... OMIM:242840
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Delayed myelination, Inappropriate crying, Cerebral white matter atrophy, Focal emotional seizure... ORPHA:79351
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Leukodystrophy, Basal ganglia gliosis, Diffuse white matter a... ORPHA:70474
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating total IgM, Microcephaly, Leukemia, Decreas... OMIM:210900
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Reduced natural killer cell activity OMIM:608233
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Difficulty walking, Hypoplasia of the corpus callosum, Abnormal cerebral white... ORPHA:254930
Aspergillosis
Increased circulating IgE level, Bronchiectasis, Pneumonia, Hepatitis, Keratitis, Encephalitis, S... ORPHA:1163
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48104
Coccidioidomycosis
Increased circulating IgM level, Granuloma, Increased circulating IgG level, Pancreatitis, Cognit... ORPHA:228123
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Microcephaly, Abnormal myelination OMIM:617333
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Myoclonus OMIM:619057
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Thick nasal alae, Wide nasal bridge, Dysplastic corpus callos... ORPHA:557003
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating IgE level, Autoimmunity, Increased circulating antibody level,... ORPHA:449432
Pediatric-Onset Graves Disease
Tremor, Anti-thyroid peroxidase antibody positivity, Increased circulating T4 level, Puberty and ... ORPHA:525731
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neu... OMIM:613179
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Delayed myelination, Hypoplasia of the corpus callosum, Dysphagia... ORPHA:98794
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Abnormality of the sense of smell, Uterus didelphys ORPHA:958
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Hydranencephaly, Abnormalit... ORPHA:2570
Vici Syndrome
Cerebral cortical atrophy, Decreased circulating IgG level, Decreased circulating IgG2 level, Age... ORPHA:1493
Early Infantile Epileptic Encephalopathy
Dystonia, Atonic seizure, Hyperactivity, Micropenis, Precocious puberty, Depressed nasal bridge, ... ORPHA:1934
Waldenström Macroglobulinemia
Cryoglobulinemia, Abnormality of neutrophils, Normocytic anemia, Splenomegaly, Memory impairment,... ORPHA:33226
Autosomal Recessive Spastic Paraplegia Type 55
Decreased sensory nerve conduction velocity, Hypoplasia of the corpus callosum, Onion bulb format... ORPHA:320375
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Delayed myelination, Short nose, Hypoplasia of the corpus callosum, Dysphagia, Seizure, Cerebral ... OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Underdeveloped nasal alae, Ataxia, Wide nasal bridge, Seizure, Exaggerated startle resp... ORPHA:438216
Kapur-Toriello Syndrome
Retinal coloboma, Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
Hereditary Methemoglobinemia
Delayed myelination, Temporal cortical atrophy, Frontal cortical atrophy, Cerebral hypomyelinatio... ORPHA:621
Refsum Disease, Classic
Anosmia, Ataxia OMIM:266500
Moebius Syndrome
Hypogonadotropic hypogonadism, Dysphagia, Abnormality of the sense of smell, Breast aplasia ORPHA:570
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Absent hippocampal ... OMIM:617542
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Tremor, Testicular atrophy, Decreased fertility OMIM:313200
Combined Oxidative Phosphorylation Deficiency 29
Axonal degeneration, Delayed CNS myelination, Optic neuropathy, Microcephaly, Optic atrophy, Reti... OMIM:616811
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Autoimmunity, Hypothyroid... ORPHA:449291
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Convex nasal ridge, Delayed myelination, Hypoplasia of the corpus callosum, Seizu... OMIM:241410
Kennedy Disease
Erectile dysfunction, Gait disturbance, Testicular atrophy, Type II diabetes mellitus, Decreased ... ORPHA:481
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Decreased circulating ... ORPHA:90791
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Generalized myoclonic seizure,... ORPHA:435638
Stiff-Person Syndrome
Depression, Autoimmunity, Agoraphobia, Myoclonic spasms, Opisthotonus, Exaggerated startle respon... OMIM:184850
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Oligospermia, Clitoral hypoplasia, Waddling gait, Microcephaly, Diabetes melli... OMIM:614813
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Increased circulating IgE level, Chronic otitis media, Eczema, Osteomyelitis ORPHA:2314
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Hepatosplenomegaly, Reduced delay... OMIM:242700
Even-Plus Syndrome