Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:614373 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Gait disturbance, Amyotrophic lateral sclerosis |
OMIM:608030 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Impaired pain sensat... |
DECIPHER:29 |
Amyotrophic Lateral Sclerosis 11 |
|
Somatic sensory dysfunction, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Frontotemporal cerebral atrophy, Falls, Shuffling gait, Short stepped shuff... |
ORPHA:412066 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... |
OMIM:602433 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:613435 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Truncal ataxia, Limb ataxia, Abnormal lower motor neuro... |
ORPHA:95434 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Abnormality of chromosome stability, Decreased circulating antib... |
ORPHA:859 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Death in childhood, Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Hippocampal atrophy, Amyotrophic lateral sclerosis, Caudate atrophy |
OMIM:617892 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... |
OMIM:105400 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Gait imbalance, Spastic gait |
ORPHA:247604 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis |
OMIM:616437 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spinal Muscular Atrophy, Type Iii |
|
Loss of ambulation, Degeneration of anterior horn cells |
OMIM:253400 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Distal sensory impairment, Axonal degeneration, Degeneration of anterior horn c... |
OMIM:604484 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells |
OMIM:253550 |
Immunodeficiency 8 With Lymphoproliferation |
|
Attention deficit hyperactivity disorder, Complete or near-complete absence of specific antibody ... |
OMIM:615401 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Chro... |
OMIM:616435 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Amyotrophic late... |
OMIM:105550 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking |
OMIM:613954 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Ataxia |
OMIM:615911 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Chromosom... |
OMIM:609981 |
Amyotrophic Lateral Sclerosis 8 |
|
Neuronal loss in central nervous system, Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:608627 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Difficulty walking, Degeneration of anterior horn cells |
OMIM:159950 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Chromosomal breakage induced ... |
OMIM:617243 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Death in infan... |
OMIM:617514 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocell... |
OMIM:605724 |
Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait |
OMIM:611067 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Degeneration of anterior horn cells |
OMIM:271150 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Hypogonadism, Postnatal growth retardation |
OMIM:616113 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity |
OMIM:609054 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Cryptorchidism, Chromosome breakage, Neonatal death |
OMIM:613390 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Amyotrophic lateral sclerosis |
OMIM:619132 |
Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Spastic gait, Loss of ambulation, Decreased compound muscle action pot... |
OMIM:606353 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Abnormality of chromosome stability, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Brain atrophy, Cranial nerve compression, Abnormal motor neuron morphology, Amyotrophic lateral s... |
ORPHA:52430 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... |
OMIM:619707 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Death in childhood, Splenomegaly |
OMIM:619164 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Pontocerebellar Hypoplasia Type 1 |
|
Ataxia, Cerebral cortical atrophy, Optic atrophy, Degeneration of anterior horn cells |
ORPHA:2254 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Pontocerebellar Hypoplasia, Type 1A |
|
Cerebral cortical atrophy, Limb ataxia, Ataxia, Degeneration of anterior horn cells |
OMIM:607596 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
OMIM:615592 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Amyotrophic lateral ... |
OMIM:606070 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
Polyglucosan Body Neuropathy, Adult Form |
|
Paresthesia, Gait disturbance, Orthostatic hypotension, Abnormal upper motor neuron morphology, D... |
OMIM:263570 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Difficulty walking, Unsteady ... |
ORPHA:600 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Increased circulating interleukin 6 concen... |
OMIM:301082 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Tip-toe gait, Spastic gait, Ataxia, Abnormal lower motor neuron morphology, Amyotrophic lateral s... |
OMIM:205100 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... |
OMIM:618261 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... |
OMIM:613500 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... |
OMIM:301830 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... |
OMIM:613501 |
Boucher-Neuhauser Syndrome |
|
Gait ataxia, Ataxia, Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Primary Lateral Sclerosis |
|
Somatic sensory dysfunction, Spastic gait, Cervical spinal cord atrophy, Abnormal lower motor neu... |
ORPHA:35689 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... |
OMIM:607271 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Pancytopenia, Bone marrow hypocellularity, ... |
OMIM:620133 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Neurodegeneration, Amyotrophic lateral sclerosis |
ORPHA:803 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... |
OMIM:612692 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
Fragile X Syndrome |
|
Congenital macroorchidism, Hyperactivity, Folate-dependent fragile site at Xq28, Macroorchidism, ... |
OMIM:300624 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Chorea, Tip-toe gait, Inability to walk, Ataxia, Difficulty walking, Amyotrophic lateral sclerosis |
ORPHA:300605 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Absence of lymph node... |
ORPHA:277 |
N Syndrome |
|
Abnormality of chromosome stability, Leukemia, Cryptorchidism |
OMIM:310465 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pa... |
OMIM:614470 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Paucity of anterior horn motor neurons, Facial diplegia, Difficulty walking, C... |
OMIM:611890 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... |
OMIM:613502 |
Machado-Joseph Disease Type 3 |
|
Degeneration of anterior horn cells, Progressive gait ataxia, Abnormal lower motor neuron morphol... |
ORPHA:276244 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
ORPHA:169154 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... |
OMIM:615285 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... |
OMIM:616005 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Anemia, Ovarian neoplasm, Ovarian carcinoma |
OMIM:617883 |
Fragile X Syndrome |
|
Macroorchidism, Attention deficit hyperactivity disorder, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... |
OMIM:618982 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Abnormal testis morphology, Decreased circulating antibody l... |
ORPHA:100 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Decreased circulating complement C3 concentration, Absent isohemagglutini... |
OMIM:615559 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Bone marrow hypocellularity |
OMIM:615272 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphade... |
ORPHA:444463 |
Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Bloom Syndrome |
|
Decreased circulating total IgM, Abnormality of chromosome stability, Azoospermia, Decreased circ... |
OMIM:210900 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... |
OMIM:619802 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in infancy, Decreased circulating antibody level, Leukocytosis, Death in adolescence, Death... |
OMIM:618042 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Folate-dependen... |
ORPHA:85327 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... |
OMIM:619705 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... |
ORPHA:754 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... |
OMIM:618108 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas... |
OMIM:608106 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... |
OMIM:619510 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt... |
OMIM:308240 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia, Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, ... |
OMIM:609053 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Splenomegaly, Elevated proportion of CD4-negative, CD8-neg... |
OMIM:601859 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells |
ORPHA:1145 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Difficulty walking, Inability to walk, Waddling gait |
ORPHA:2590 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... |
OMIM:618048 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Icf Syndrome |
|
Anemia, Abnormality of chromosome stability, Decreased circulating antibody level, Lymphopenia, A... |
ORPHA:2268 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... |
OMIM:613101 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells |
OMIM:604320 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Abnormal lower motor neuron morphology, Degeneration of the lateral cortico... |
ORPHA:275872 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG2 level, Absent spec... |
OMIM:102700 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Anemia, Decreased response to growth hormone stimulation test, Bone marrow hypocellul... |
OMIM:603467 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:614069 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet... |
OMIM:301081 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:619652 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
ORPHA:276 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Idiopathic Camptocormia |
|
Cerebral atrophy, Myelitis, Amyotrophic lateral sclerosis, Syringomyelia |
ORPHA:1320 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... |
OMIM:600802 |
Fanconi Anemia, Complementation Group L |
|
Anemia, Attention deficit hyperactivity disorder, Bone marrow hypocellularity, Chromosome breakag... |
OMIM:614083 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology |
OMIM:613724 |
Fanconi Anemia, Complementation Group C |
|
Anemia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Pancytopenia, Bon... |
OMIM:227645 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia, Increa... |
ORPHA:482 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Cerebral atrophy, Gait disturbance, Caudate atrophy |
OMIM:221770 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Splenomegaly, Elevated proportion ... |
OMIM:603909 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Pancytopenia, Cry... |
OMIM:600901 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I... |
OMIM:618394 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... |
OMIM:616100 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Pancytopenia, Cry... |
OMIM:227650 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Fanconi Anemia, Complementation Group D2 |
|
Anemia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Annular pancreas,... |
OMIM:227646 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid ha... |
ORPHA:91 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Neutropenia, Decreased circulating IgG level |
OMIM:193670 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait ataxia, Spastic gait, Gait disturbance, Abnormal upper motor neuron morphology, Corpus callo... |
OMIM:601162 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... |
OMIM:613011 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells |
OMIM:271225 |
Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Decreased T cell activation, Hemolytic anemia, Decreased circulating IgE, Impaired ... |
OMIM:308230 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl... |
OMIM:619767 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Decreased circulating complement C3 concentration, Lymphopenia, Autoimmune thrombocyt... |
OMIM:301080 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level |
OMIM:616740 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... |
OMIM:619752 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... |
ORPHA:2688 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt... |
OMIM:617780 |
Lig4 Syndrome |
|
Abnormality of chromosome stability, Pancytopenia, Lymphadenopathy, Leukocytosis, Cryptorchidism,... |
ORPHA:99812 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Short stature, Growth delay, Hypogonadism |
OMIM:618165 |
Riddle Syndrome |
|
Decreased circulating total IgM, Chromosomal breakage induced by ionizing radiation, Generalized ... |
ORPHA:420741 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegaly, Lymp... |
OMIM:242700 |
Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level, Pancytopenia, Hemophagocytosis, Aplastic anemia, Splenomegaly |
OMIM:300635 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... |
ORPHA:507 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Splenomegaly, Decreased circulating total IgM, B lymphocytopenia, Generalize... |
OMIM:614700 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida... |
OMIM:226990 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
OMIM:615122 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells |
OMIM:619693 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:33355 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... |
ORPHA:8 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation in response... |
ORPHA:572 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Decreased circulating antibody level, Death in infancy, Lymphopenia, Im... |
OMIM:243150 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mell... |
ORPHA:465508 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Aarskog-Scott Syndrome |
|
Short stature, Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentratio... |
OMIM:305400 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Gait disturbance, Ataxia, Abnormal lower motor neuron morphology, Loss of ambulati... |
OMIM:614298 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... |
ORPHA:3261 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell... |
ORPHA:443811 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R... |
OMIM:601495 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... |
ORPHA:1772 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia, Abnormality of chromosome stability, Death in infancy |
OMIM:300514 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Growth delay |
OMIM:613987 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Sézary Syndrome |
|
Abnormal immunoglobulin level, Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:3162 |
Griscelli Syndrome |
|
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Lymphadenopathy, Bo... |
ORPHA:381 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... |
ORPHA:90362 |
Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ly... |
OMIM:618935 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... |
ORPHA:221139 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Growth delay |
OMIM:222300 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia |
OMIM:615966 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... |
OMIM:616084 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombo... |
OMIM:615934 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, ... |
ORPHA:540 |
Meningioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Neoplasm of the anterior... |
ORPHA:2495 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... |
ORPHA:760 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Increased circulating antibody level, Lymphopenia, Dysphagia, Thrombocytopenia |
ORPHA:319218 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Good Syndrome |
|
Anemia, Decreased circulating antibody level, Mediastinal lymphadenopathy, Dysphagia, Thrombocyto... |
ORPHA:169105 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, C... |
ORPHA:2686 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 level, Acute lymphoblasti... |
OMIM:208900 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Decreased circulating total IgM, Lymphopenia, Severe B lymphocytopenia, Decreased circula... |
OMIM:620005 |
Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:242900 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... |
OMIM:157640 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
Immunodeficiency 47 |
|
Leukopenia, Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased c... |
OMIM:300972 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Thrombocytopenia, Spl... |
OMIM:617591 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Splenomegaly, Lymphopenia, Decreased circulating antibody level |
OMIM:605309 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti... |
OMIM:301000 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Increased circulating IgE level, Increased circulating IgM level, ... |
OMIM:615816 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Decreased circulating antibody level, Neutropenia in presence of anti-neutropil antibodies, Hepat... |
OMIM:615952 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Weight loss, Oligospermia, ... |
ORPHA:85450 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Neutropenia, Increased circulating IgA level, Lymphopenia |
OMIM:616395 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:293978 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Aplasia of the eccrine swea... |
OMIM:300291 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia, Abnormality of chromosome stability, Decreased circulating antibody level |
ORPHA:175 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating antibody level, Enlarged lacrimal glands,... |
ORPHA:449432 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Lymphopenia, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... |
ORPHA:90045 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Attention def... |
ORPHA:647 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymph... |
OMIM:615688 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Autoimmune thrombocytopenia,... |
ORPHA:1572 |
Alg12-Cdg |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Senile plaques, Frontotemporal... |
ORPHA:100070 |
Vici Syndrome |
|
Leukopenia, Decreased T cell activation, T lymphocytopenia, Decreased circulating IgG2 level, Lym... |
OMIM:242840 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Bloom Syndrome |
|
Premature ovarian insufficiency, Small for gestational age, Azoospermia, Oligospermia, Diabetes m... |
ORPHA:125 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, De... |
OMIM:619381 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Short stature |
OMIM:300322 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... |
OMIM:612541 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, ... |
OMIM:127550 |
Fanconi Anemia |
|
Leukopenia, Anemia, Abnormality of chromosome stability, Abnormal testis morphology, Pyridoxine-r... |
ORPHA:84 |
Nijmegen Breakage Syndrome |
|
Hyperactivity, T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobuli... |
OMIM:251260 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
Mirage Syndrome |
|
Leukopenia, Anemia, Decreased testicular size, Lymphopenia, Thrombocytopenia, Cryptorchidism, Hyp... |
OMIM:617053 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Decreased response to growth hormone stimulation test, Absent circulati... |
OMIM:307200 |
Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Decreased motor nerve conduction velocity, Choreoathetosi... |
ORPHA:79139 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Agammaglobulinemia, Lymphopenia |
ORPHA:935 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
Whim Syndrome |
|
Lymphadenitis, Abnormality of neutrophil morphology, Decreased circulating antibody level, Lympho... |
ORPHA:51636 |
Multiple Myeloma |
|
Anemia, Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, I... |
ORPHA:29073 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Leukopenia, Non-caseating epithelioid cell granulomatosis, Decreas... |
ORPHA:227982 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Decreased circulating total IgM, B lymphocytopenia, S... |
ORPHA:83617 |
Immunodeficiency 31C |
|
Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:614162 |
Autoimmune Polyendocrinopathy Type 4 |
|
Leukopenia, Non-caseating epithelioid cell granulomatosis, Decreased circulating antibody level, ... |
ORPHA:227990 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
X-Linked Intellectual Disability, Snyder Type |
|
Short stature, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism |
ORPHA:3063 |
Primary Sjögren Syndrome |
|
Leukopenia, Decreased circulating complement C3 concentration, Decreased circulating antibody lev... |
ORPHA:289390 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Decreased cir... |
ORPHA:90363 |
Syndromic Diarrhea |
|
Hypoplasia of the thymus, Panhypogammaglobulinemia, Increased mean platelet volume, Lymphopenia, ... |
ORPHA:84064 |
Steinert Myotonic Dystrophy |
|
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... |
ORPHA:273 |
Noonan Syndrome 1 |
|
Hypogonadism, Short stature, Hypospadias, Male infertility, Cryptorchidism, Failure to thrive in ... |
OMIM:163950 |
Cystinosis, Nephropathic |
|
Weight loss, Short stature, Male hypogonadism, Diabetes mellitus, Delayed puberty, Male infertili... |
OMIM:219800 |
Cystic Fibrosis |
|
Failure to thrive, Male infertility |
OMIM:219700 |
Myxoid/Round Cell Liposarcoma |
|
|
ORPHA:99967 |
Tremor, Hereditary Essential, 4 |
|
|
OMIM:614782 |