| 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, Amyotrophic lateral sclerosis, Gait disturbance |
OMIM:608030 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired proprioception, Impaired temperature sensation, Abnormal motor neuron morphology, Impair... |
DECIPHER:29 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction |
OMIM:612577 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Immunodeficiency 24 |
|
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... |
OMIM:615897 |
| Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
| Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
| Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... |
OMIM:619528 |
| Spermatogenic Failure 25 |
|
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... |
OMIM:617960 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Difficulty walking, Decreased compound muscle action potential amplitude, Axonal degeneration, Pa... |
OMIM:602433 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
| Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
| Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Truncal ataxia, Gait ataxia,... |
ORPHA:95434 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
| Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
| Spermatogenic Failure 30 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism |
OMIM:618110 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... |
ORPHA:98797 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
| Transcobalamin Deficiency |
|
Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody level, Decrease... |
ORPHA:859 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
| Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
| Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
| Spermatogenic Failure 32 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:619831 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
| Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
| Spermatogenic Failure 62 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:620547 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Death in childhood, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
| Immunodeficiency 105 |
|
Death in childhood, Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B l... |
OMIM:619924 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Hippocampal atrophy, Amyotrophic lateral sclerosis, Caudate atrophy |
OMIM:617892 |
| Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... |
ORPHA:98798 |
| Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... |
OMIM:301101 |
| 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 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... |
OMIM:105400 |
| Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
OMIM:243060 |
| Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance |
ORPHA:247604 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spinal Muscular Atrophy, Type Iii |
|
Degeneration of anterior horn cells, Loss of ambulation |
OMIM:253400 |
| Immunodeficiency 52 |
|
Defective T cell proliferation, Death in childhood, Lymphadenopathy, Abnormal natural killer cell... |
OMIM:617514 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism |
OMIM:261550 |
| Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
| Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Distal sensory impairment, Gait disturbance, Axonal degenera... |
OMIM:604484 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... |
OMIM:615401 |
| Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells |
OMIM:253550 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... |
ORPHA:261529 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Chro... |
OMIM:616435 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin... |
OMIM:615615 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... |
OMIM:267500 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Cerebral atrophy, Neuronal loss in central nervous system, Abnormal lower motor neuron morphology... |
OMIM:105550 |
| Spermatogenic Failure 44 |
|
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... |
OMIM:619044 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking |
OMIM:613954 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology |
OMIM:616911 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Ataxia |
OMIM:615911 |
| Immunodeficiency 54 |
|
Lymphadenopathy, Adrenocorticotropic hormone excess, Chromosome breakage, Splenomegaly, Reduced n... |
OMIM:609981 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
| Amyotrophic Lateral Sclerosis 8 |
|
Loss of ambulation, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608627 |
| Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Difficulty walking, Facial palsy |
OMIM:159950 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop... |
OMIM:618459 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation, Decreased circulating antibody level |
OMIM:613078 |
| Fanconi Anemia, Complementation Group D1 |
|
T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Acute myeloid leukemia, Chromo... |
OMIM:605724 |
| Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells, Waddling gait |
OMIM:271150 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Thrombo... |
OMIM:617243 |
| Immunodeficiency 112 |
|
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... |
ORPHA:52901 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking |
OMIM:611067 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... |
OMIM:615513 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Amyotrophic lateral sclerosis |
OMIM:619132 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... |
OMIM:619846 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... |
OMIM:613493 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Abnormality of chromosome stability, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
| Primary Lateral Sclerosis, Juvenile |
|
Spastic gait, Decreased compound muscle action potential amplitude, Abnormal upper motor neuron m... |
OMIM:606353 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:620282 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... |
OMIM:618433 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... |
OMIM:619824 |
| Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... |
OMIM:619949 |
| Fanconi Anemia, Complementation Group O |
|
Miscarriage, Death in infancy, Chromosome breakage, Neonatal death, Cryptorchidism |
OMIM:613390 |
| Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Brain atrophy, Waddling gait, Cranial nerve compression, Amyotr... |
ORPHA:52430 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:616950 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Difficulty walking, Distal sensory impairment, Unsteady gait... |
ORPHA:600 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... |
OMIM:619707 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Degeneration of anterior horn cells, Limb ataxia, Cerebral cortical atrophy, Ataxia |
OMIM:607596 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spastic gait, Tip-toe gait, Difficulty walking, Abnormal upper motor neuron morphology, Ataxia, A... |
OMIM:205100 |
| Immunodeficiency 76 |
|
Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia |
OMIM:619164 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Pontocerebellar Hypoplasia Type 1 |
|
Optic atrophy, Degeneration of anterior horn cells, Ataxia, Cerebral cortical atrophy |
ORPHA:2254 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Amyotrophic Lateral Sclerosis 21 |
|
Decreased nerve conduction velocity, Distal sensory impairment, Abnormal upper motor neuron morph... |
OMIM:606070 |
| Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:620103 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... |
OMIM:616452 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Death in infancy, Agammaglobulinemia, Monocytosis, Reduced ... |
OMIM:615592 |
| Fragile X Syndrome |
|
Congenital macroorchidism, Hyperactivity, Folate-dependent fragile site at Xq28, Macroorchidism, ... |
OMIM:300624 |
| Ciliary Dyskinesia, Primary, 50 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:620356 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:108420 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... |
ORPHA:399805 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Distal sensory impairment, Orthostatic hypotension, Abnormal upper motor neuron morphology, Gait ... |
OMIM:263570 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Defective T cell proliferation, Mediastinal lymphadenopathy, Lymphad... |
OMIM:618534 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Anemia, Partial absence of specific antibody r... |
OMIM:301082 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... |
OMIM:300400 |
| Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... |
OMIM:618261 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
| Caspase 8 Deficiency |
|
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Decreased CD4:CD8 ratio, Complete or ... |
OMIM:607271 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
ORPHA:70593 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... |
OMIM:613500 |
| Immunodeficiency, Common Variable, 1 |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutro... |
OMIM:607594 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia |
OMIM:247800 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... |
OMIM:212050 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Facial palsy, Decreased compound muscle action potential amp... |
OMIM:301830 |
| Boucher-Neuhauser Syndrome |
|
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Cerebellar atrophy, Gait ataxia,... |
OMIM:215470 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... |
OMIM:613501 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... |
ORPHA:169079 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism |
ORPHA:3000 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
| Immunodeficiency 95 |
|
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia |
OMIM:619773 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... |
OMIM:612692 |
| N Syndrome |
|
Abnormality of chromosome stability, Cryptorchidism, Leukemia |
OMIM:310465 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... |
OMIM:615214 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne... |
OMIM:619281 |
| Spermatogenic Failure 28 |
|
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... |
OMIM:618086 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Ataxia, Amyotrophic lateral sclerosis |
ORPHA:300605 |
| Immunodeficiency 11A |
|
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... |
OMIM:615206 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L... |
ORPHA:277 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... |
OMIM:616636 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho... |
OMIM:614470 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620438 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ... |
OMIM:620430 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... |
OMIM:618986 |
| Machado-Joseph Disease Type 3 |
|
Progressive cerebellar ataxia, Degeneration of the striatum, Cerebellar atrophy, Progressive gait... |
ORPHA:276244 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cerebral atrophy, Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, ... |
OMIM:611890 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Dysgammaglobulinemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Lymphocyt... |
OMIM:308240 |
| Immunodeficiency 48 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Splenomegal... |
OMIM:269840 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... |
OMIM:613502 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... |
OMIM:617052 |
| Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat... |
ORPHA:169154 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... |
OMIM:615285 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... |
OMIM:605258 |
| Fragile X Syndrome |
|
Attention deficit hyperactivity disorder, Folate-dependent fragile site at Xq28, Macroorchidism, ... |
ORPHA:908 |
| Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Decreased circulating antibody level, Abnormal testis morpho... |
ORPHA:100 |
| Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615842 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... |
OMIM:618982 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... |
OMIM:614699 |
| Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Spastic gait, Atrophy of the spinal cord, Cervical spinal... |
ORPHA:35689 |
| Fanconi Anemia, Complementation Group S |
|
Ovarian carcinoma, Chromosome breakage, Ovarian neoplasm, Anemia |
OMIM:617883 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
| Bloom Syndrome |
|
Azoospermia, Abnormality of chromosome stability, Cryptorchidism, Decreased circulating IgG level... |
OMIM:210900 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased circulating complement C3 concentration, Follicular hyperplasia, Autoimmune hemolytic a... |
OMIM:615559 |
| Immunodeficiency, Common Variable, 13 |
|
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia |
OMIM:616873 |
| Fanconi Anemia, Complementation Group Q |
|
Bone marrow hypocellularity, Chromosome breakage |
OMIM:615272 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... |
ORPHA:444463 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in childhood, Decreased circulating antibody level, Death in adolescence, Leukocytosis, Dea... |
OMIM:618042 |
| Immunodeficiency 97 With Autoinflammation |
|
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... |
OMIM:619802 |
| Amyotrophic Lateral Sclerosis |
|
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy |
ORPHA:803 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking |
ORPHA:2590 |
| Mu-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... |
OMIM:202700 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... |
OMIM:619705 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... |
OMIM:618108 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... |
OMIM:618944 |
| Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c... |
OMIM:619510 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst |
OMIM:619549 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... |
OMIM:608106 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of infection, Increased ... |
ORPHA:98813 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
| Icf Syndrome |
|
Anemia, Abnormality of chromosome stability, Decreased circulating antibody level, Lymphopenia, A... |
ORPHA:2268 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... |
ORPHA:2585 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Anorexia, Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Dec... |
ORPHA:169160 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... |
OMIM:241600 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Neutropenia, ... |
OMIM:609053 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... |
OMIM:601859 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneumococcus vacci... |
OMIM:240500 |
| Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens |
ORPHA:48 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... |
OMIM:618048 |
| Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615841 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Axonal degeneration |
OMIM:604320 |
| Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Anemia, Bone marrow hypocellularity, Throm... |
OMIM:603467 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... |
OMIM:301077 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Pancytopenia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal brea... |
OMIM:227645 |
| Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Lymph ... |
OMIM:602450 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural... |
OMIM:613101 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Abno... |
ORPHA:275872 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Pancytopenia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal brea... |
OMIM:600901 |
| Progressive Non-Fluent Aphasia |
|
Frontotemporal cerebral atrophy, Senile plaques, Abnormal lower motor neuron morphology, Temporal... |
ORPHA:100070 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Incre... |
OMIM:102700 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased proportion of CD3-posit... |
ORPHA:276 |
| Immunodeficiency 92 |
|
Abnormal B cell proliferation, Thrombocytosis, Decreased proportion of class-switched memory B ce... |
OMIM:619652 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... |
OMIM:614069 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma... |
OMIM:150550 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Pancytopenia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal brea... |
OMIM:227650 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... |
OMIM:301081 |
| Immunodeficiency 13 |
|
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
| Activated Pi3K-Delta Syndrome |
|
Lymphadenopathy, B lymphocytopenia, Decreased circulating antibody level, Increased circulating I... |
ORPHA:397596 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Lymphadenopathy, Iron deficiency a... |
OMIM:603909 |
| Idiopathic Camptocormia |
|
Cerebral atrophy, Syringomyelia, Amyotrophic lateral sclerosis, Myelitis |
ORPHA:1320 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... |
OMIM:610163 |
| Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... |
OMIM:607676 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Cerebral atrophy, Gait disturbance, Caudate atrophy |
OMIM:221770 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Bone marrow hypocellularity, Chromosome breakage, Attention deficit hyperactivity disorde... |
OMIM:614083 |
| 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 |
| Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... |
ORPHA:482 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... |
ORPHA:99429 |
| Immunodeficiency 9 |
|
Abnormal natural killer cell count, Hypoplasia of the thymus, Death in infancy, Decreased circula... |
OMIM:612782 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased circulating tot... |
OMIM:620210 |
| Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... |
OMIM:619374 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... |
OMIM:618116 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Anemia, Pancytopenia, Deficient excision of UV-induced pyrimidine dimers in DNA... |
OMIM:227646 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... |
ORPHA:90797 |
| Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Cryptorchidism, Anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
| Leishmaniasis |
|
Anorexia, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnormal m... |
ORPHA:507 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, Bone marrow hy... |
OMIM:301078 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... |
OMIM:600802 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory... |
OMIM:618394 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Decreased c... |
OMIM:613011 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Decreased circulating antibody level, Decreased cir... |
OMIM:616100 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:611926 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia |
OMIM:193670 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Spastic gait, Abnormal upper motor neuron morphology, Gait disturbance, Gait ataxia, Corpus callo... |
OMIM:601162 |
| Omenn Syndrome |
|
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... |
OMIM:603554 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... |
OMIM:619767 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells |
OMIM:271225 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... |
OMIM:308230 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... |
ORPHA:35078 |
| Systemic Lupus Erythematosus 17 |
|
Decreased circulating complement C3 concentration, Leukopenia, Thrombocytopenia, Lymphopenia, Aut... |
OMIM:301080 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess |
OMIM:612260 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... |
OMIM:606367 |
| Immunodeficiency 46 |
|
Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Lig4 Syndrome |
|
Acute leukemia, Lymphadenopathy, Pancytopenia, Abnormality of chromosome stability, Leukocytosis,... |
ORPHA:99812 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... |
OMIM:619752 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG level, Thrombocy... |
OMIM:620603 |
| Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De... |
OMIM:617780 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia |
ORPHA:217390 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology, Cryptorchidism |
OMIM:616910 |
| Adult Idiopathic Neutropenia |
|
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia |
ORPHA:2688 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Chromosomal breakage induced by ionizing radiation, Decreased circul... |
ORPHA:420741 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Generalized lymphadenopathy, Lymphadenopathy, Pancytopenia, Decrease... |
OMIM:614700 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity, Lymphopenia, T lymphocytopenia, Hepatosplenomegaly, Aplasia of ... |
OMIM:242700 |
| Bone Marrow Failure Syndrome 5 |
|
Short stature, Testicular atrophy, Hypogonadism, Growth delay |
OMIM:618165 |
| Classic Galactosemia |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... |
ORPHA:79239 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Splenomegaly |
OMIM:300635 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... |
OMIM:235200 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Immunodeficiency 32B |
|
Anemia, Abnormal circulating IgG level, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegal... |
OMIM:226990 |
| Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Decreased circulating antibody ... |
OMIM:615122 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Leukopenia |
ORPHA:33355 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased testicular size, Short sta... |
OMIM:616113 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... |
ORPHA:8 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... |
ORPHA:572 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Death in childhood, Impaired lymphocyte transformation with phytohem... |
OMIM:243150 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... |
OMIM:618849 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Weight l... |
ORPHA:465508 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... |
ORPHA:453533 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... |
ORPHA:3261 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Cerebellar atrophy, Gait disturbance, Ataxia, Loss of ambulation, Abnormal lower m... |
OMIM:614298 |
| Agammaglobulinemia, X-Linked |
|
Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig... |
OMIM:300755 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Short stature, Failure to thrive, Elevated circulating... |
OMIM:305400 |
| Pgm3-Cdg |
|
Increased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... |
ORPHA:443811 |
| Immunodeficiency 96 |
|
Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-... |
OMIM:619774 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Abnormality of chromosome stability, Thrombocytopenia, Death in infancy |
OMIM:300514 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level... |
OMIM:601495 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia |
OMIM:615190 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... |
ORPHA:1772 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Growth delay, Testicular atrophy |
OMIM:613987 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:436159 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism |
ORPHA:2239 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Sézary Syndrome |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level |
ORPHA:3162 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
| Griscelli Syndrome |
|
Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, S... |
ORPHA:381 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc... |
ORPHA:90362 |
| Hereditary Folate Malabsorption |
|
Anorexia, Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytope... |
ORPHA:90045 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... |
OMIM:613179 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Lymphadenopathy, Lymphadenitis, Granuloma, Hepatosplenomegaly, Splenomegaly, Ab... |
OMIM:618935 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Motor stereotypy, Lymphopenia |
ORPHA:391307 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
ORPHA:221139 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic... |
OMIM:208900 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615966 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Increased circulating IgG level, Increased circulating IgA level, Paratracheal lymphadeno... |
OMIM:615934 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Wolfram Syndrome 1 |
|
Diabetes insipidus, Growth delay, Hypothyroidism, Diabetes mellitus, Testicular atrophy |
OMIM:222300 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, L... |
ORPHA:540 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... |
OMIM:616084 |
| Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Thrombocytopenia, Leukopenia, Dysphagia, Lymphopenia |
ORPHA:319218 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia |
OMIM:616576 |
| Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Chromosomal breakage induc... |
ORPHA:2495 |
| Good Syndrome |
|
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... |
ORPHA:169105 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... |
ORPHA:760 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Accessory spleen, Cryptorchidism, Decreased circulating IgG level, Severe B lymphocytopen... |
OMIM:620005 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphadenopathy, Decreased eosinophil count, Tooth abscess, Thrombocytopenia, L... |
ORPHA:2686 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal lymphocyte morphology, Decreased ... |
ORPHA:293978 |
| Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Decreased circulating antibody level, Splenomegaly, Lymphopenia |
OMIM:605309 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... |
OMIM:615952 |
| Igg4-Related Aortitis |
|
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... |
ORPHA:449400 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... |
ORPHA:508542 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... |
OMIM:301000 |
| Immunodeficiency 47 |
|
Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati... |
OMIM:300972 |
| Immunodeficiency 23 |
|
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... |
OMIM:615816 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphadenopathy, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Ly... |
OMIM:617591 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... |
OMIM:242900 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability, Decreased circulating antibody level, Anemia, Neutropenia |
ORPHA:175 |
| Gaucher Disease Type 1 |
|
Anorexia, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopenia, Splenic inf... |
ORPHA:77259 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anorexia, Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased ... |
OMIM:619381 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... |
ORPHA:85450 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Increased circulating IgA level, Abnor... |
OMIM:300291 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating antibody leve... |
ORPHA:449432 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Acute leukemia, Abnormality of chromosome stability, Thrombocytopeni... |
ORPHA:647 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Neutropenia, Lymphopenia |
OMIM:620443 |
| Common Variable Immunodeficiency |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Autoimmune thro... |
ORPHA:1572 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Agitation, Anemia, Lymphadenopathy, Pancytopenia, Decreased circulating antibody level, Leukocyto... |
OMIM:615688 |
| Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... |
ORPHA:79324 |
| Bloom Syndrome |
|
Premature ovarian insufficiency, Male infertility, Azoospermia, Severe postnatal growth retardati... |
ORPHA:125 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Decreased response to growth hormone stimulation test, Abnormal T cell count, Panhypogammaglobuli... |
OMIM:307200 |
| Lesch-Nyhan Syndrome |
|
Short stature, Testicular atrophy |
OMIM:300322 |
| Fanconi Anemia |
|
Anemia, Azoospermia, Abnormality of chromosome stability, Abnormal testis morphology, Leukopenia,... |
ORPHA:84 |
| Vici Syndrome |
|
Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4... |
OMIM:242840 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia |
OMIM:301110 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia |
OMIM:617827 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Cryptorchidism, Anemia, Lymphopenia |
OMIM:620365 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Hepatos... |
OMIM:612541 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen... |
OMIM:127550 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Hyperactivity, B lymphocytopenia, T lymphocyto... |
OMIM:251260 |
| Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Facial palsy, Paucity of anterior horn motor ... |
ORPHA:79139 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Anemia, Lymphopenia |
ORPHA:935 |
| Multiple Myeloma |
|
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... |
ORPHA:29073 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Increased circulating interleukin 6 concentration, Anemia, Congenital hydrocele, Parotitis, Incre... |
OMIM:620376 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227990 |
| Whim Syndrome |
|
Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, L... |
ORPHA:51636 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal circulating interferon-gamma concentration, Autoimmune hemolytic anemia, B lymphocytopen... |
ORPHA:391487 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227982 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Severe B lymphocyt... |
ORPHA:83617 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... |
ORPHA:906 |
| Primary Sjögren Syndrome |
|
Decreased circulating complement C3 concentration, Normocytic anemia, Increased circulating antib... |
ORPHA:289390 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Abnormality of the Leydig cells, Short stature, Cryptorchidism, Testicular atrophy |
ORPHA:3063 |
| Steinert Myotonic Dystrophy |
|
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... |
ORPHA:273 |
| Cystinosis, Nephropathic |
|
Delayed puberty, Male infertility, Primary hypothyroidism, Short stature, Failure to thrive, Grow... |
OMIM:219800 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopat... |
OMIM:181000 |
| Cystic Fibrosis |
|
Absent vas deferens, Male infertility, Decreased body mass index, Failure to thrive |
ORPHA:586 |
| Noonan Syndrome 1 |
|
Postnatal growth retardation, Male infertility, Hypospadias, Short stature, Hypogonadism, Failure... |
OMIM:163950 |
| Cystic Fibrosis |
|
Failure to thrive, Male infertility |
OMIM:219700 |
| Myxoid/Round Cell Liposarcoma |
|
|
ORPHA:99967 |
| Tremor, Hereditary Essential, 4 |
|
|
OMIM:614782 |
