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 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
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 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 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
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 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 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
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 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
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 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
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 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 25 |
|
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... |
OMIM:617960 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia |
OMIM:618110 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology, Infertility |
OMIM:136580 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia |
OMIM:615413 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Cognitive impairment, Male infertility |
ORPHA:276183 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Spermatogenic Failure 77 |
|
Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia |
OMIM:620103 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Late spermatogenesis maturation arrest |
OMIM:615842 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Beta-Thalassemia |
|
Anemia, Hypogonadotropic hypogonadism, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Micro... |
ORPHA:848 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility, Splenomegaly |
OMIM:602271 |
Ciliary Dyskinesia, Primary, 14 |
|
Polysplenia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility |
ORPHA:3000 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology |
ORPHA:320391 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Reduced sperm motility |
OMIM:615500 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm |
OMIM:242670 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility |
OMIM:612649 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm |
OMIM:613808 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Polysplenia, Reduced progressive sperm motility |
OMIM:619608 |
Ring Chromosome Y Syndrome |
|
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... |
ORPHA:261529 |
Lead Poisoning |
|
Anemia, Abnormal T cell morphology, Decreased female libido, Infertility, Abnormality of the mens... |
ORPHA:330015 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility |
OMIM:615444 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Beta-Thalassemia Intermedia |
|
Hypogonadism, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence o... |
ORPHA:231222 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
Foxg1 Syndrome |
|
Abnormal repetitive mannerisms, Bruxism, Stereotypical hand wringing |
ORPHA:561854 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:352490 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Primary Ciliary Dyskinesia |
|
Asplenia, Abnormal sperm motility, Polysplenia, Female infertility, Male infertility |
ORPHA:244 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms |
ORPHA:280763 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
48,Xxyy Syndrome |
|
Infertility, Azoospermia, Hypergonadotropic hypogonadism, Abnormal repetitive mannerisms |
ORPHA:10 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Behavioral Variant Of Frontotemporal Dementia |
|
Collectionism, Abnormal repetitive mannerisms |
ORPHA:275864 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Male infertility, Hypergonadotropic hypogonadism, Thromb... |
OMIM:227650 |
Hydroxykynureninuria |
|
Hypotension, Tachycardia, Abnormal repetitive mannerisms |
ORPHA:79155 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Hypogonadism, Hypertension, Congestive heart failure, Hepatosplen... |
ORPHA:85450 |
Christianson Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:85278 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:411986 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Myocardial infarction, Abnormal repetitive mannerisms |
ORPHA:457240 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Abnormal repetitive mannerisms |
ORPHA:391307 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms, Hepatosplenomegaly |
ORPHA:397612 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Mitral regurgitation, Abnormal repetitive mannerisms |
ORPHA:313892 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal repetitive mannerisms |
ORPHA:79264 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Abnormal repetitive mannerisms, Hypogonadism |
ORPHA:3306 |
Androgen Insensitivity Syndrome |
|
Male infertility |
ORPHA:754 |
22Q11.2 Duplication Syndrome |
|
Aplasia/Hypoplasia of the thymus, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
Bilateral Generalized Polymicrogyria |
|
Abnormal repetitive mannerisms |
ORPHA:208447 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Abnormal repetitive mannerisms, Cerebral ischemia |
ORPHA:927 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:319671 |
4Q21 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:238750 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
47,Xyy Syndrome |
|
Oligospermia, Male infertility, Azoospermia |
ORPHA:8 |
2Q23.1 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228402 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Male infertility |
OMIM:244400 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Abnormal repetitive mannerisms |
ORPHA:500159 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Lamb-Shaffer Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:530983 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Blackfan-Diamond Anemia |
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Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:572013 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Azoospermia, Male sexual dysfunction, Primary amenorrhea |
ORPHA:90797 |
Transketolase Deficiency |
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Compulsive behaviors, Abnormal repetitive mannerisms, Secondary amenorrhea |
ORPHA:488618 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Recurrent hand flapping, Hypertension, Abnormal repetitive mannerisms |
ORPHA:449291 |
Complete Androgen Insensitivity Syndrome |
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Male infertility, Primary amenorrhea |
ORPHA:99429 |
Cystinosis |
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Portal hypertension, Abnormal repetitive mannerisms |
ORPHA:213 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, Obsessive-compulsive trait |
ORPHA:168491 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |
Smith-Magenis Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:819 |
3P25.3 Microdeletion Syndrome |
|
Pulmonic stenosis, Abnormal repetitive mannerisms |
ORPHA:435638 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms |
ORPHA:261144 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased fertility, Irregular menstruation, Male hypogonadism, Male infertility, Primary amenorrhea |
ORPHA:90793 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Aromatase Deficiency |
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Female infertility, Male infertility, Hypergonadotropic hypogonadism, Primary amenorrhea |
ORPHA:91 |
2Q37 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1001 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Rett Syndrome |
|
Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:778 |
Bloom Syndrome |
|
Acute myeloid leukemia, Premature ovarian insufficiency, Abnormal proportion of CD8-positive T ce... |
ORPHA:125 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms |
ORPHA:98784 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:476126 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:2479 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal repetitive mannerisms |
ORPHA:300570 |
Kleefstra Syndrome |
|
Abnormal repetitive mannerisms, Arrhythmia |
ORPHA:261494 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:457279 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:261197 |
Prader-Willi Syndrome Due To Translocation |
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Hypogonadotropic hypogonadism, Head-banging, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:177907 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:457351 |
White-Sutton Syndrome |
|
Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:468678 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:496641 |
7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Collectionism, Abnormal repetitive mannerisms |
ORPHA:96121 |
46,Xy Partial Gonadal Dysgenesis |
|
Decreased fertility in females, Azoospermia, Male infertility, Hypergonadotropic hypogonadism, Pr... |
ORPHA:251510 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Repetitive compulsive behavior, Abnormal repetitive mannerisms |
ORPHA:522077 |
Mucopolysaccharidosis Type 2 |
|
Enlarged tonsils, Hypertension, Abnormal repetitive mannerisms, Arrhythmia, Splenomegaly, Cardiom... |
ORPHA:580 |
Renal Cysts And Diabetes Syndrome |
|
Reduced sperm motility |
OMIM:137920 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508533 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Aortic valve stenosis, Abnormal repetitive mannerisms |
ORPHA:464311 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Abnormal repetitive mannerisms |
ORPHA:464306 |
1P36 Deletion Syndrome |
|
Telangiectasia, Hypogonadism, Dilated cardiomyopathy, Abnormal repetitive mannerisms, Abnormality... |
ORPHA:1606 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Abnormal repetitive mannerisms |
ORPHA:508498 |
Carney Complex |
|
Oligospermia, Decreased fertility in males, Abnormal sperm motility |
ORPHA:1359 |
Wiedemann-Steiner Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:319182 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Abnormal repetitive mannerisms |
ORPHA:447997 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal repetitive mannerisms |
ORPHA:468631 |
Cystic Fibrosis |
|
Male infertility, Hepatosplenomegaly |
OMIM:219700 |
Oculocerebrorenal Syndrome Of Lowe |
|
Azoospermia, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:534 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Stereotypical body rocking, Repetitive compulsive behavior, Abnormal repetitive mannerisms |
ORPHA:513456 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Neoplasm of the thymus, Abnormal repetitive mannerisms |
ORPHA:217253 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Cardiac conduction abnormality, Aortic valv... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Cardiac conduction abnormality, Aortic valv... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Cardiac conduction abnormality, Aortic valv... |
ORPHA:353277 |
Mowat-Wilson Syndrome |
|
Asplenia, Abnormal repetitive mannerisms, Oligomenorrhea, Aortic valve stenosis, Pulmonic stenosi... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Abnormal repetitive mannerisms, Aortic valve stenosis, Pulmonic stenosis, Bruxism, Chordee |
ORPHA:261537 |
Norrie Disease |
|
Abnormal repetitive mannerisms, Erectile dysfunction |
ORPHA:649 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Hyphema, Abnormal repetitive mannerisms, Aortic valve stenosis, Pulmonic stenosis, Brux... |
ORPHA:261552 |