| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| 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 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| 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 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| 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 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Abetalipoproteinemia |
|
Ataxia, Acanthocytosis |
OMIM:200100 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Huntington Disease |
|
Bradykinesia, Chorea, Gliosis, Gait ataxia |
OMIM:143100 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Developmental And Epileptic Encephalopathy 50 |
|
Broad-based gait, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia |
OMIM:616457 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Acanthocytosis |
OMIM:615558 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis |
OMIM:213200 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Choreoacanthocytosis |
|
Progressive choreoathetosis, Acanthocytosis |
OMIM:200150 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Bradykinesia, Gliosis, Gait disturbance, Shuffling gait |
OMIM:221820 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Bradykinesia, Positive Rom... |
OMIM:607136 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Impaired p... |
ORPHA:96180 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Gait ataxia, Gliosis, Gait disturbance, Gait imbalance |
OMIM:618369 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| L-2-Hydroxyglutaric Aciduria |
|
Ataxia, Gliosis |
OMIM:236792 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Abetalipoproteinemia |
|
Impaired vibratory sensation, Reticulocytosis, Broad-based gait, Ataxia, Impaired distal proprioc... |
ORPHA:14 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Mcleod Syndrome |
|
Splenomegaly, Acanthocytosis, Chorea, Impaired vibration sensation at ankles |
OMIM:300842 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Gliosis |
OMIM:300857 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Gliosis, Distal sensory impairment |
OMIM:604484 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Acanthocytosis, Choreoathetosis, Tip-toe gait, Gait disturbance, Loss of ambulation |
ORPHA:157850 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Unsteady gait, Gait disturbance, Gliosis |
OMIM:603896 |
| Chylomicron Retention Disease |
|
Impaired proprioception, Acanthocytosis |
ORPHA:71 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Inappropriate behavior, Gait disturbance, Gliosis |
OMIM:221770 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Gliosis |
OMIM:613002 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Unsteady gait, Ataxia, Gliosis, Impaired social interactions |
OMIM:256600 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Cerebellar gliosis, Lateral v... |
ORPHA:79243 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Poikilocytosis, Akinesia, Acanthocytosis |
OMIM:618947 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Huntington Disease-Like 1 |
|
Chorea, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Gliosis |
ORPHA:157941 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Acanthocytosis, Choreoathetosis, Bradykinesia, Gait disturbance |
OMIM:234200 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Progressive Supranuclear Palsy |
|
Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Falls, Gliosis |
ORPHA:683 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Anemia |
OMIM:615789 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Astrocytosis |
ORPHA:204 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Pick Disease Of Brain |
|
Gliosis, Inappropriate laughter |
OMIM:172700 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Choreoacanthocytosis |
|
Impaired vibratory sensation, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Ch... |
ORPHA:2388 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Gliosis, Difficulty walking |
ORPHA:280210 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Developmental And Epileptic Encephalopathy 14 |
|
Gliosis |
OMIM:614959 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Ataxia, Limb ataxia, Bradykinesia, Progressive cerebellar ataxia, G... |
OMIM:109150 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly... |
ORPHA:822 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis |
OMIM:225753 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis, Distal sensory impairment |
OMIM:604218 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Ataxia, Gliosis |
OMIM:612936 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Hsd10 Disease |
|
Choreoathetosis, Abnormal social behavior, Ataxia, Gait disturbance |
ORPHA:391417 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Progressive cerebellar ataxia, Gliosis |
ORPHA:275872 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Agenesis of corpus callosum, Gliosis |
ORPHA:168486 |
| Parkinson Disease 1, Autosomal Dominant |
|
Bradykinesia, Gliosis, Gait disturbance, Shuffling gait, Loss of ambulation |
OMIM:168601 |
| Leigh Syndrome |
|
Ataxia, Gliosis |
OMIM:256000 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Gait disturbance, Gliosis |
OMIM:300957 |
| Hemimegalencephaly |
|
Gliosis |
ORPHA:99802 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea... |
OMIM:616084 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Gliosis |
ORPHA:457240 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... |
OMIM:615513 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Gliosis |
OMIM:615095 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Gliosis |
OMIM:169500 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Ataxia, Chorea, Gait ataxia, Gliosis, Lethargy |
OMIM:618321 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Ataxia, Splenomegaly, Inability to walk, Stomatocytosis |
OMIM:608885 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... |
OMIM:153670 |
| Familial Acute Necrotizing Encephalopathy |
|
Gait disturbance, Gliosis |
ORPHA:88619 |
| Glucagonoma |
|
Normochromic anemia, Acanthocytosis |
ORPHA:97280 |
| Lissencephaly, X-Linked, 2 |
|
Agenesis of corpus callosum, Gliosis |
OMIM:300215 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Agenesis of corpus callosum, Gliosis |
OMIM:214150 |
| Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Limb ataxia, Gait ataxia, Decreased circulating antibody le... |
OMIM:248500 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis |
OMIM:105550 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Basal ganglia gliosis, Gliosis |
OMIM:604377 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Basal ganglia gliosis, Gliosis, Anemia |
OMIM:614946 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Decreased proportion of CD8-positive ... |
ORPHA:217260 |
| Leigh Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Athetosis, Gliosis, Neutropenia, Agenesis of corpus callosum, An... |
ORPHA:506 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Fatigable weakness of neck muscles, Gliosis |
ORPHA:26791 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Inability to walk, Ataxia, Gliosis |
OMIM:617193 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Ataxia, Hepatosplenomegaly |
ORPHA:168577 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Gliosis, Thrombocytopenia |
ORPHA:3240 |
| Hereditary Late-Onset Parkinson Disease |
|
Bradykinesia, Gliosis, Shuffling gait, Akinesia |
ORPHA:411602 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Falls, Gliosis, Difficulty walking |
OMIM:618222 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Gliosis |
OMIM:614498 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Agenesis of corpus callosum, Gliosis |
OMIM:616239 |
| Tay-Sachs Disease |
|
Inability to walk, Dysmetria, Hepatosplenomegaly, Gait disturbance, Gliosis |
ORPHA:845 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Gliosis |
OMIM:277470 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
| Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Astrocytosis, Bradykinesia, Gliosis, Falls, Gait imbalance |
OMIM:601104 |
| Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten... |
OMIM:603903 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Bradykinesia, Gliosis, Falls, Gait imbalance |
OMIM:609454 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Gliosis |
OMIM:619847 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Splenomegaly, Gliosis, Truncal ataxia, Thrombocytopenia |
OMIM:301072 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior |
ORPHA:444002 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
| Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Ataxia |
ORPHA:530983 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Inability to walk, Chorea, Splenomegaly, Athetosis, Gliosis, Fatigable weakness of speech muscles |
ORPHA:404454 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Paresthesia, Poikilocy... |
ORPHA:79277 |
| Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... |
ORPHA:330015 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation, Gliosis |
OMIM:607485 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Gliosis |
ORPHA:261652 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior, Progressive gait ataxia, Tip-toe gait, Gait ataxia |
ORPHA:309256 |
| 8P11.2 Deletion Syndrome |
|
Splenomegaly, Hemolytic anemia, Spherocytosis |
ORPHA:251066 |
| Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Chorea, Dysmetria, Athetosis, Gliosis |
OMIM:615273 |
| Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:90038 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
| Cockayne Syndrome |
|
Somatic sensory dysfunction, Ataxia, Inability to walk, Splenomegaly, Progressive gait ataxia, Ga... |
ORPHA:191 |
| Cerebrotendinous Xanthomatosis |
|
Somatic sensory dysfunction, Gait disturbance, Gliosis, Ataxia |
ORPHA:909 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Gliosis, Astrocytosis |
OMIM:203700 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Ataxia |
ORPHA:1020 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis |
ORPHA:86818 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... |
OMIM:227650 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:2785 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Gait disturbance, Gliosis, Ataxia |
ORPHA:268261 |
| D-Bifunctional Protein Deficiency |
|
Splenomegaly, Gliosis |
OMIM:261515 |
| Papillorenal Syndrome |
|
Gliosis |
OMIM:120330 |
| Helsmoortel-Van Der Aa Syndrome |
|
Lateral ventricle dilatation, Gliosis, Impaired social interactions |
OMIM:615873 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Gliosis |
OMIM:252160 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Elliptocytosis, Anemia |
OMIM:300990 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis |
OMIM:252150 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Agenesis of corpus callosum, Gliosis |
ORPHA:506358 |
| Metachromatic Leukodystrophy, Adult Form |
|
Progressive gait ataxia, Abnormal social behavior, Chorea, Difficulty walking |
ORPHA:309271 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ataxia, Gliosis |
OMIM:124000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Partial agenesis of the corpus callosum, Dysmetria, Gliosis, Truncal ataxia |
OMIM:220111 |
| Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, Abnorm... |
ORPHA:314647 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation, Gliosis |
OMIM:300868 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive gait ataxia, Abnormal social behavior |
ORPHA:309263 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal social behavior |
ORPHA:93932 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
| Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Testicular ... |
ORPHA:1359 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Gliosis |
OMIM:617403 |
| 48,Xxxy Syndrome |
|
Abnormal social behavior |
ORPHA:96263 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
| Niemann-Pick Disease Type C |
|
Ataxia, Bone-marrow foam cells, Splenomegaly, Chorea, Hepatosplenomegaly, Progressive gait ataxia... |
ORPHA:646 |
| Diets-Jongmans Syndrome |
|
Gliosis |
OMIM:618846 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal social behavior |
ORPHA:1675 |
| Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Abnormal social behavior, Impaired social interactions |
ORPHA:177907 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior |
ORPHA:64280 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Agenesis of corpus callosum, Inappropriate laughter, Overfriendliness |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Agenesis of corpus callosum, Inappropriate laughter, Overfriendliness |
ORPHA:363958 |
| Williams Syndrome |
|
Ataxia, Dysmetria, Gait disturbance, Gait imbalance, Abnormal social behavior, Overfriendliness |
ORPHA:904 |
| Tuberous Sclerosis Complex |
|
Abnormal social behavior, Subependymal giant-cell astrocytoma |
ORPHA:805 |
| Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
| Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
