| 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 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 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 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 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| 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 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| 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 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| 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, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
| Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, 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 |
| 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 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| 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 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
| Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| 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 |
| Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
| Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Anisopoikilocytosis, Schistocytosis, Broad-based gait, Acanthocytosis |
OMIM:616457 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Abetalipoproteinemia |
|
Acanthocytosis, Ataxia |
OMIM:200100 |
| Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Delayed speech and language development, Limb ataxia, Ataxia, Dysmetria, Gliosis, Un... |
OMIM:213200 |
| Huntington Disease |
|
Gait ataxia, Gliosis, Bradykinesia, Chorea |
OMIM:143100 |
| Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Delayed speech and language development, Anisopoikilocytosis, Abnormal hemo... |
ORPHA:35858 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa |
OMIM:620103 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| 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 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Spastic gait, Delayed speech and language development, Ataxia, Abnormal erythrocyte morphology, I... |
ORPHA:96180 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Delayed speech and language development, Anisopoikilocytosis, Absent speech, Neutropenia |
OMIM:619835 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis, Ataxia |
OMIM:615558 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Limb ataxia, Ataxia, Positive Romberg sign, Dysmetria, Gliosis, Broad-based ... |
OMIM:607136 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Shuffling gait, Gait disturbance, Gliosis, Bradykinesia |
OMIM:221820 |
| Choreoacanthocytosis |
|
Progressive choreoathetosis, Acanthocytosis |
OMIM:200150 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gait ataxia, Spastic ataxia, Gait imbalance, Gait disturbance, Gliosis |
OMIM:618369 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Palilalia, Tip-toe gait, Choreoathetosis, Gait disturbance, Loss of ambulation, Speech articulati... |
ORPHA:157850 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec... |
ORPHA:300298 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
| Abetalipoproteinemia |
|
Gait ataxia, Anemia, Ataxia, Positive Romberg sign, Reticulocytosis, Impaired proprioception, Dys... |
ORPHA:14 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
| Mcleod Syndrome |
|
Chorea, Impaired vibration sensation at ankles, Splenomegaly, Acanthocytosis |
OMIM:300842 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Gliosis |
OMIM:300857 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Distal sensory impairment, Gliosis |
OMIM:604484 |
| Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Delayed speech and language development, Normocytic anemia, Absent speech, Poikilocytos... |
OMIM:618947 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Lethargy, Gait disturbance, Gliosis |
OMIM:603896 |
| Chylomicron Retention Disease |
|
Impaired proprioception, Acanthocytosis |
ORPHA:71 |
| Beta-Thalassemia Major |
|
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Chorea, Delayed speech and language development, Gait disturbance, Dysmetria, Gliosi... |
ORPHA:157941 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Late spermatogenesis maturation arrest |
OMIM:615842 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Gliosis |
OMIM:613002 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
| Progressive Supranuclear Palsy |
|
Falls, Delayed speech and language development, Abnormal synaptic transmission, Gliosis, Unsteady... |
ORPHA:683 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Palilalia, Bradykinesia, Akinesia, Choreoathetosis, Gait disturbance, Ataxia, Acanthocytosis |
OMIM:234200 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Inability to walk, Lateral ventricle dilatation, Ataxia, Cerebellar gliosi... |
ORPHA:79243 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
| Pick Disease Of Brain |
|
Language impairment, Echolalia, Gliosis |
OMIM:172700 |
| Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Ataxia, Absent speech, Dystonic gait, Difficulty walking, Gliosis |
ORPHA:280210 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Impaired social interactions, Delayed speech and language development, Ataxia, Gliosis, Unsteady ... |
OMIM:256600 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gait disturbance, Gliosis, Lateral ventricle dilatation |
OMIM:221770 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Anemia |
OMIM:615789 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis, Ataxia |
ORPHA:204 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly |
OMIM:615234 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
| Lathosterolosis |
|
Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc... |
OMIM:607330 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
| Lathosterolosis |
|
Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis |
ORPHA:46059 |
| Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Delayed speech and language development, Gait disturbance, Gliosis |
OMIM:300957 |
| Developmental And Epileptic Encephalopathy 14 |
|
Gliosis |
OMIM:614959 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... |
OMIM:613807 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... |
ORPHA:320391 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
| Machado-Joseph Disease |
|
Truncal ataxia, Limb ataxia, Ataxia, Gliosis, Impaired vibratory sensation, Progressive cerebella... |
OMIM:109150 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Delayed speech and language development, Gait disturbance, Gliosis |
ORPHA:457240 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Ataxia... |
ORPHA:822 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P... |
ORPHA:288 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis |
OMIM:225753 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Distal sensory impairment, Gliosis |
OMIM:604218 |
| Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Progressive cerebellar ataxia, Gliosis |
ORPHA:275872 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Ataxia |
OMIM:612936 |
| Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... |
ORPHA:824 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... |
ORPHA:98870 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Inability to walk, Ataxia, Absent speech, Splenomegaly |
OMIM:608885 |
| L-2-Hydroxyglutaric Aciduria |
|
Gliosis, Ataxia |
OMIM:236792 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Gliosis, Agenesis of corpus callosum |
ORPHA:168486 |
| Choreoacanthocytosis |
|
Chorea, Bradykinesia, Falls, Lateral ventricle dilatation, Abnormal erythrocyte enzyme level, Los... |
ORPHA:2388 |
| Leigh Syndrome |
|
Gliosis, Ataxia |
OMIM:256000 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
| Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... |
OMIM:258900 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Delayed speech and language development, Pancytopenia, Ataxia, Gliosis, Leth... |
OMIM:618321 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Decreased female libido, Decreased testicular size, Oligomenorrhea, Azoosper... |
ORPHA:52901 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
| Hemimegalencephaly |
|
Gliosis |
ORPHA:99802 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Ataxia, Hypochromi... |
OMIM:616084 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Gait disturbance, Loss of ambulation, Gliosis, Bradykinesia |
OMIM:168601 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
| Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... |
OMIM:615513 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:612653 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Male infertility, Male pseudohermaphroditis... |
ORPHA:754 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons... |
OMIM:601775 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Gliosis, Ataxia |
OMIM:169500 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Gliosis, Agenesis of corpus callosum |
OMIM:615095 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... |
ORPHA:71275 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:182900 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Sitosterolemia 1 |
|
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... |
OMIM:210250 |
| Glucagonoma |
|
Acanthocytosis, Normochromic anemia |
ORPHA:97280 |
| Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185000 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Gliosis, Absent speech |
ORPHA:3240 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Inability to walk, Delayed speech and language development, Ataxia, Absent speech, Gliosis |
OMIM:617193 |
| Familial Acute Necrotizing Encephalopathy |
|
Gait disturbance, Gliosis |
ORPHA:88619 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Gliosis, Agenesis of corpus callosum |
OMIM:214150 |
| Lissencephaly, X-Linked, 2 |
|
Gliosis, Agenesis of corpus callosum |
OMIM:300215 |
| Mannosidosis, Alpha B, Lysosomal |
|
Gait ataxia, Decreased circulating antibody level, Limb ataxia, Gliosis, Vacuolated lymphocytes, ... |
OMIM:248500 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Gliosis, Basal ganglia gliosis |
OMIM:604377 |
| Elliptocytosis 1 |
|
Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis |
OMIM:105550 |
| Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Reduced sperm motility, Infertility |
OMIM:615444 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Basal ganglia gliosis, Gliosis, Anemia |
OMIM:614946 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
| Tay-Sachs Disease |
|
Inability to walk, Gait disturbance, Absent speech, Hepatosplenomegaly, Dysmetria, Gliosis, Speec... |
ORPHA:845 |
| Progressive Multifocal Leukoencephalopathy |
|
Gait ataxia, Somatic sensory dysfunction, Paresthesia, Decreased proportion of CD8-positive T cel... |
ORPHA:217260 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... |
OMIM:618278 |
| Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
| Leigh Syndrome |
|
Chorea, Anemia, Neutropenia, Choreoathetosis, Ataxia, Gliosis, Athetosis, Agenesis of corpus call... |
ORPHA:506 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Fatigable weakness of neck muscles, Gliosis, Inability to walk |
ORPHA:26791 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Delayed speech and language development, Moderate receptive language delay, Gliosis, Severe expre... |
ORPHA:261652 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Ataxia, Hepatosplenomegaly |
ORPHA:168577 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
| Hereditary Late-Onset Parkinson Disease |
|
Bradykinesia, Shuffling gait, Akinesia, Gliosis |
ORPHA:411602 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Gliosis, Difficulty walking, Falls |
OMIM:618222 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal ataxia, Ataxia, Absent speech, Gliosis, Thrombocytopenia, Splenomegaly |
OMIM:301072 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Gliosis, Agenesis of corpus callosum |
OMIM:616239 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Gliosis |
OMIM:614498 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Gliosis |
OMIM:277470 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:274150 |
| Sickle Cell Disease |
|
Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Leukocytosis, Increased red cel... |
OMIM:603903 |
| Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Falls, Akinesia, Gliosis, Astrocytosis, Bradykinesia |
OMIM:601104 |
| Supranuclear Palsy, Progressive, 2 |
|
Gait imbalance, Falls, Akinesia, Gliosis, Bradykinesia |
OMIM:609454 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Gliosis, Lateral ventricle dilatation |
OMIM:619847 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:235400 |
| Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Inability to walk, Absent speech, Fatigable weakness of speech muscles, Gliosis, Athetosi... |
ORPHA:404454 |
| Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Male inferti... |
ORPHA:99429 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| 47,Xyy Syndrome |
|
Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Male infertility, Varicocele, Cryptorchid... |
ORPHA:8 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ... |
ORPHA:251510 |
| Lead Poisoning |
|
Decreased female libido, Infertility, Abnormality of the menstrual cycle, Reduced sperm motility,... |
ORPHA:330015 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Paresthesia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis... |
ORPHA:79277 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Gliosis |
OMIM:602613 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Gliosis, Lateral ventricle dilatation |
OMIM:607485 |
| Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Splenomegaly, Spherocytosis |
ORPHA:251066 |
| Cockayne Syndrome |
|
Somatic sensory dysfunction, Inability to walk, Progressive gait ataxia, Gait disturbance, Ataxia... |
ORPHA:191 |
| Congenital Disorder Of Deglycosylation 1 |
|
Chorea, Dysmetria, Pain insensitivity, Gliosis, Athetosis |
OMIM:615273 |
| Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:90038 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased fertility, Irregular menstruation, Precocious puberty in females, Bifid scrotum, Bilate... |
ORPHA:90793 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Astrocytosis, Gliosis, Ataxia |
OMIM:203700 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gait disturbance, Ataxia, Absent speech, Gliosis, Broad-based gait |
ORPHA:268261 |
| Cerebrotendinous Xanthomatosis |
|
Somatic sensory dysfunction, Gait disturbance, Gliosis, Ataxia |
ORPHA:909 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Elliptocytosis, Delayed speech and language development, Anemia |
OMIM:300990 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis |
ORPHA:86818 |
| Gabriele-De Vries Syndrome |
|
Delayed speech and language development, Absent speech, Gliosis, Agenesis of corpus callosum, Wad... |
ORPHA:506358 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Elliptocytosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:2785 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Male infertility, Hypergonadotropic hypogonadism, Thromb... |
OMIM:227650 |
| Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Female in... |
ORPHA:91 |
| D-Bifunctional Protein Deficiency |
|
Splenomegaly, Gliosis |
OMIM:261515 |
| Helsmoortel-Van Der Aa Syndrome |
|
Echolalia, Lateral ventricle dilatation, Impaired social interactions, Absent speech, Gliosis |
OMIM:615873 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Truncal ataxia, Delayed speech and language development, Ataxia, Dysmetria, Partial agenesis of t... |
OMIM:220111 |
| Papillorenal Syndrome |
|
Gliosis |
OMIM:120330 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Gliosis, Absent speech, Lateral ventricle dilatation |
OMIM:300868 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Ovot... |
ORPHA:1772 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Gliosis |
OMIM:252160 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis |
OMIM:252150 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Gliosis, Ataxia |
OMIM:124000 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility |
ORPHA:85450 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Delayed speech and language development, Gliosis |
OMIM:617403 |
| Diets-Jongmans Syndrome |
|
Delayed speech and language development, Gliosis |
OMIM:618846 |
| Bloom Syndrome |
|
Acute myeloid leukemia, Abnormal proportion of CD8-positive T cells, Premature ovarian insufficie... |
ORPHA:125 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
| Renal Cysts And Diabetes Syndrome |
|
Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididymal cyst, Hypospadias, Hy... |
OMIM:137920 |
| Carney Complex |
|
Leydig cell neoplasia, Macroorchidism, Precocious puberty, Abnormal sperm motility, Testicular ad... |
ORPHA:1359 |
| Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
