Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
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 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... |
ORPHA:399805 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Azoospermia |
OMIM:615703 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... |
ORPHA:320391 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... |
ORPHA:52901 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Osteomesopyknosis |
|
Infertility, Increased bone mineral density |
OMIM:166450 |
Hyperlysinemia, Type I |
|
Anemia, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia |
OMIM:229070 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Spermatogenic Failure 28 |
|
Azoospermia, Decreased testicular size |
OMIM:618086 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease... |
OMIM:614837 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity |
OMIM:608747 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Tremor, Generalize... |
ORPHA:33445 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... |
OMIM:607624 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism |
OMIM:300200 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
47,Xyy Syndrome |
|
Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Azoospermia, Cryptorchidism,... |
ORPHA:8 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Primary amenorrhea, Decreased testicular size, Azoospermia, Premature ov... |
OMIM:612885 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Osteopenia, Oligomenorrhea, Menorrhagia, Osteoporosis, Female hypogonadism |
ORPHA:397685 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Hypogonadism |
OMIM:240950 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Melanocytic nevus, Abnormal hemoglobin, Anemia, Thrombocytopenia |
ORPHA:3319 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity, Frontal upsweep of hair, Optic atrophy, Tremor, Aggressive behavior |
OMIM:300983 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Functioning Gonadotropic Adenoma |
|
Amenorrhea, Infertility, Impotence, Ovarian cyst, Oligospermia, Abnormality of the menstrual cycl... |
ORPHA:91348 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus |
OMIM:606952 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism |
ORPHA:91351 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Optic atrophy, Tremor, Elbow flexion contracture, Aggressive behavior, Small nail |
OMIM:619470 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Absent eyebrow, Sparse eyelashes, Spars... |
ORPHA:189 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Lead Poisoning |
|
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... |
ORPHA:330015 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... |
OMIM:228300 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:126070 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism |
OMIM:614897 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Failure to thrive, Self-injurious behavior, Thick eyebrow, Hyperactivity, Long... |
OMIM:618362 |
Urocanase Deficiency |
|
Ataxia, Fair hair, Blue irides, Tremor, Aggressive behavior |
OMIM:276880 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... |
ORPHA:261519 |
Van Buchem Disease |
|
Optic atrophy from cranial nerve compression, Thickened cortex of long bones, Cranial hyperostosi... |
OMIM:239100 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism |
OMIM:602668 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Reduced bone mineral density, Peripheral ... |
ORPHA:891 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasi... |
OMIM:619165 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Azoospermia |
ORPHA:1445 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Precocious puberty, Oligomenorrhea, Oligospermia, Ambiguous genitalia, Female pseudo... |
ORPHA:786 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Mental deterioration, Tremor, Dystonia |
OMIM:615924 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Ataxia, Hyperactivity, Hypopigmentation of the skin, Hypopigmentation of hair, Ir... |
ORPHA:411515 |
Classic Phenylketonuria |
|
Self-injurious behavior, Hypopigmentation of the skin, Mental deterioration, Hypopigmentation of ... |
ORPHA:79254 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity |
OMIM:300928 |
Phenylketonuria |
|
Fair hair, Blue irides, Hyperactivity, Self-mutilation, Generalized hypopigmentation, Anxiety, At... |
OMIM:261600 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hirsutism, Hyperactivity, Small for gestational age |
ORPHA:85288 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Cognitive impairment, Hemolytic anemia, Microcytic anemia, Ane... |
ORPHA:846 |
Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal spermatogenesis |
ORPHA:90646 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... |
OMIM:203200 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... |
OMIM:400045 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal retinal morphology |
ORPHA:2786 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Juvenile Huntington Disease |
|
Ataxia, Progressive cerebellar ataxia, Hyperactivity, Chorea, Gait ataxia, Weight loss, Dystonia,... |
ORPHA:248111 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Chorea, Athetosis, Aggressive behavior, Dystonia |
ORPHA:382 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Decreased testicular size |
ORPHA:280679 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Ataxia, Generalized hirsutism, Reduced intraabdominal adipos... |
ORPHA:363400 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Alazami-Yuan Syndrome |
|
Hirsutism, Low anterior hairline, Thick eyebrow, Hyperactivity, Long eyelashes, Synophrys, Highly... |
OMIM:617126 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Premature graying of hair, Lymphopenia, Cognitive impairment, Hypopigm... |
ORPHA:100 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Exudative Vitreoretinopathy 1 |
|
Recurrent fractures, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachm... |
OMIM:133780 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure |
ORPHA:85450 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait ataxia, Aggressive beh... |
OMIM:609425 |
Gapo Syndrome |
|
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism |
ORPHA:2067 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Hypoplasia of the uterus, Impotence, Cryptorchidism, Hypoplasia of the o... |
ORPHA:432 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Abnormal macular morphology, Hy... |
ORPHA:897 |
Vogt-Koyanagi-Harada Disease |
|
Sparse scalp hair, Abnormal eyebrow morphology, Cognitive impairment, Poliosis, Retinal detachmen... |
ORPHA:3437 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:235200 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Azoospe... |
OMIM:308700 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia |
OMIM:612716 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Ataxia, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hai... |
OMIM:256710 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety, Highly arched eyebrow, Sparse eyebrow |
ORPHA:521258 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Irregular hyperpigmentation, Hypopigmentation of hair, Abnor... |
ORPHA:2885 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, Aggressive behavio... |
ORPHA:3077 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Primary amenorrhea, Female external genitalia in individual with 46,XY karyotype, T... |
ORPHA:99429 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age, Athetosis, Limb dystonia, Abnormality of the nail |
ORPHA:621 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Griscelli Syndrome Type 1 |
|
Ataxia, Retinopathy, Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair |
ORPHA:79476 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Increased adipo... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Increased adipo... |
ORPHA:71526 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Clitoral hypoplasia |
OMIM:614813 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Hyperactivity, Dysmetria |
OMIM:618090 |
Chediak-Higashi Syndrome |
|
Ataxia, Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigmentation of the skin, Abnormal d... |
OMIM:214500 |
Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Thick eyebrow, Sparse eyebrow, Anxiety, Highly arched eyebrow |
OMIM:300979 |
Abcd Syndrome |
|
Polycythemia, Large for gestational age, Albinism, White eyelashes, White eyebrow, Hypopigmentati... |
OMIM:600501 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Depigmented fundus, Optic ner... |
ORPHA:352731 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Optic nerve misrouting, Iris hypopigmentation, White e... |
ORPHA:79433 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia, Irritability |
ORPHA:848 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Ataxia, Hypopigmentation of hair, Progressive neurologic deterioration, Chorea... |
ORPHA:70472 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Memory impairment, Self-biting, Nail-biting, Hyperpigment... |
OMIM:619827 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Waardenburg Syndrome, Type 4A |
|
Ataxia, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premat... |
OMIM:277580 |
Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, Albinism, White eyelashes, White eyebrow, Synophry... |
OMIM:193510 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Mucopolysaccharidosis, Type Iiic |
|
Hirsutism, Hypertrichosis, Hyperactivity, Rod-cone dystrophy, Splenomegaly, Coarse hair, Motor de... |
OMIM:252930 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Gait ataxia, At... |
ORPHA:98818 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Abnormal leukocyte morphology, Ataxia, Failure to thrive, Anemia, Generalized ... |
ORPHA:3322 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Hypogonadism |
ORPHA:300298 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal number of dense granules |
OMIM:614072 |
Piebaldism |
|
Ataxia, Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys... |
ORPHA:2884 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Ambiguous genitalia, male, Male pseudo... |
ORPHA:90791 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Iris hy... |
ORPHA:79477 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... |
ORPHA:79434 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, White eyebrow, Vitiligo, White hair |
OMIM:227010 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Fair hair, Blue irides, Obesity, Red hair |
OMIM:614613 |
Bloom Syndrome |
|
Male infertility, Azoospermia, Oligospermia, Premature ovarian insufficiency |
ORPHA:125 |
Mucopolysaccharidosis, Type Iiib |
|
Hirsutism, Hyperactivity, Splenomegaly, Coarse hair, Progressive neurologic deterioration, Aggres... |
OMIM:252920 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Failure to thrive, Hirsutism, Ataxia, Hyperactivity, Anxiety, Synophrys, Aggressive behavior, Umb... |
OMIM:616977 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity |
ORPHA:177910 |
Cln5 Disease |
|
Ataxia, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Anxiety, Truncal atax... |
ORPHA:228360 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Primary amenorrh... |
ORPHA:91 |
Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Anxiety, Autoimmune thrombocytopenia, Attention deficit hyperactivity disorder, Ag... |
OMIM:301069 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Optic nerve hypoplasia, Elbow flexion contracture, Knee flexion... |
OMIM:618156 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Chorea, Gait ataxia, Aggressive behavior, Impaired pain sensation, Dystonia |
ORPHA:500180 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Ataxia, Hyperactivity, Hypopigmentation of the skin, Hypopigmentation of hair, Tr... |
ORPHA:98794 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia, HbH... |
ORPHA:98791 |
Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Hyperactivity, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Aplastic anemia... |
OMIM:617052 |
Chédiak-Higashi Syndrome |
|
Ataxia, Hemophagocytosis, Tremor, Increased proportion of CD25+ mast cells, Pancytopenia, Large c... |
ORPHA:167 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity |
OMIM:301013 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Frontal balding, Tremor, Attention defic... |
ORPHA:1942 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
2Q23.1 Microdeletion Syndrome |
|
Generalized hirsutism, Ataxia, Self-injurious behavior, Hyperactivity, Synophrys, Highly arched e... |
ORPHA:228402 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair, Weight loss |
ORPHA:2221 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Mucopolysaccharidosis, Type Iiia |
|
Hirsutism, Hyperactivity, Inguinal hernia, Splenomegaly, Coarse hair, Synophrys, Umbilical hernia |
OMIM:252900 |
Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Self-injurious behavior, Hyperactivity, Aggressive behavior, Obesity, Highly ... |
OMIM:600430 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal external genitalia, Micropenis, Abnormal ovarian morphology, Abnormality of male externa... |
ORPHA:95699 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Hyperactivity, Blue irides, Self-mutilation |
OMIM:615516 |
Carney Complex |
|
Sertoli cell neoplasm, Precocious puberty, Decreased fertility in males, Ovarian cyst, Leydig cel... |
ORPHA:1359 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Red hair |
OMIM:609734 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea,... |
ORPHA:79431 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Hyperactivity, Self-mutilation, Cachexia, Chorea, Athetosis, Dystonia |
ORPHA:52503 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Hyperactivity, Flexion contracture, Mental deterioration, Optic atrophy, Psychomotor dete... |
ORPHA:35069 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Blepharospasm, Hyperactivity, Retinal degeneration, Mental deterioration, Pigmentary reti... |
OMIM:234200 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Lymphopenia, Aggressive behavior, Synophrys, Irritability |
ORPHA:391307 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Hyperactivity, Retinal degeneration, Mental deterioration, Anxiety, Motor deterioration, ... |
ORPHA:168491 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Hyperactivity, Onycholysis, Irritability |
OMIM:275000 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dysmetria, Intention tremor, Mental deterioration, Dysdiadochokinesis, Chorea, Opt... |
OMIM:610217 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Angelman Syndrome Due To A Point Mutation |
|
Happy demeanor, Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmenta... |
ORPHA:411511 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Nail dysplasia, Pain insensitivity, Corneal scarring, Hyperactivity, Self-muti... |
OMIM:256800 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ataxia, Choroideremia, Ocular albinism, Inguinal hernia, Hypopigmentation of hair, Athetosis, Iri... |
ORPHA:2719 |
Renal Cysts And Diabetes Syndrome |
|
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Hyposp... |
OMIM:137920 |
Diphallia |
|
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Bifid penis, Ecto... |
ORPHA:227 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Hyperactivity, Congenital diaphragmatic hernia, Self-mutilation, Camptodactyly... |
ORPHA:412035 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Angelman Syndrome |
|
Happy demeanor, Ataxia, Fair hair, Self-injurious behavior, Hyperactivity, Hypopigmentation of th... |
ORPHA:72 |
Legius Syndrome |
|
Inguinal freckling, Hyperactivity, Cognitive impairment, Acute monocytic leukemia, Axillary freck... |
ORPHA:137605 |
Angelman Syndrome |
|
Fair hair, Blue irides, Hyperactivity, Hypopigmentation of the skin, Progressive gait ataxia, Lim... |
OMIM:105830 |
Coccidioidomycosis |
|
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia |
ORPHA:228123 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Hyperactivity, Progressive language deterioration, Self-mutilation, Mental deterioration,... |
ORPHA:163681 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Hyperactivity, Anxiety, Chorea, Attention deficit hyperactivity disorder |
OMIM:617600 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, Absent... |
OMIM:203100 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Inguinal hernia, Cachexia, Camptodactyly of finger, Abnormal hair pattern, Tremor,... |
ORPHA:85293 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Hyperactivity, Splenomeg... |
ORPHA:525731 |
Fanconi Anemia, Complementation Group A |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility |
OMIM:227650 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... |
ORPHA:999 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abn... |
ORPHA:760 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Tetrasomy 9P |
|
Infertility, Micropenis, Pachygyria, Oligospermia, Polymicrogyria, Lissencephaly, Cryptorchidism |
ORPHA:3310 |
Glass Syndrome |
|
Nail dysplasia, Happy demeanor, Hyperactivity, Sparse hair, Inguinal hernia, Camptodactyly, Aggre... |
OMIM:612313 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Splenomegaly |
OMIM:618541 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Inguinal hernia, Cognitive impairment, Fine hair, Anemia, White hair |
ORPHA:935 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Cognitive impairment, Somatic sensory dysfunction, Attention deficit hyperactivity... |
ORPHA:43 |
Acquired Methemoglobinemia |
|
Methemoglobinemia, Anxiety |
ORPHA:464453 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overweight, Hiatus hernia, Umbilical hernia |
OMIM:619769 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Hypohidrotic Ectodermal Dysplasia |
|
Failure to thrive, Irregular hyperpigmentation, Abnormal hair quantity, Cognitive impairment, Apl... |
ORPHA:238468 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... |
ORPHA:3440 |
Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Supernumerary nipple, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemo... |
OMIM:141750 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... |
ORPHA:79430 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, Hyperactivity, Aggressive behavior, Progressive language deterioration |
OMIM:610042 |
Syndromic Diarrhea |
|
Woolly hair, Lymphopenia, Brittle hair, Generalized hypopigmentation, Inguinal hernia, Splenomega... |
ORPHA:84064 |
Joubert Syndrome 1 |
|
Ataxia, Hyperactivity, Self-mutilation, Retinal dystrophy, Optic disc coloboma, Optic disc pallor... |
OMIM:213300 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Self-injurious behavior, Flexion contracture, Optic atrophy, Anemia |
ORPHA:847 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Low anterior hairline, Neutropenia, Small for gestational age,... |
ORPHA:124 |
Choreoacanthocytosis |
|
Laryngeal dystonia, Mental deterioration, Chorea, Limb dystonia, Emotional lability, Weight loss,... |
ORPHA:2388 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Neutrope... |
OMIM:260400 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Flexion contracture, Cognitive impairment, Hypopigmentation... |
ORPHA:398069 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair, Cho... |
ORPHA:398079 |
Brittle Cornea Syndrome |
|
Corneal scarring, Abnormality of hair pigmentation, Retinal detachment, Camptodactyly, Hernia |
ORPHA:90354 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta, Red hair |
OMIM:229200 |
Vici Syndrome |
|
Failure to thrive, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albin... |
OMIM:242840 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Prader-Willi Syndrome |
|
Abdominal obesity, Self-injurious behavior, Generalized hypopigmentation, Hypopigmentation of the... |
OMIM:176270 |
Carney Complex, Type 1 |
|
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair |
OMIM:160980 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... |
ORPHA:3214 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Corneal scarring, Pain insensitivity, Aplasia of the sweat glands, Hyperactivity, Trophic limb ch... |
ORPHA:642 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Sparse scalp hair, Failure to thrive, Hyperactivity, Sparse hair, Inguinal hernia, Loose anagen h... |
OMIM:607721 |
Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia |
ORPHA:99867 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98795 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Inguinal hernia, Macrocytic anemia, Attention def... |
OMIM:614294 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Ataxia, Splenomegaly, Hypopigmentation of hair, Arthrogryposis multi... |
ORPHA:163746 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Thick eyebrow, Hyperactivity, Emotional lability |
OMIM:620047 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Self-injurious behavior, Small for gestational age, Hypopigmentation of the sk... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Self-injurious behavior, Small for gestational age, Hypopigmentation of the sk... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Translocation |
|
Happy demeanor, Head-banging, Stellate iris, Hypopigmentation of the skin, Hypopigmentation of ha... |
ORPHA:177907 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Self-injurious behavior, Small for gestational age, Hypopigmentation of the sk... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Self-injurious behavior, Small for gestational age, Hypopigmentation of the sk... |
ORPHA:177901 |
Mucopolysaccharidosis Type 2 |
|
Abnormality of retinal pigmentation, Flexion contracture of digit, Hyperactivity, Inguinal hernia... |
ORPHA:580 |
Prader-Willi-Like Syndrome |
|
Failure to thrive, Self-injurious behavior, Small for gestational age, Hypopigmentation of the sk... |
ORPHA:398073 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Hyperactivity, Hand tremor, Small for gestational age |
ORPHA:424 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair, Att... |
ORPHA:739 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia |
OMIM:301040 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture, Abnormal dental enamel morphology |
ORPHA:96169 |
Menkes Disease |
|
Woolly hair, Sparse hair, Inguinal hernia, Chondrocalcinosis, Hypopigmentation of hair, Chorea, H... |
ORPHA:565 |
Degcags Syndrome |
|
Hypertrichosis, Hiatus hernia, Long eyelashes, Pancytopenia, Abnormal spleen morphology, Anemia, ... |
OMIM:619488 |
Familial Gestational Hyperthyroidism |
|
Weight loss, Hyperactivity, Hand tremor |
ORPHA:99819 |
Cystinosis, Nephropathic |
|
Male infertility, Male hypogonadism |
OMIM:219800 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Noonan Syndrome 1 |
|
Hypospadias, Cryptorchidism, Male infertility, Hypogonadism |
OMIM:163950 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Fair hair, Blue irides, Obesity, Red hair |
ORPHA:280651 |
Smith-Lemli-Opitz Syndrome |
|
Self-injurious behavior, Congenital diaphragmatic hernia, Hypopigmentation of hair, Optic atrophy... |
ORPHA:818 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Coarse hair, Dry hair, Widow's peak |
ORPHA:1974 |
Alström Syndrome |
|
Precocious puberty in females, Decreased fertility in males, Micropenis, Hypergonadotropic hypogo... |
ORPHA:64 |
Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Abnormality of skin pigmentation, Hypopigmented skin patches, Foot... |
ORPHA:220402 |