Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
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 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
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 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
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 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
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 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 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 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 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 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 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
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 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
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, 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 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa |
OMIM:620103 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Non-ob... |
ORPHA:399805 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia |
OMIM:615703 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... |
ORPHA:320391 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Decreased female libido, Decreased testicular size, Oligomenorrhea, Azoosper... |
ORPHA:52901 |
Osteomesopyknosis |
|
Increased bone mineral density, Infertility |
OMIM:166450 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Late spermatogenesis maturation arrest |
OMIM:615842 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Infertility, Azoospermia, Primary amenorrhea |
OMIM:229070 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the... |
ORPHA:33445 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplasia of the ovary,... |
OMIM:612885 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Azoospermia, Oligospermia, Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:300200 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
47,Xyy Syndrome |
|
Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Male infertility, Varicocele, Cryptorchid... |
ORPHA:8 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Infertility, Osteopenia, Menorrhagia, Oligomenorrhea, Osteoporosis, Amenorrhea |
ORPHA:397685 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Macular hypoplasia, Hypopigmentation of hair, Hypopigmentation of the fundus, Blue irides |
OMIM:606574 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Frontal upsweep of hair, Ataxia, Tremor |
OMIM:300983 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Infertility, Hypogonadism |
OMIM:240950 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:614837 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus |
OMIM:606952 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... |
OMIM:613807 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Small nail, Optic atrophy, Elbow flexion contracture, Tremor |
OMIM:619470 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:126070 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Woolly Hair |
|
Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow, Brittle hair, Fine hair, W... |
ORPHA:170 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Silver-gray hair, Melan... |
OMIM:607624 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Azoospermia, Male hypo... |
OMIM:228300 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Impotence, Enlarged polycystic ovaries, Decreased female libido, In... |
ORPHA:91348 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Micropenis |
OMIM:614897 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Amenorrhea, Hypogonadism, Oligomenorrhea |
ORPHA:91351 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Sparse scalp hair, Self-injurious behavior, Long eyelashes, I... |
OMIM:618362 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... |
OMIM:619165 |
Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... |
ORPHA:261519 |
Lead Poisoning |
|
Decreased female libido, Infertility, Abnormality of the menstrual cycle, Reduced sperm motility,... |
ORPHA:330015 |
48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of the skin, Iris hypopigmentation, Happy demeanor, Ataxia, Hypop... |
ORPHA:411515 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Retinal atrophy, Retinal dystrophy, Truncal obesity |
ORPHA:75858 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia |
OMIM:234500 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Male infertility, Male pseudohermaphroditis... |
ORPHA:754 |
Classic Phenylketonuria |
|
Hypopigmentation of the skin, Self-injurious behavior, Motor deterioration, Hypopigmentation of h... |
ORPHA:79254 |
Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis, Optic atrop... |
OMIM:239100 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism |
OMIM:602668 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Ring Chromosome 21 Syndrome |
|
Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Mental deterioration, Dystonia |
OMIM:615924 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin, Athetosis |
OMIM:257800 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Athetosis, Dystonia |
ORPHA:382 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Generalized hypopigmentation, Fair hair, Attention deficit hy... |
OMIM:261600 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology |
ORPHA:2786 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Hyperactivity, Weight loss, Dementia, Ataxia, Progressive cerebellar ataxia,... |
ORPHA:248111 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito... |
OMIM:400045 |
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 |
|
Ambiguous genitalia, Precocious puberty, Infertility, Oligospermia, Female pseudohermaphroditism,... |
ORPHA:786 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... |
ORPHA:71526 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:280679 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperactivity, Cognitive impairment, Reduced intraabdominal adipose tissue, Reduced ... |
ORPHA:363400 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Cognitive impairment, Sparse scalp hair, Premature graying of hair, ... |
ORPHA:3437 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Small for gestational age, Failure to thrive, An... |
OMIM:609425 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hai... |
OMIM:256710 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Testicular atrophy, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:308700 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Abnormal macular morphology, Synophrys, W... |
ORPHA:897 |
Alazami-Yuan Syndrome |
|
Hyperactivity, Synophrys, Long eyelashes, Hirsutism, Thick eyebrow, Highly arched eyebrow, Low an... |
OMIM:617126 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism |
OMIM:300845 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Increased female... |
ORPHA:432 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Ataxia, Hypopigmented skin patches, Hyp... |
ORPHA:2885 |
Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Hypogonadotropic hypogonadism, Amenorrhea |
OMIM:235200 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ... |
ORPHA:251510 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Griscelli Syndrome Type 1 |
|
Retinopathy, Premature graying of hair, Iris hypopigmentation, Ataxia, White hair, Partial albinism |
ORPHA:79476 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, External genital hypoplasia, Decreased testicular size, Azoosperm... |
ORPHA:99330 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility |
ORPHA:85450 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Resting tremor, Abnor... |
ORPHA:3077 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Recurrent fractures, Posterior vitreous detachm... |
OMIM:133780 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... |
ORPHA:79435 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Ataxia, Failure to thrive, Hypopigmentation of hair, Progressive neurologic deterioration... |
ORPHA:70472 |
Gapo Syndrome |
|
Oligospermia, Dysmenorrhea, Amenorrhea, Hypogonadism |
ORPHA:2067 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Ataxia-Telangiectasia |
|
Cognitive impairment, Premature graying of hair, Ataxia, Failure to thrive, Hypopigmentation of h... |
ORPHA:100 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Polyphagia, Obesity |
ORPHA:177910 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... |
ORPHA:352731 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Male inferti... |
ORPHA:99429 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, Wh... |
OMIM:277580 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Chorea, Hyperactivity, Aggressive behavior, Impaired pain sensation, Impulsivity, Dy... |
ORPHA:500180 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Chromosome Xq25 Duplication Syndrome |
|
Sparse eyebrow, Hyperactivity, Anxiety, Thick eyebrow, Highly arched eyebrow |
OMIM:300979 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... |
OMIM:619827 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional... |
ORPHA:98818 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Clitoral hypoplasia |
OMIM:614813 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Hypogonadism |
ORPHA:300298 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, White ... |
ORPHA:2884 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased testicular size, Decreased fertility in males, Azoospermia... |
ORPHA:90791 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Rod-cone dystrophy, Hernia, Motor deterioration, Synophrys, Coarse hair, Hirsutism... |
OMIM:252930 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of the skin, Iris hypopigmentation, Happy demeanor, Ataxia, Hypop... |
ORPHA:98794 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Aggressive behavior, Synophrys, Ataxia, Failure to thrive, Impulsivity, Hirsutism,... |
OMIM:616977 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Happy demeanor, Ataxia, Hypopigmentation of ... |
ORPHA:411511 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased fertility, Irregular menstruation, Precocious puberty in females, Bifid scrotum, Bilate... |
ORPHA:90793 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Hyperactivity, Dysdiadochokinesis, Optic atrophy, Emotional lability, Impuls... |
OMIM:610217 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Self-injurious behavior, Synophrys, Ataxia, Polyphagia, Generalized hirsutism, Hig... |
ORPHA:228402 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Fair hair, Blue irides, Red hair, Obesity |
OMIM:614613 |
Cln5 Disease |
|
Hyperactivity, Aggressive behavior, Anxiety, Dysdiadochokinesis, Truncal ataxia, Ataxia, Dysmetri... |
ORPHA:228360 |
Bloom Syndrome |
|
Premature ovarian insufficiency, Oligospermia, Male infertility, Azoospermia |
ORPHA:125 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Abnormality of hair pigmentation, Elbow flexion contracture, Optic nerv... |
OMIM:618156 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Ovot... |
ORPHA:1772 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Flexion contracture, Optic atrophy, Choking episodes, Psychomotor deterioration, E... |
ORPHA:35069 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Obesity |
OMIM:301013 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Aggressive behavior, Hyperactivity, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Female in... |
ORPHA:91 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Onycholysis, Polyphagia, Irritability |
OMIM:275000 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Ataxia |
OMIM:172850 |
8P11.2 Deletion Syndrome |
|
Hypogonadism, Hypoplasia of penis, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism |
ORPHA:251066 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Generalized hirsutism |
ORPHA:2221 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Synophrys, Hirsutism, Progressive neurologic deterioration, C... |
OMIM:252920 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Testicular adrenal rest tumor, Azoospermia, Cryptorchi... |
ORPHA:361 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Contracture of the proximal interphalangeal joint of the 5th ... |
OMIM:620141 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
X-Linked Creatine Transporter Deficiency |
|
Chorea, Hyperactivity, Cachexia, Ataxia, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased fertility, Primary amenorrhea, Ambiguous genitalia, Abnormality of female external geni... |
ORPHA:95699 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Sparse scalp hair, Corneal scarring, Emotional lability, Nail dystrophy, Nail dysp... |
OMIM:256800 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Osteopenia |
OMIM:608747 |
Carney Complex |
|
Leydig cell neoplasia, Macroorchidism, Precocious puberty, Abnormal sperm motility, Testicular ad... |
ORPHA:1359 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Hypopigmentation of the skin, Self-injurious behavior, Anxiet... |
ORPHA:72 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Synophrys, Inguinal hernia, Hirsutism, Coarse hair, Umbilical hernia |
OMIM:252900 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, Hypoplasia of the fovea, White hair, Blue ir... |
OMIM:203100 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Hyperactivity, Aggressive behavior, Cognitive impairment, Dementia, ... |
ORPHA:43 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety, Slender build |
OMIM:617600 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Renal Cysts And Diabetes Syndrome |
|
Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididymal cyst, Hypospadias, Hy... |
OMIM:137920 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h... |
ORPHA:3322 |
Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Hyperactivity, Small nail, Hernia, Aplasia/Hypoplasia of the eyebrow, Abnormal... |
OMIM:617052 |
Diphallia |
|
Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal fistula, Ectopi... |
ORPHA:227 |
Chediak-Higashi Syndrome |
|
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Macular hypoplas... |
OMIM:214500 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia |
ORPHA:228123 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia, Attention deficit hyperactivity disorder, Progressive... |
OMIM:610042 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Flexion contracture, Cognitive impairment, Failure to thrive, Impul... |
ORPHA:398069 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Cognitive impairment, Trichorrhex... |
ORPHA:238468 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Blepharospasm, Optic atrophy, Retinal degeneration, Choreoathetosis, Dementia, Ata... |
OMIM:234200 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227650 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Obesity, Polyphagia |
OMIM:609734 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Failure to thrive, Hypopigmentation of hair, Polyphagia, Skin-picki... |
ORPHA:398079 |
Tetrasomy 9P |
|
Infertility, Lissencephaly, Oligospermia, Pachygyria, Cryptorchidism, Micropenis, Polymicrogyria |
ORPHA:3310 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Dysphagia |
ORPHA:98795 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Choroideremia, Iris hypopigmentation, Ataxia, Inguinal hernia, Hypopigmentation ... |
ORPHA:2719 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Self-injurious behavior, Small for gestational age, Bulimia, Iris h... |
ORPHA:98754 |
Brittle Cornea Syndrome |
|
Hernia, Abnormality of hair pigmentation, Corneal scarring, Camptodactyly, Retinal detachment |
ORPHA:90354 |
Brittle Cornea Syndrome 1 |
|
Red hair, Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Self-injurious behavior, Small for gestational age, Bulimia, Iris h... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Self-injurious behavior, Small for gestational age, Bulimia, Iris h... |
ORPHA:177904 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Self-injurious behavior, Small for gestational age, Bulimia, Iris h... |
ORPHA:177901 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair |
OMIM:160980 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Self-injurious behavior, Generalized hypopigmentation, Frontal upsw... |
OMIM:176270 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Self-injurious behavior, Small for gestational age, Bulimia, Iris h... |
ORPHA:398073 |
Chédiak-Higashi Syndrome |
|
Somatic sensory dysfunction, Hypopigmentation of the skin, Cognitive impairment, Iris hypopigment... |
ORPHA:167 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Weight loss, Small for gestational age, Hand tremor, Agitation |
ORPHA:424 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Weight loss, Ocular albinism, Iris hypopigmentat... |
ORPHA:79430 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Thick eyebrow, Emotional lability |
OMIM:620047 |
Familial Gestational Hyperthyroidism |
|
Weight loss, Hyperactivity, Hand tremor, Agitation |
ORPHA:99819 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Head-banging, Iris hypopigmentation, Happy demeanor, Hypopigmentati... |
ORPHA:177907 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Abnormality of hair texture, Overfriendliness, Abnormal dental enamel m... |
ORPHA:96169 |
Vici Syndrome |
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Hypopigmentation of the skin, Ocular albinism, Albinism, Macular hypoplasia, Macular atrophy, Fai... |
OMIM:242840 |
Choreoacanthocytosis |
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Blepharospasm, Hair-pulling, Limb dystonia, Self-mutilation of tongue and lips due to involuntary... |
ORPHA:2388 |
Legius Syndrome |
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Multiple lipomas, Hyperactivity, Cognitive impairment, Attention deficit hyperactivity disorder, ... |
ORPHA:137605 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Premature graying of hair, Ataxia, Hypopigmented skin patches, Hypop... |
ORPHA:163746 |
Prader-Willi Syndrome |
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Hypopigmentation of the skin, Failure to thrive, Hypopigmentation of hair, Attention deficit hype... |
ORPHA:739 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Somatic sensory dysfunction, Hyperactivity, Abnormal emotion/affect behavior, Corneal scarring, F... |
ORPHA:642 |
Syndromic Diarrhea |
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Cafe-au-lait spot, Trichorrhexis nodosa, Generalized hypopigmentation, Brittle hair, Small for ge... |
ORPHA:84064 |
Menkes Disease |
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Chorea, Hernia, Woolly hair, Inguinal hernia, Hypopigmentation of hair, Atypical scarring of skin... |
ORPHA:565 |
Cystinosis, Nephropathic |
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Hypopigmentation of the skin, Retinopathy, Weight loss, Retinal pigment epithelial mottling, Hypo... |
OMIM:219800 |
Cystic Fibrosis |
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Male infertility |
OMIM:219700 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Degcags Syndrome |
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Hypopigmentation of the skin, Abnormal eyebrow morphology, Abnormality of skin pigmentation, Prem... |
OMIM:619488 |
Smith-Lemli-Opitz Syndrome |
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Self-injurious behavior, Optic atrophy, Congenital diaphragmatic hernia, Hypopigmentation of hair... |
ORPHA:818 |
Noonan Syndrome 1 |
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Hypospadias, Male infertility, Hypogonadism, Cryptorchidism |
OMIM:163950 |
Acrodysostosis With Multiple Hormone Resistance |
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Hyperactivity, Fair hair, Blue irides, Red hair, Obesity |
ORPHA:280651 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair |
ORPHA:1974 |
Alström Syndrome |
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Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Hyoplasia of the Leyd... |
ORPHA:64 |
Limited Cutaneous Systemic Sclerosis |
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Foot joint contracture, Abnormality of skin pigmentation, Joint contracture of the hand, Hypopigm... |
ORPHA:220402 |