Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
Spermatogenic Failure 50 |
|
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
Spermatogenic Failure 30 |
|
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
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 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... |
ORPHA:399805 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... |
ORPHA:529970 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Impaired proprioception, Ataxia |
OMIM:176250 |
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 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... |
OMIM:616950 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... |
OMIM:618433 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Delayed puberty, Testicular... |
ORPHA:52901 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia |
OMIM:615703 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:615842 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... |
OMIM:614837 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... |
OMIM:228300 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia |
ORPHA:48 |
Hemochromatosis, Type 2A |
|
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism |
OMIM:602390 |
Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... |
OMIM:614897 |
Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:301077 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... |
OMIM:300200 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Male hypogonadism, Azoospermia |
ORPHA:99329 |
Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Azoospermia, Gonadal tissue inappropriate for external genitalia o... |
ORPHA:261519 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... |
OMIM:308700 |
Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... |
ORPHA:280679 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... |
ORPHA:320391 |
49,Xyyyy Syndrome |
|
Decreased testicular size, External genital hypoplasia, Primary gonadal insufficiency, Abnormalit... |
ORPHA:99330 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... |
ORPHA:8 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia, Patent ductus arteriosus |
OMIM:618300 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
ORPHA:432 |
Ring Chromosome 21 Syndrome |
|
Infertility, Azoospermia, Diabetes insipidus, Amenorrhea |
ORPHA:1445 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... |
ORPHA:251510 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Male infertility, Short sperm flagella |
OMIM:620197 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... |
ORPHA:90791 |
Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
48,Xxyy Syndrome |
|
Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Infertility, Hypoplasi... |
ORPHA:10 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... |
OMIM:400045 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Reduced circulating growth hormone concentration, Decreased testicular size, Decreased cirrculati... |
OMIM:300845 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... |
OMIM:278850 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:1538 |
Asherman Syndrome |
|
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... |
ORPHA:137686 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... |
ORPHA:300298 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Cryptorchidism, Abnormal morphology of... |
ORPHA:754 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada... |
ORPHA:2232 |
Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Crypto... |
ORPHA:361 |
Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617967 |
Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... |
ORPHA:983 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:607091 |
8P11.2 Deletion Syndrome |
|
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Azoospermia, Patent ductus arteriosus, Abnorma... |
ORPHA:251066 |
Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
48,Xxxy Syndrome |
|
Decreased testicular size, Cryptorchidism, Hypogonadism, Hypoplasia of penis, Infertility, Azoosp... |
ORPHA:96263 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
49,Xxxxy Syndrome |
|
Decreased testicular size, Cryptorchidism, Hypogonadism, Hypoplasia of penis, Infertility, Azoosp... |
ORPHA:96264 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Functioning Gonadotropic Adenoma |
|
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... |
ORPHA:91348 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... |
ORPHA:1772 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
N Syndrome |
|
Abnormality of chromosome stability, Cryptorchidism, Hypospadias |
OMIM:310465 |
Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... |
OMIM:308750 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
Bloom Syndrome |
|
Decreased fertility in females, Cryptorchidism, Azoospermia, Chromosome breakage, Type II diabete... |
OMIM:210900 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab... |
ORPHA:99429 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... |
ORPHA:90793 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Fanconi Anemia, Complementation Group A |
|
Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Hypergonadotropic hypogonadi... |
OMIM:227650 |
Holoprosencephaly 5 |
|
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, La... |
OMIM:609637 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligomenorrhea, Hyperpituitarism, Hypogonadism, Increased circulating prolactin concentration, Ne... |
ORPHA:91351 |
H Syndrome |
|
Delayed puberty, Decreased testicular size, Micropenis, Hypogonadism, Diabetes mellitus, Azoosper... |
ORPHA:168569 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms |
OMIM:614874 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Lead Poisoning |
|
Abnormal sperm morphology, Delayed puberty, Decreased male libido, Decreased circulating osteocal... |
ORPHA:330015 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus |
OMIM:182940 |
Familial Hyperprolactinemia |
|
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea |
ORPHA:397685 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
Band Heterotopia |
|
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus |
OMIM:600348 |
Classic Galactosemia |
|
Oligomenorrhea, Delayed puberty, Premature ovarian insufficiency, Decreased fertility in females,... |
ORPHA:79239 |
Fanconi Anemia, Complementation Group E |
|
Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Deficient excision of UV-ind... |
OMIM:600901 |
Masa Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:303350 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus |
OMIM:614120 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Micropenis, Decreased response to growth hormone stimulation test, Hypergo... |
OMIM:602782 |
Myotonic Dystrophy 2 |
|
Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus, Oligospermia,... |
OMIM:602668 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... |
ORPHA:786 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism, Amenorr... |
ORPHA:465508 |
Aromatase Deficiency |
|
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Type II d... |
ORPHA:91 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Fanconi Anemia, Complementation Group C |
|
Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Deficient excision of UV-ind... |
OMIM:227645 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
Autosomal Dominant Cerebellar Ataxia |
|
Azoospermia |
ORPHA:99 |
Congenital Hydrocephalus |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:2185 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Melanosis, Neurocutaneous |
|
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus |
OMIM:249400 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... |
ORPHA:3464 |
Distal 7Q11.23 Microduplication Syndrome |
|
Frontal encephalocele, Hydrocephalus |
ORPHA:261102 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia |
ORPHA:85450 |
De Sanctis-Cacchione Syndrome |
|
Gonadal hypoplasia, Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation da... |
OMIM:278800 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
Bloom Syndrome |
|
Premature ovarian insufficiency, Diabetes mellitus, Azoospermia, Male infertility, Oligospermia |
ORPHA:125 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism |
OMIM:222300 |
Fanconi Anemia, Complementation Group D2 |
|
Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Micropenis, Hypergonadotropi... |
OMIM:227646 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus |
ORPHA:2182 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Aarskog-Scott Syndrome |
|
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... |
OMIM:305400 |
Fanconi Anemia |
|
Cryptorchidism, Absent testis, Abnormal preputium morphology, Hypogonadism, Abnormality of the ut... |
ORPHA:84 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Hydrocephalus |
OMIM:304100 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly |
OMIM:610333 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... |
OMIM:157640 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Diphallia |
|
Rectoperineal fistula, Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Bifid ... |
ORPHA:227 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Non Rare In Europe: Central Precocious Puberty |
|
Hydrocephalus |
ORPHA:759 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus |
OMIM:602200 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Trichothiodystrophy |
|
Gonadal dysgenesis, Cryptorchidism, Defective DNA repair after ultraviolet radiation damage |
ORPHA:33364 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus |
OMIM:220220 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:163961 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Delayed puberty, Azoospermia, Cholelithiasis |
ORPHA:2072 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:613153 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Holoprosencephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:93274 |
Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:245200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, Delayed puberty, Diabetes mellitus, Female hypogonadism, Abnormal sperm... |
OMIM:208900 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Dandy-Walker malformation, Hydrocephalus |
OMIM:607361 |
Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus |
OMIM:207950 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
Carney Complex |
|
Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... |
ORPHA:1359 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Oculocerebrorenal Syndrome Of Lowe |
|
Delayed puberty, Hyperaldosteronism, Cryptorchidism, Hyperparathyroidism, Diabetes insipidus, Abn... |
ORPHA:534 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the endocrine system, Abnormality of the male genitalia... |
ORPHA:228123 |
Aase-Smith Syndrome I |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:147800 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly |
ORPHA:1908 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:225790 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ventriculomegaly, Nasofrontal encephalocele, Hydrocephalus |
OMIM:614195 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:614219 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Dilated fourth ventricle, Hydrocephalus, Ventriculomegaly |
ORPHA:370959 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
B4Galt1-Cdg |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:79332 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Dandy-Walker malformation, Dilated... |
OMIM:613154 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias |
ORPHA:3063 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... |
ORPHA:273 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:620156 |
Plasminogen Deficiency, Type I |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:217090 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:220210 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Triploidy |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:3376 |
Hydrolethalus |
|
Arrhinencephaly, Anencephaly, Hydrocephalus |
ORPHA:2189 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Hydrocephalus |
OMIM:219730 |
Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
Myopathy, Centronuclear, X-Linked |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:310400 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Obsolete: Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Meningocele, Hydrocephalus, Aqueductal stenosis, Ventriculomegaly |
ORPHA:1136 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Holoprosencephaly 14 |
|
Hydrocephalus, Aqueductal stenosis, Alobar holoprosencephaly, Holoprosencephaly, Ventriculomegaly... |
OMIM:619895 |
Pettigrew Syndrome |
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Aqueductal stenosis, Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:304340 |
Oculocerebrocutaneous Syndrome |
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Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:1647 |
Congenital Disorder Of Glycosylation, Type Iil |
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Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
Ciliary Dyskinesia, Primary, 43 |
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Noncommunicating hydrocephalus |
OMIM:618699 |
Griscelli Syndrome |
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Encephalocele, Hydrocephalus |
ORPHA:381 |
Joubert Syndrome 14 |
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Encephalocele, Meningocele, Dandy-Walker malformation, Hydrocephalus |
OMIM:614424 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hyperglycorrhachia, Increased CSF lactate, Hydrocephalus |
ORPHA:90065 |
Diabetic Embryopathy |
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Spinal dysraphism, Hydrocephalus |
ORPHA:1926 |
Methylcobalamin Deficiency Type Cble |
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Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Multiple Sulfatase Deficiency |
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Increased CSF protein concentration, Hydrocephalus, Ventriculomegaly |
OMIM:272200 |
Emanuel Syndrome |
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Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:609029 |
Czeizel-Losonci Syndrome |
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Spina bifida, Myelomeningocele, Spina bifida occulta, Hydrocephalus |
ORPHA:2437 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Holoprosencephaly, Hydrocephalus |
ORPHA:77298 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Autosomal Dominant Spastic Paraplegia Type 4 |
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Impaired vibration sensation at ankles, Ataxia |
ORPHA:100985 |
1Q44 Microdeletion Syndrome |
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Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
3C Syndrome |
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Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:7 |
Glutaric Acidemia I |
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Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Dandy-Walker malformation, Hydrocephalus |
OMIM:612582 |
Alkuraya-Kucinskas Syndrome |
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Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:617822 |
Emanuel Syndrome |
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Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:96170 |
Beemer-Ertbruggen Syndrome |
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Communicating hydrocephalus |
ORPHA:1237 |
Thanatophoric Dysplasia Type 1 |
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Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Large Congenital Melanocytic Nevus |
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Hydrocephalus |
ORPHA:626 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Dandy-Walker malformation, Hydrocephalus |
OMIM:612938 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Hydrocephalus |
ORPHA:163966 |
Hec Syndrome |
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Communicating hydrocephalus |
ORPHA:2119 |
Trisomy 1Q |
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Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus |
ORPHA:2736 |
Rhombencephalosynapsis |
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Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Hydrocephalus |
OMIM:615249 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
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Noncommunicating hydrocephalus |
OMIM:619320 |
Isolated Posterior Meningocele |
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Hydrocephalus, Meningocele, Lipomyelomeningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:618476 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus |
ORPHA:3016 |
Fanconi Anemia, Complementation Group R |
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Hydrocephalus |
OMIM:617244 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Dandy-Walker malformation, Hydrocephalus |
ORPHA:459061 |
Noonan Syndrome 1 |
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Cryptorchidism, Hypogonadism, Male infertility, Patent ductus arteriosus, Hypospadias |
OMIM:163950 |
Walker-Warburg Syndrome |
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Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:899 |
Pontocerebellar Hypoplasia, Type 7 |
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Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Hydrocephalus, Ventriculomegaly |
OMIM:616538 |