Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
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 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... |
OMIM:618433 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility |
ORPHA:98797 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility |
OMIM:620103 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... |
OMIM:620315 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619949 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Oligozoospermia |
OMIM:615703 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib... |
ORPHA:52901 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology |
OMIM:215520 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:600348 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Micropenis, Lateral ventricle dilatation, Bilateral cryptorchidism |
OMIM:300982 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility |
OMIM:618086 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Ciliary Dyskinesia, Primary, 6 |
|
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology |
OMIM:610852 |
Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... |
ORPHA:320391 |
Spermatogenic Failure 14 |
|
Azoospermia, Male infertility, Round spermatid arrest |
OMIM:615842 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... |
OMIM:617091 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility |
OMIM:229070 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia |
OMIM:620032 |
Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
Spermatogenic Failure 13 |
|
Azoospermia, Male infertility |
OMIM:615841 |
Ciliary Dyskinesia, Primary, 10 |
|
Abnormal respiratory motile cilium morphology |
OMIM:612518 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent outer dynein arms, Absent inner dynein arms, Infertility |
OMIM:613193 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Cryptorchidism |
OMIM:616816 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology |
OMIM:225050 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Lateral ventricle dilatation |
OMIM:619420 |
Premature Ovarian Failure 10 |
|
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... |
OMIM:612885 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Premature ovarian insufficiency, Lateral ventricle dilatation |
OMIM:615889 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... |
ORPHA:8 |
Mayer-Rokitansky-KĂĽster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
Ciliary Dyskinesia, Primary, 32 |
|
Infertility, Absent respiratory ciliary axoneme radial spokes |
OMIM:616481 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia |
OMIM:300200 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Immotile sperm, Infe... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility |
OMIM:614874 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum |
OMIM:619244 |
Ciliary Dyskinesia, Primary, 17 |
|
Dynein arm defect of respiratory motile cilia |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 7 |
|
Abnormal axonemal organization of respiratory motile cilia |
OMIM:611884 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... |
OMIM:614837 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Ciliary Dyskinesia, Primary, 28 |
|
Dynein arm defect of respiratory motile cilia |
OMIM:615505 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea |
OMIM:602390 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Lateral ventricle dilatation |
OMIM:618330 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:613443 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia, Absent outer dynein arms |
OMIM:618300 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus, Hydrocephalus |
OMIM:258320 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:614897 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Ventriculomegaly, Dilated third ventricle, Hypogonadism, Cryptorchidism, Hydrocephalus, Micropenis |
ORPHA:500055 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... |
OMIM:618736 |
Functioning Gonadotropic Adenoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov... |
ORPHA:91348 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms |
OMIM:614017 |
Masa Syndrome |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:303350 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... |
ORPHA:90797 |
Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Neonatal... |
OMIM:610015 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Male infertility |
OMIM:244400 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus |
ORPHA:141333 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Abnormal CSF pyruvate fami... |
ORPHA:79243 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryp... |
ORPHA:544488 |
Cach Syndrome |
|
Lateral ventricle dilatation, Gonadal dysgenesis, T2 hypointense thalamus, Primary amenorrhea, Pr... |
ORPHA:135 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,... |
ORPHA:397715 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Neonatal death |
OMIM:614870 |
Craniosynostosis 6 |
|
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... |
OMIM:616602 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hydrocephalus, Cryptorchidism |
ORPHA:250994 |
Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... |
ORPHA:261519 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation |
ORPHA:85290 |
Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation |
OMIM:607596 |
Pituitary Dermoid And Epidermoid Cysts |
|
Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia |
ORPHA:91351 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata... |
OMIM:600721 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... |
OMIM:278850 |
Lead Poisoning |
|
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... |
ORPHA:330015 |
48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Congenital Hydrocephalus |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Male urethral meatus stenosis, Agenesis of... |
ORPHA:464738 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... |
OMIM:400045 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hypospadias, Lateral ventricle dilatation |
OMIM:617751 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Absent outer dynein arms |
OMIM:616037 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation |
ORPHA:284417 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ven... |
OMIM:618291 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... |
ORPHA:251510 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619302 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Infertility |
ORPHA:1445 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
Myotonic Dystrophy 2 |
|
Hypogonadism, Oligozoospermia |
OMIM:602668 |
Asparagine Synthetase Deficiency |
|
Ventriculomegaly, Dilated fourth ventricle, Dilated third ventricle |
OMIM:615574 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Ciliary Dyskinesia, Primary, 38 |
|
Infertility, Absent inner and outer dynein arms |
OMIM:618063 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia, Oligomenorrhea, Oligozoosp... |
ORPHA:786 |
Diencephalic Syndrome |
|
Long penis, Hydrocephalus |
ORPHA:1672 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus |
OMIM:304100 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Dandy-Walker malformation |
OMIM:618606 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619301 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad... |
OMIM:308700 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility, Absent inner and outer dynein arms |
OMIM:615444 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Colpoceph... |
OMIM:620371 |
Malan Overgrowth Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:420179 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:3078 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:280679 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... |
ORPHA:432 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Aicardi Syndrome |
|
Precocious puberty, Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, S... |
OMIM:304050 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Radial Aplasia, X-Linked |
|
Penile hypospadias, Hydrocephalus |
OMIM:312190 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
Ciliary Dyskinesia, Primary, 2 |
|
Infertility, Nasal polyposis, Absent inner and outer dynein arms |
OMIM:606763 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism, Agenesis of corpus callo... |
OMIM:618577 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Abnormal cerebrospinal fluid morphology |
ORPHA:314404 |
Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... |
ORPHA:85450 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Hydrocephalus, Cryptorchidism |
OMIM:601794 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:617397 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2182 |
Hemochromatosis, Type 1 |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence |
OMIM:235200 |
Slc35A2-Cdg |
|
Precocious puberty, Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:356961 |
Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Micropenis, Lateral ventricle dilatation, Cryptorchidism |
OMIM:619847 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus |
OMIM:610333 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased CSF lactate, Lateral ventricle dilatation, Cryptorchidism |
ORPHA:565624 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation |
OMIM:618914 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:488627 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:612863 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... |
OMIM:616034 |
Gapo Syndrome |
|
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea |
ORPHA:2067 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Clitoral hypertrophy, Abnormal labia majora morphology, Decreased testicular size, Ambiguous geni... |
ORPHA:90791 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Glandular hypospadias, Abnormal preputium morphology, Choroid plexus cyst, Lateral ventricle dila... |
ORPHA:293725 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Abnormal thalamus morphol... |
ORPHA:300570 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypospadias |
OMIM:218350 |
Classic Galactosemia |
|
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... |
ORPHA:79239 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
Congenital Toxoplasmosis |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:858 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Lateral ventricle dilatation, Cryptorchidism |
OMIM:611209 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Alexander Disease Type I |
|
Hydrocephalus, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Cog5-Cdg |
|
Micropenis, Lateral ventricle dilatation, Cryptorchidism |
ORPHA:263487 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:602501 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Hydrocephalus, Cryptor... |
ORPHA:254516 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Hydrocephalus |
OMIM:248000 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation |
ORPHA:572798 |
Orofaciodigital Syndrome Type 14 |
|
Dilated third ventricle, Bilateral cryptorchidism, Dilated fourth ventricle, Epispadias, Partial ... |
ORPHA:434179 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:613153 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Oligozoospermia |
OMIM:614813 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hypothalamic hamartoma, Hydrocephalus, Micropenis, Anterior hypopituitarism |
OMIM:241800 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:272 |
Noonan Syndrome 14 |
|
Lateral ventricle dilatation, Cryptorchidism |
OMIM:619745 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
Nasu-Hakola Disease |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2770 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... |
ORPHA:90793 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
Distal Deletion 10Q |
|
Spina bifida occulta, Lateral ventricle dilatation |
ORPHA:96148 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation, Micropenis, Hypospadias |
OMIM:619479 |
Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus |
ORPHA:2086 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Hypogonadism, Azoospermia |
ORPHA:300298 |
Weaver Syndrome |
|
Ventriculomegaly, Hydrocele testis, Lateral ventricle dilatation, Cryptorchidism |
OMIM:277590 |
Mosaic Trisomy 1 |
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Micropenis, Penile hypospadias, Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:1692 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Male infertility |
ORPHA:244 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Bainbridge-Ropers Syndrome |
|
Precocious puberty, Lateral ventricle dilatation, Cryptorchidism |
OMIM:615485 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation |
ORPHA:457279 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:619229 |
Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Ventriculomegaly, Hydrocephalus, Cryptorch... |
OMIM:609757 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:163961 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
Aicardi-Goutieres Syndrome 9 |
|
Micropenis, Lateral ventricle dilatation |
OMIM:619487 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malfo... |
OMIM:225790 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, En... |
ORPHA:91 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Greig Cephalopolysyndactyly Syndrome |
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Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypospadias |
OMIM:175700 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida |
OMIM:207950 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Ventriculomegaly, Holoprosencephaly, Hydrocephalus |
ORPHA:93274 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Small pituitary gland, Hydrocephalus |
OMIM:614195 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Micropenis, Hypospadias, Hydrocephalus, Cryptorchidism |
ORPHA:171839 |
Bresek Syndrome |
|
Decreased testicular size, Hydrocephalus, Cryptorchidism, Neonatal death |
ORPHA:85284 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:109120 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:620156 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Cryptorchidism |
ORPHA:2701 |
Bloom Syndrome |
|
Premature ovarian insufficiency, Azoospermia, Oligozoospermia, Male infertility |
ORPHA:125 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Houge-Janssens Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:616362 |
Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, External gen... |
ORPHA:177907 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation |
ORPHA:2822 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... |
OMIM:615219 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Dilated fourth ventricle, A... |
ORPHA:370959 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis, Holoprosencephal... |
ORPHA:77298 |
Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation, Cryptorchidism |
OMIM:617557 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Temple Syndrome |
|
Precocious puberty, Decreased testicular size, Hydrocephalus, Cryptorchidism |
OMIM:616222 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari... |
ORPHA:91350 |
Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:245200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616355 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism |
ORPHA:1237 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c... |
ORPHA:95699 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Triploidy |
|
Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Holoprosencephaly, Hypospadias, ... |
ORPHA:3376 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Thanatophoric Dysplasia |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2655 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Dandy-Walker m... |
OMIM:220210 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615630 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Hydrolethalus |
|
Cryptorchidism, Agenesis of corpus callosum, Abnormal fallopian tube morphology, Hydrocephalus, A... |
ORPHA:2189 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly |
ORPHA:1908 |
Diabetic Embryopathy |
|
Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Hydrocephalu... |
ORPHA:1926 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Ventriculomegaly, Hydrocephalus, Abnormality of the uterus |
ORPHA:59315 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Ambiguous genitalia, Lateral ventricle dilatation |
OMIM:263520 |
Carney Complex |
|
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... |
ORPHA:1359 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
OMIM:619833 |
Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:618619 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:217090 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Trisomy 1Q |
|
Small scrotum, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Ambiguous genitalia... |
ORPHA:261344 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectovaginal fistula, Hydrocephalus, Perineal fistula |
ORPHA:3016 |
Helsmoortel-Van Der Aa Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Decreased response to growth hormone stimulation ... |
OMIM:615873 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:603387 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Hydrocephalus |
OMIM:219730 |
Renal Cysts And Diabetes Syndrome |
|
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... |
OMIM:137920 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1647 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Hypogonadism, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism |
OMIM:300514 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, male, Hydrocephalus, Hypospadias |
ORPHA:2075 |
1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:238769 |
Emanuel Syndrome |
|
Ventriculomegaly, Hypogonadism, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Micro... |
ORPHA:96170 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:60040 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus, Hydrocephalus |
ORPHA:2736 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:619869 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis |
OMIM:614969 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:304340 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum, Colpocephaly, Hydrocep... |
OMIM:210710 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Ventriculomegaly, Hydrocephalus, Micropenis, Dandy-Walker malformation |
OMIM:617822 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis... |
ORPHA:899 |
Developmental And Epileptic Encephalopathy 31B |
|
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:620352 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Partial agenesis ... |
OMIM:619895 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Micropenis, Lateral ventricle dilatation |
OMIM:300868 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation |
OMIM:609029 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus |
OMIM:272200 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis |
ORPHA:1812 |
Coccidioidomycosis |
|
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia |
ORPHA:228123 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2169 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
Ciliary Dyskinesia, Primary, 20 |
|
Decreased fertility, Absent outer dynein arms |
OMIM:615067 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Hydrocephalus, Cryptorchidism |
OMIM:601499 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
3C Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hypoplasia of penis, Hypospadias, Dandy-Walker malformation |
ORPHA:7 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Abnormal hypothalam... |
ORPHA:54595 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Increased CSF lactate, Hypopituitarism, Hydrocephalus, Hyperglycorrhachia |
ORPHA:90065 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation |
OMIM:618367 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614576 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus |
OMIM:617866 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Ventriculomegaly, Microphallus, Cryptorchidism, Agenesis of corpus callosum, Ambig... |
OMIM:612651 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of corpus callosum |
OMIM:609053 |
Halperin-Birk Syndrome |
|
Ventriculomegaly, Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum |
OMIM:618651 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:618476 |
Thanatophoric Dysplasia, Type I |
|