Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... |
ORPHA:529970 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
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 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
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 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 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
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 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 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
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 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 30 |
|
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... |
OMIM:618433 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
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 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
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 |
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 |
Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, 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 |
Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
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, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Delayed puberty, Testicular... |
ORPHA:52901 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia |
ORPHA:48 |
Band Heterotopia |
|
Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation, Hydrocephalus |
OMIM:600348 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia |
OMIM:615703 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... |
OMIM:616950 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... |
ORPHA:320391 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... |
OMIM:300200 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:615842 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Male infertility, Short sperm flagella |
OMIM:620197 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Functioning Gonadotropic Adenoma |
|
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... |
ORPHA:91348 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
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 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... |
OMIM:614837 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... |
ORPHA:8 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... |
OMIM:228300 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:301077 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus |
OMIM:602200 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:618736 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... |
OMIM:614897 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus, Male hypogonadism, Decreased serum... |
ORPHA:432 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum |
ORPHA:250972 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
Holoprosencephaly 5 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:609637 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
Polymicrogyria Due To Tubb2B Mutation |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
ORPHA:300573 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Hemochromatosis, Type 2A |
|
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism |
OMIM:602390 |
Ciliary Dyskinesia, Primary, 12 |
|
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... |
OMIM:612650 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligomenorrhea, Hyperpituitarism, Hypogonadism, Increased circulating prolactin concentration, Ne... |
ORPHA:91351 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Azoospermia, Low frustration tolerance, Male hypogonadism, Aggress... |
ORPHA:99329 |
Craniosynostosis 6 |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:616602 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms |
OMIM:614874 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... |
OMIM:308700 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation |
OMIM:607596 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Partial agenesis of the corpus callosu... |
ORPHA:79243 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... |
ORPHA:1916 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Lead Poisoning |
|
Abnormal sperm morphology, Delayed puberty, Decreased male libido, Decreased circulating osteocal... |
ORPHA:330015 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:610015 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... |
ORPHA:251510 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation |
ORPHA:284417 |
Congenital Hydrocephalus |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
ORPHA:2185 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:617751 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... |
ORPHA:786 |
Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:614219 |
49,Xyyyy Syndrome |
|
Decreased testicular size, External genital hypoplasia, Primary gonadal insufficiency, Abnormalit... |
ORPHA:99330 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dandy-Walker malformation, Dilated fourth ventricle, Lateral ventricle dilatation |
ORPHA:3078 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Lateral ventricle dilatation |
OMIM:618606 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
Cach Syndrome |
|
Lateral ventricle dilatation |
ORPHA:135 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Dandy-Walker malformation, Dilated... |
OMIM:613154 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia, Patent ductus arteriosus |
OMIM:618300 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Azoospermia, Gonadal tissue inappropriate for external genitalia o... |
ORPHA:261519 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:618291 |
Myotonic Dystrophy 2 |
|
Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus, Oligospermia,... |
OMIM:602668 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... |
OMIM:278850 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility, Absent inner and outer dynein arms |
OMIM:615444 |
46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... |
OMIM:400045 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... |
ORPHA:280679 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum |
OMIM:617296 |
Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... |
OMIM:308750 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619244 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... |
ORPHA:90791 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Glutaric Acidemia I |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
Slc35A2-Cdg |
|
Dandy-Walker malformation, Lateral ventricle dilatation |
ORPHA:356961 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation |
OMIM:618914 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Agenesis of corpus callosum, Lateral ventricle dilatation, Hydrocephalus |
OMIM:612863 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia |
ORPHA:85450 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation |
OMIM:619847 |
Gapo Syndrome |
|
Dysmenorrhea, Oligospermia, Amenorrhea, Hypogonadism |
ORPHA:2067 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:572798 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation |
ORPHA:565624 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Normal pressure hydrocephalus |
ORPHA:300570 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Lateral ventricle dilatation |
OMIM:611209 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Dysplastic corpus callosum |
ORPHA:544488 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Colpocephaly, Lateral ventricle dilatation, Ventriculomegaly, Dandy-Walker malformation, Dilated ... |
ORPHA:397715 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:300952 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum |
OMIM:619955 |
Distal Deletion 10Q |
|
Lateral ventricle dilatation |
ORPHA:96148 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation |
ORPHA:2148 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Cog5-Cdg |
|
Lateral ventricle dilatation |
ORPHA:263487 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation |
ORPHA:457279 |
Kohlschutter-Tonz Syndrome-Like |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619229 |
Noonan Syndrome 14 |
|
Lateral ventricle dilatation |
OMIM:619745 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation |
ORPHA:293725 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Apathy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism,... |
ORPHA:465508 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Primary amenorrhea, Fused l... |
ORPHA:95699 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation |
ORPHA:2822 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:464738 |
Bainbridge-Ropers Syndrome |
|
Lateral ventricle dilatation |
OMIM:615485 |
Aicardi-Goutieres Syndrome 9 |
|
Lateral ventricle dilatation |
OMIM:619487 |
Mosaic Trisomy 1 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
ORPHA:1692 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Clitoral hypoplasia, Oligospermia, Breast hypoplasia |
OMIM:614813 |
Weaver Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:277590 |
Carney Complex |
|
Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... |
ORPHA:1359 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... |
ORPHA:300298 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... |
ORPHA:1772 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus |
OMIM:619575 |
Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Crypto... |
ORPHA:361 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly |
OMIM:620156 |
Osteopetrosis, Autosomal Recessive 7 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:612301 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Dandy-Walker malformation,... |
OMIM:304050 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619479 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... |
OMIM:157640 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation |
OMIM:617557 |
Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation |
ORPHA:177907 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Hydrocephalus, Communicating hydrocephalus, Ventriculomegaly, Agenesis of corpus ca... |
OMIM:615219 |
Bloom Syndrome |
|
Premature ovarian insufficiency, Diabetes mellitus, Azoospermia, Male infertility, Oligospermia |
ORPHA:125 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism |
OMIM:222300 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Diabetes mellitus, Hypoplasia of the uterus, Epididymal cyst, Atretic vas ... |
OMIM:137920 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
Aarskog-Scott Syndrome |
|
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... |
OMIM:305400 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation |
OMIM:263520 |
Helsmoortel-Van Der Aa Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:615873 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:300868 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:619869 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation |
OMIM:618367 |
Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Testicular atrophy |
OMIM:300322 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the endocrine system, Abnormality of the male genitalia... |
ORPHA:228123 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Reduced sperm motility, Pancreatic cysts |
ORPHA:730 |
Tetrasomy 9P |
|
Inappropriate behavior, Polymicrogyria, Cryptorchidism, Micropenis, Infertility, Pachygyria, Abse... |
ORPHA:3310 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Colpocephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lateral ventricle dilatatio... |
OMIM:210710 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:609053 |
Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation |
OMIM:181270 |
Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618651 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Colpocephaly, Agenesis of corpus callosum, Partial agenesis of the corpus callosum |
OMIM:620113 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Progressive ventriculomegaly, Dysplastic corpus callosum, Lateral ventricle dilatation, Ventricul... |
ORPHA:500150 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Ventriculomegaly |
ORPHA:1855 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617260 |
Steinert Myotonic Dystrophy |
|
Emotional lability, Secondary hyperparathyroidism, Impairment in personality functioning, Testicu... |
ORPHA:273 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation |
OMIM:300896 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Agenesis of corpus callosum, Lateral ventricle dilatation, Hydrocephalus |
OMIM:607872 |
Kabuki Syndrome 1 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:147920 |
Choreoacanthocytosis |
|
Lateral ventricle dilatation |
ORPHA:2388 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus |
OMIM:619534 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614866 |
Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Ventriculomegaly |
OMIM:618460 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus |
OMIM:309801 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias |
ORPHA:3063 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
ORPHA:261537 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly |
OMIM:620083 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
ORPHA:261552 |
Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:301043 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum |
OMIM:618820 |
Alström Syndrome |
|
Decreased testicular size, Micropenis, Polycystic ovaries, Precocious puberty in females, Testicu... |
ORPHA:64 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly |
ORPHA:477993 |
Smith-Lemli-Opitz Syndrome |
|
Colpocephaly, Dandy-Walker malformation, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:270400 |
6Q Terminal Deletion Syndrome |
|
Colpocephaly |
ORPHA:75857 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology |
ORPHA:353277 |
Genitopatellar Syndrome |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |