| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
| Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
| Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
| Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
| Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
| Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
| Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
| Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
| Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
| Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia |
ORPHA:98797 |
| Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... |
ORPHA:399808 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
| Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
| Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
| Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
| Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
| Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
| Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
| Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
| Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
| Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
| Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... |
ORPHA:320391 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
| Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... |
OMIM:228300 |
| Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia |
OMIM:615703 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Male hypogona... |
OMIM:240950 |
| Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
| Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| 47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... |
ORPHA:8 |
| Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Male sexual dysfunction, Bifid scrotum, Fused labia majora, A... |
ORPHA:90797 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... |
OMIM:613807 |
| Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Urogenital sinus anomaly, M... |
ORPHA:251510 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
| Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:614935 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
| Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia |
OMIM:616950 |
| Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormality of the ... |
ORPHA:330015 |
| Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
| Classic Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... |
ORPHA:79239 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... |
ORPHA:90793 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
| 46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
| 46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
| Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
| Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Ambiguous genitalia, female, Female infertility, Male infertility, ... |
ORPHA:91 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility |
ORPHA:85450 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia |
OMIM:300983 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
| Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait |
OMIM:619470 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
| Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia |
OMIM:609425 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity |
OMIM:618362 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
| Diphallia |
|
Hypospadias, Bifid scrotum, Ectopic scrotum, Rectoperineal fistula, Bifid penis, Abnormal spermat... |
ORPHA:227 |
| Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
| Carney Complex |
|
Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Euthyroi... |
ORPHA:1359 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility |
ORPHA:730 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the female genitalia, Abnormality of the male genitalia |
ORPHA:228123 |
| Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
| Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... |
ORPHA:3464 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Bicornuate uter... |
OMIM:137920 |
| Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
| Cln5 Disease |
|
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... |
ORPHA:228360 |
| Clark-Baraitser Syndrome |
|
Hyperactivity |
OMIM:617752 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait |
ORPHA:457260 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk |
OMIM:618718 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity |
OMIM:615516 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Broad-based gait |
ORPHA:3077 |
| Bloom Syndrome |
|
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia |
ORPHA:125 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia |
OMIM:271980 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia |
ORPHA:363400 |
| Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk |
ORPHA:1929 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity |
ORPHA:397973 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity |
OMIM:615824 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder, Impotence |
ORPHA:43 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait |
OMIM:300958 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity |
OMIM:275000 |
| Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
| Myoclonic-Astatic Epilepsy |
|
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
ORPHA:1942 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:52503 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity |
ORPHA:101039 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:73272 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait |
ORPHA:35069 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity |
OMIM:618314 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency |
ORPHA:391307 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Male hypogonadism, Difficu... |
ORPHA:139396 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia |
OMIM:610042 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Male infertility |
OMIM:219800 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Ataxia, Hyperactivity, Gait imbalance, Broad-based gait |
ORPHA:98794 |
| Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity |
OMIM:252900 |
| Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
| Noonan Syndrome 1 |
|
Hypospadias, Cryptorchidism, Male infertility, Hypogonadism |
OMIM:163950 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia |
ORPHA:760 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm |
OMIM:234200 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity |
ORPHA:99819 |
| Legius Syndrome |
|
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder |
ORPHA:137605 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity |
ORPHA:424 |
| Argininemia |
|
Hyperactivity, Spastic gait |
OMIM:207800 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |
