Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
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Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Cephalin Lipidosis |
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Abnormality of the spleen |
OMIM:212800 |
Gilles De La Tourette Syndrome |
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Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Testes, Rudimentary |
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Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Partial Chromosome Y Deletion |
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Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Spermatogenic Failure 63 |
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Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Hypogonadism, Male |
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Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spinocerebellar Ataxia 32 |
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Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Testicular Regression Syndrome |
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Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
46,Xx Testicular Difference Of Sex Development |
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Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Isolated Follicle Stimulating Hormone Deficiency |
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Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Kennedy Disease |
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Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Developmental And Epileptic Encephalopathy 104 |
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Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Hyperlysinemia, Type I |
|
Hyperactivity, Anemia |
OMIM:238700 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Optic atrophy, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Aggressive behavior |
ORPHA:75858 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... |
OMIM:120200 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Atelis Syndrome 2 |
|
Anemia, Thrombocytopenia, Remnants of the hyaloid vascular system, Attention deficit hyperactivit... |
OMIM:620185 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Pierson Syndrome |
|
Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr... |
OMIM:609049 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Dysphagia |
ORPHA:637 |
Norrie Disease |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic atrophy, Self-injurious behavi... |
ORPHA:649 |
Neuroocular Syndrome |
|
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma, Attention deficit hyperact... |
OMIM:619539 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:300166 |