| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Scoliosis, Decreased body weight |
OMIM:616311 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Obesity, Infertility, Oligozoospermia |
OMIM:615703 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
| Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis |
ORPHA:2477 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Coffin-Siris Syndrome 8 |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Cryptorchidism, Thick lower lip ver... |
OMIM:618362 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Small for gestational age |
ORPHA:85288 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Thick ver... |
OMIM:309548 |
| Ck Syndrome |
|
Hyperactivity, Dental crowding, Hyperlordosis, Aggressive behavior, Kyphosis, Micrognathia, Irrit... |
OMIM:300831 |
| Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... |
ORPHA:66624 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Micrognathia, Short neck, Cleft palate, Abnormal vertebral morphology |
ORPHA:2015 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorc... |
OMIM:300200 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Thick ver... |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity |
ORPHA:3077 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Obesity |
OMIM:300602 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Mandibular prognathia, Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Ck Syndrome |
|
Microretrognathia, Hyperactivity, Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Aggressi... |
ORPHA:251383 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Dental malocclusion, Abnormal repetitive mann... |
OMIM:615541 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Truncal obesity, Polycystic ovaries |
ORPHA:284180 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors |
OMIM:301107 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Glossitis, Neutral h... |
OMIM:234500 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth... |
OMIM:601216 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Kyphoscoliosis, Hyperlordosis, Micrognathia, Carious te... |
OMIM:618363 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Scoliosis, Bruxism |
OMIM:300434 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, Depression, Self-injurious behavior, Th... |
OMIM:619467 |
| Polyembryoma |
|
Macroorchidism, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Dental crowding, Aggressive behavior, Micrognathia, Persistence of primary teeth, ... |
OMIM:618342 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Short neck, Cleft upper lip, Downturned corners of mouth, Truncal obesity, Short p... |
OMIM:613192 |
| Chromosome 3Q29 Deletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Small for gestational age, Aggressive behavior, Short ph... |
OMIM:609425 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Mandibular prognathia, Hyperactivity, Impulsivity, Aggressive behavior, Micrognathia, Cryptorchid... |
OMIM:604317 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal palate morphology, Aggressive be... |
ORPHA:208441 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism, Obesity |
OMIM:300055 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Small for gestational age, Micrognathia, Repetitive compulsive behavior, Kyphosis,... |
ORPHA:352490 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Small for gestational age, Dental crowding, Oral-pharyngeal... |
OMIM:610883 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... |
OMIM:229070 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability |
OMIM:605899 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Morm Syndrome |
|
Truncal obesity, Hyperactivity, Micropenis, Aggressive behavior |
ORPHA:75858 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Cleft upper lip, Cleft palate, Scoliosis,... |
OMIM:300958 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... |
OMIM:239500 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-injurious behavior, High palate, Scoliosis |
OMIM:620023 |
| 48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnorm... |
ORPHA:10 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Orofacial cleft, Scoliosis |
ORPHA:457260 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Small for gestational age, Micrognathia, Kyphosis, Deep philtrum, Wide mouth, Shor... |
OMIM:615834 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Failure to thrive, Hypospadias |
OMIM:618874 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
| Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Hyperactivity, Tented upper lip vermilion, Micrognathia, High, narrow palate, Inci... |
ORPHA:166108 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Hyperactivity, Hypospadias, Aggressive behavior, Kyphosis, Cryptorchidism,... |
OMIM:300354 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Cryptorchidism, Spina bifida occulta, Hypospadias |
OMIM:101805 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... |
OMIM:228300 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Obesity, Att... |
OMIM:301013 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Scolio... |
OMIM:620141 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cryptorchidism, Death in infancy |
OMIM:613730 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Thick vermilion border, Compulsive behaviors, Attention deficit hyperactivity diso... |
OMIM:619927 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Abnormality of the dentition, Irritability, T... |
ORPHA:391307 |
| Phenylketonuria |
|
Hyperactivity, Elevated urinary phenylpyruvic acid level, Increased level of hippuric acid in uri... |
OMIM:261600 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorchid... |
OMIM:617796 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
| Lead Poisoning |
|
Decreased female libido, Miscarriage, Small for gestational age, Abnormality of the menstrual cyc... |
ORPHA:330015 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Hyperactivity, Everted upper lip vermilion, Abnormality of the dentition, ... |
OMIM:182290 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Neonatal death |
OMIM:613390 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Tented upper lip vermilion, Macrodontia, Abnormal repetitive ... |
ORPHA:228402 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno... |
ORPHA:2975 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Exaggerated cupid's bow, Aggressive behavior, Obesity, D... |
OMIM:617752 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| 13Q12.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Kyphoscoliosis, Cryptorchidism, Obesity, Oligodontia, Ma... |
ORPHA:412035 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Hyperactivity, Small for gestational age, Hypospadias, Aggressive behavior, Sh... |
OMIM:123450 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hyperactivity, Hypospadias, Cryptorchidism, Spinal canal stenosis, Obesity... |
OMIM:614613 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Micrognathia, Fused cervical vertebrae, Thoracic kyphosis, Thick vermilion border,... |
ORPHA:530983 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Müllerian Aplasia And Hyperandrogenism |
|
Short neck, Obesity, Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnormal vagina morp... |
ORPHA:247768 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... |
OMIM:300219 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Reduced radioactive iodine uptake, Decreased circulating T4 concentration, Pituitary hypothyroidi... |
ORPHA:90674 |
| Myotonic Dystrophy 2 |
|
Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Elevated circulating follicle sti... |
OMIM:602668 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de... |
ORPHA:96263 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Smooth philtrum, Thin upper lip vermilion, Hyperactivity, Small for gestational age, Failure to t... |
OMIM:614104 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Mandibular prognathia, Hyperactivity, Aggressive behavior, Narrow palate, Recurrent hand flapping... |
OMIM:615516 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Abnormal s... |
ORPHA:3109 |
| Carney Complex |
|
Increased body weight, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystadenoma... |
ORPHA:1359 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Mandibular prognathia, Hyperactivity, Obesity, Wide mouth, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Scoliosis, Recurrent hand... |
OMIM:617600 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short neck, Aggressive behavior, Micrognathia, Narrow mouth, Obesity, Narrow palate, Hypoplasia o... |
OMIM:620250 |
| Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ... |
OMIM:613684 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Dysphoria, Depression, High palate,... |
OMIM:620242 |
| Lymphatic Malformation 12 |
|
Hydrocele testis, Neonatal death, Death in adolescence |
OMIM:620014 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Abnormal de... |
ORPHA:96264 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hyperactivity, Hypoplasia of the maxilla, Crowded maxillary incisors, Obesity |
ORPHA:397973 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia |
ORPHA:500180 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, I... |
ORPHA:449291 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Hyperactivity, Hypospadias, Micrognathia, Cryptorchidism, Pi... |
OMIM:617516 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... |
ORPHA:314478 |
| Satoyoshi Syndrome |
|
Hyperlordosis, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abno... |
ORPHA:3130 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Hypoplasia of penis, Cachexia, Short neck, Aggressive behavior, Kyphosis, Open bit... |
ORPHA:85293 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Obesity... |
OMIM:618430 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Carious teeth, Glossoptosis, Platyspondyly, Cervical... |
ORPHA:93346 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odont... |
OMIM:253000 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Hyperactivity, Abnormal eating behavior, Protruding tongue, Tongue thrusti... |
ORPHA:98794 |
| Trisomy 20P |
|
Macroorchidism, Cryptorchidism, Hypospadias |
ORPHA:261318 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Increased circulating cortisol level, O... |
ORPHA:786 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Kyphoscoliosis, Heparan sulfate excretion in urine, Ovoid thoracolumbar vertebrae,... |
OMIM:252930 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Tongue thrusting, Pica, Downturned corners of mouth, Stereotypical body rocking, T... |
OMIM:617865 |
| Pycnodysostosis |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, Persistence of primary t... |
OMIM:265800 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... |
OMIM:615709 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Kyphoscoliosis, Aggressive b... |
OMIM:620075 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Hypospadias, Micrognathia, Wide mouth, Widely-spaced max... |
ORPHA:363686 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Depression, Truncal obesity, Ovarian cyst, Agitation, Emotional lability |
OMIM:610475 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Irritability, Polyphagia, Goiter |
OMIM:275000 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp... |
ORPHA:485405 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Restlessness, Hyperactivity, Thin upper lip vermilion, Aggressive behavior... |
OMIM:300534 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Ovarian Fibroma |
|
Gonadal calcification, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Seckel Syndrome 1 |
|
Hyperactivity, Hypospadias, Dental crowding, Selective tooth agenesis, Micrognathia, Cryptorchidi... |
OMIM:210600 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Obesity, Wide... |
OMIM:105830 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Lumbar hyperlordosis, Dental crowding, Aggressive behavi... |
OMIM:616078 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Abnormali... |
ORPHA:582 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Tented upper lip vermilion, Obesity, Dysphagia, Enuresis, Scoliosis, Decreased bod... |
ORPHA:589821 |
| Rauch-Steindl Syndrome |
|
Sacral dimple, Hyperactivity, Aggressive behavior, Micrognathia, Bilateral renal hypoplasia, Thin... |
OMIM:619695 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hypospadias, Short neck, Precocious puberty, Kyphosis, Cryptorchidism, Obesity, Cl... |
ORPHA:254346 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Oligozoospermia, De... |
ORPHA:125 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Hyperactivity, Ovoid thoracolumbar vertebrae, Aggressive beha... |
OMIM:252920 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Small for gestational age, Oligozoospermia, Clitoral hypoplasia, Failure to thrive, Breast hypopl... |
OMIM:614813 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
| Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Hyperactivity, Ovoid thoracolumbar vertebrae, Scoliosis |
OMIM:252900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Small scrotum, Cryptorchidism, Sh... |
OMIM:300486 |
| Gapo Syndrome |
|
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth, Platyspondyly, Scoliosis |
OMIM:126550 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Diastema, Kyphosis, Cryptorchidism, Supernumerary too... |
OMIM:619718 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Hyperactivity, Failure to thrive, Bifid uvula |
OMIM:619239 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Decreased circulating cortisol level,... |
ORPHA:95699 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Hyperactivity, Sacral dimple, Small for gestational age, Impulsivity, Cleft upp... |
OMIM:610443 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicoureteral... |
ORPHA:353281 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Short neck, Micrognathia, Hemivertebrae, Short philtrum, High palate, Abn... |
ORPHA:96121 |
| Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Thoracic scoliosis, Pilonidal sinus, Aggressive behavior, Short neck... |
OMIM:252940 |
| Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Precocious puberty in females, Aggressive behavior, Protrud... |
ORPHA:72 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Micrognathia, Elevated circulating growth hormone concentration, Decreased body we... |
OMIM:608747 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Hyperactivity, Failure to thrive, Steroid-dependent nephrotic syndrome, Ur... |
OMIM:300912 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Hyperactivity, Ectopic kidney, Cryptorchidism, Gingival overgrowth, Ho... |
OMIM:235510 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Small for gestatio... |
OMIM:619148 |
| Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Micrognathia, Pica, Renal cyst, High palate, Multicystic kidney dysplasia,... |
OMIM:614527 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Hyperactivity, Ovarian fibroma, Odontogenic keratocysts of the jaw, La... |
ORPHA:77301 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Hyperactivity, Small for gestational age, Selective tooth agenesis, Hyperlordosis, M... |
OMIM:234100 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... |
OMIM:615873 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Downturned corners of mouth, Short ... |
ORPHA:1299 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Failure to thrive, Macroorchidism |
OMIM:619950 |
| Hypoplasminogenemia |
|
Cervicitis, Gingival overgrowth, Nephrolithiasis, Gingivitis, Periodontitis, Abnormal fallopian t... |
ORPHA:722 |
| Distal Duplication 17Q |
|
Thin upper lip vermilion, Hyperactivity, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, ... |
ORPHA:3379 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Increased urinary porphobilinogen, Agit... |
ORPHA:100924 |
| Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Small for gestational age, Sho... |
OMIM:139210 |
| Distal Deletion 12Q |
|
Short neck, Ectopic kidney, Micrognathia, High, narrow palate, Vesicoureteral reflux, Micropenis,... |
ORPHA:96149 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Tented upper lip vermilion, Short neck, Cleft upper lip, Cryptorchidism, Cleft pal... |
OMIM:614294 |
| Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Small for gestational age, Cervical kypho... |
ORPHA:666 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Dental crowding, High, narrow palate, Obesity, Truncal obesity, Abdomi... |
OMIM:209900 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... |
ORPHA:1031 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Weight loss, Agitation, Thyroid hyperplasia, Goiter |
ORPHA:424 |
| Floating-Harbor Syndrome |
|
Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum,... |
ORPHA:2044 |
| Mend Syndrome |
|
Microretrognathia, Hyperactivity, Sacral dimple, Micrognathia, Kyphosis, Cryptorchidism, High pal... |
OMIM:300960 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... |
ORPHA:353277 |
| Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Long penis, Ovari... |
ORPHA:744 |
| Mend Syndrome |
|
Hyperactivity, Sacral dimple, Aggressive behavior, Micrognathia, Kyphosis, Cryptorchidism, Asymme... |
ORPHA:401973 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Tented upper lip vermilion, Short neck, Micrognathia, Widely-spaced maxillary cent... |
OMIM:309580 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Weight loss, Agitation, Thyroid hyperplasia, Goiter |
ORPHA:99819 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... |
ORPHA:99413 |
| Turner Syndrome |
|
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... |
ORPHA:99228 |
| Monosomy X |
|
Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Ectopic kidney, Kyphos... |
ORPHA:99226 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Scoliosis... |
ORPHA:457284 |
| Aspartylglucosaminuria |
|
Macroorchidism |
OMIM:208400 |
| Aspartylglucosaminuria |
|
Macroorchidism |
ORPHA:93 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Emotional lability, Hyperactivity, Hypoplastic ph... |
OMIM:620047 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Impulsivity, Chronic kidney disease, Alveolar ridge overgrowth, Tooth... |
ORPHA:642 |
| Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis |
ORPHA:3310 |
| Histidinemia |
|
Histidinuria, Hyperactivity |
ORPHA:2157 |
| Alström Syndrome |
|
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... |
ORPHA:64 |
