| 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 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Hypoplastic areola, Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus st... |
OMIM:616001 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic areola, Hypogonadism, Hypoplastic nipples |
OMIM:273400 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Atte... |
ORPHA:3000 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Scarf Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Craniosynostosis, Cryptorchidism, Perineal hypospadi... |
ORPHA:3134 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... |
ORPHA:3138 |
| 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 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| 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 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Hyperactivity, Cryptorchidism, Hypoplastic nipples, Clinodactyly of the 5th finger |
OMIM:618505 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| 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 |
| Scarf Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Low anterior hairline, Coronal crani... |
OMIM:312830 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Hypospadias, Multiple pterygia, Hypoplastic nipples, Pterygium, Hypoplastic female external genit... |
OMIM:177980 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Supernumerary nipple |
OMIM:619243 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Nablus Mask-Like Facial Syndrome |
|
Wide intermamillary distance, Sparse eyelashes, Sandal gap, Highly arched eyebrow, Tapered finger... |
OMIM:608156 |
| Ichthyosis With Confetti |
|
Decreased body weight, Clubbing, Hypoplastic nipples, Hypertrichosis |
OMIM:609165 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont... |
OMIM:603543 |
| Martin-Probst Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Chordee, Hypoplastic nipples, Microp... |
OMIM:300519 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Hypogonadism, Clinodact... |
ORPHA:1173 |
| Barber-Say Syndrome |
|
Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Shawl scrotum, Failure to thrive... |
ORPHA:1231 |
| Van Maldergem Syndrome 2 |
|
Bifid scrotum, Short fourth metatarsal, Wide cranial sutures, Hypospadias, Cryptorchidism, Clinod... |
OMIM:615546 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dislocated radi... |
OMIM:265000 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Wide intermamillary distance, Finger syndactyly, Congenital hip dislocation, Hypos... |
ORPHA:217346 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Small for gestational age, Thin eyebrow, Supernumerary nipple |
OMIM:617635 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Abnormality of the endocrine system, Hypoplastic nipples, Breast hypoplasia |
OMIM:129550 |
| Sialuria |
|
Synophrys, Long hallux, 2-3 toe syndactyly, Low posterior hairline, Hypoplastic nipples, Attentio... |
OMIM:269921 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Hypogonadism, Male |
|
Hypospadias, Male hypogonadism, Micropenis, Testicular atrophy, Gynecomastia |
OMIM:241100 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Hyperactivity, Failure to thrive in infancy, Short prox... |
ORPHA:261323 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Synophrys, Phocomelia, Clinodactyly of the 5th finger, Dislocated ra... |
OMIM:122470 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Prominent metopic ridge, Hypospadias, Supernumerary nipple, Aggressive behavior, Cryptorchidism, ... |
OMIM:618109 |
| Morbid Obesity And Spermatogenic Failure |
|
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility |
OMIM:615703 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Persistent open anterior fontanelle, Hypospadias, Small for gestational age, Me... |
OMIM:614866 |
| Short-Rib Thoracic Dysplasia 12 |
|
Wide intermamillary distance, Hypoplastic scapulae, Bowing of the legs, Patent ductus arteriosus,... |
OMIM:269860 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... |
OMIM:181450 |
| Czeizel-Losonci Syndrome |
|
Wide intermamillary distance, Hitchhiker thumb, 2-3 finger syndactyly, Clubbing of toes, Split fo... |
ORPHA:2437 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Abnormality of secon... |
ORPHA:649929 |
| Limb-Mammary Syndrome |
|
Syndactyly, Alopecia, Absent nipple, Toe syndactyly, Sparse eyebrow, 3-4 finger cutaneous syndact... |
ORPHA:69085 |
| Barber-Say Syndrome |
|
Inverted nipples, Brachydactyly, Absent nipple, Sparse eyelashes, Sparse eyebrow, Cryptorchidism,... |
OMIM:209885 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... |
OMIM:614962 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Tibial bowing, Micropenis, Hypospadias, Bicornuat... |
OMIM:269150 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Gynecomastia, Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Becker Nevus Syndrome |
|
Supernumerary nipple, Hypoplastic labia minora, Abnormal tibia morphology, Aplasia/Hypoplasia of ... |
ORPHA:64755 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla... |
OMIM:276820 |
| Adult Syndrome |
|
Sparse scalp hair, Wide intermamillary distance, Absent nipple, Fair hair, Toe syndactyly, Sparse... |
OMIM:103285 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Clinodactyly of the ... |
ORPHA:3255 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... |
ORPHA:1809 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
| Mgat2-Cdg |
|
Inverted nipples, Abnormality of the endocrine system, Patent ductus arteriosus, Hirsutism, Long ... |
ORPHA:79329 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, Low anterior hairline, Preaxial polydactyly, Coxa vara, Knee flexion co... |
OMIM:614976 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Toe syndactyly, Fine hair, Split f... |
ORPHA:978 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Supernumerary nipple, Short hallux, Tru... |
ORPHA:3224 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Impulsivity, Cryptorchidism, Synophrys, Low posterior hairline, Self-injuri... |
OMIM:618929 |
| Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Cryptorchidism, Prenatal death, Camptodactyly, Neonatal death |
OMIM:618393 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Tyshchenko Syndrome |
|
Cryptorchidism, Low anterior hairline, Thick hair, Supernumerary nipple |
OMIM:615102 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Synophrys, Low anterior hairline, Abnormality o... |
ORPHA:199 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachydactyly, Highly arched eyebrow, Large for gestational age, Broad 2nd toe, Clinodactyly, Low... |
OMIM:280000 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy, Gynecom... |
ORPHA:481 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Overlapping toe, Woolly hair, Synophrys, Patent ductus arteriosus, Hip dislocation, S... |
OMIM:618268 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Nipples, Supernumerary |
|
Supernumerary nipple |
OMIM:163700 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Postaxial hand polydactyly, Conge... |
ORPHA:2519 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Supernumerary nipple, Highly arched eyebrow, Campt... |
OMIM:619951 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Micropenis, Death i... |
OMIM:612289 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Toe syndactyly, Absence of Stensen duct, Hypogonadotropic hypogonadism, Decrea... |
OMIM:604292 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Wide intermamillary distance, Hypogonadotropic hypogonadism, Crypt... |
ORPHA:432 |
| Acces Syndrome |
|
Sparse scalp hair, Supernumerary nipple, Hip dislocation, Hip dysplasia, Split foot, Ectrodactyly... |
OMIM:619959 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Wide intermamillary distance, Hypoplastic nipples |
OMIM:156610 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Large for gestational age, Tibial bowing, Hypoplastic iliac wing, Sm... |
ORPHA:96334 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Toe syndactyly, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decrea... |
OMIM:129900 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Alg9-Cdg |
|
Inverted nipples, Prominent metopic ridge, Flared metaphysis, Broad ischia, Low posterior hairlin... |
ORPHA:79328 |
| 2P15P16.1 Microdeletion Syndrome |
|
Wide intermamillary distance, Prominent metopic ridge, Toe clinodactyly, Sandal gap, Camptodactyl... |
ORPHA:261349 |
| Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Supernumerary nipple, Tapered f... |
OMIM:610954 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... |
ORPHA:398079 |
| 49,Xyyyy Syndrome |
|
Eunuchoid habitus, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnorm... |
ORPHA:99330 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
| Woods Syndrome |
|
Frontal hirsutism, Limited elbow extension, 3-4 finger cutaneous syndactyly, Supernumerary nipple |
OMIM:615236 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Supernumerary nipple, Aggressive behavior |
OMIM:616083 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, Synophrys, 2-3 toe syndac... |
ORPHA:3306 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Diabetes mellitus, Small for gestational age, Brachydactyly, Short metatarsal, ... |
OMIM:614813 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Delayed closure of the anterior fontanelle, Sparse eyebrow, Hypoplast... |
OMIM:230740 |
| Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Hypoplastic areola, Aplasia/Hypoplasia of the nipples, Absent nipple, Aplasia/Hypoplasia of the b... |
OMIM:113700 |
| Incontinentia Pigmenti |
|
Alopecia, Supernumerary nipple, Fine hair, Coarse hair, Breast aplasia, Hypoplastic nipples, Nail... |
OMIM:308300 |
| Bainbridge-Ropers Syndrome |
|
Death in infancy, Arachnodactyly, Highly arched eyebrow, Supernumerary nipple, Precocious puberty... |
OMIM:615485 |
| 3Mc Syndrome |
|
Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidism, Craniosynostosis, Hip disl... |
ORPHA:293843 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Proximal placement of thumb, Absent t... |
OMIM:613390 |
| Tetraamelia Syndrome 2 |
|
Micropenis, Absent nipple |
OMIM:618021 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin eyebrow, Spa... |
ORPHA:1433 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Cryptorchid... |
OMIM:263750 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Broad hallux, Sparse eyebrow, Congenital hypothyroidism, Hy... |
OMIM:620186 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patent ductus arteriosus, ... |
OMIM:106260 |
| Focal Dermal Hypoplasia |
|
Brittle hair, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypopla... |
OMIM:305600 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Cryptorchidism, Hip dysplasia, Rocker bottom foot |
OMIM:611890 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Sandal gap, Supernumerary nipple, Cryptorchidism, Abnormal fibula morphology... |
ORPHA:1812 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Short metacarpal, Toe syndactyly, Absent eyelashes, Hypoplastic labia majora, Cut... |
OMIM:200110 |
| Myotonic Dystrophy 1 |
|
Frontal balding, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ... |
OMIM:160900 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... |
ORPHA:91351 |
| 49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Hypospadias, Small for gestational age, Supernumerary nipple, Proximal placement of thumb, Low an... |
OMIM:604314 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Bowing of the legs, Secondary amenorrhea, Lower limb undergrowth, Hirsutism, Prema... |
OMIM:612847 |
| Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
OMIM:616222 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:305100 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Poly... |
ORPHA:2229 |
| 2Q37 Microdeletion Syndrome |
|
Short palm, Sparse scalp hair, Wide intermamillary distance, Finger syndactyly, Short metacarpal,... |
ORPHA:1001 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Short palm, Broad hallux, Clinodactyly of the 2nd toe, Precocious puberty, Cryptorchidism, Coxa v... |
OMIM:620073 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Highly arched eyebrow, Supernumerary nipple, Aggressive behavio... |
ORPHA:261494 |
| Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Pat... |
ORPHA:46627 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Short metatarsal, Absent hallux, Micropenis, Hypospadias, Aplastic cl... |
OMIM:216340 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Supernumerary nipple, Highly arched eyebrow, Tapered finger, Cryptorchidism, Obe... |
OMIM:618653 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, 3-4 finger cutaneous syndactyly |
OMIM:612530 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Abnormality of the b... |
OMIM:200980 |
| Aarskog-Scott Syndrome |
|
Short palm, Hyperextensibility of the finger joints, Syndactyly, Elevated circulating luteinizing... |
OMIM:305400 |
| Hemochromatosis, Type 1 |
|
Arthropathy, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, ... |
OMIM:235200 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Supernumerary nipple, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Broa... |
OMIM:614376 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Compulsiv... |
ORPHA:398069 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... |
OMIM:300219 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Inverted nipples, Supernumerary nipple, Aggressive behavior, Sparse eyebrow, Synophrys, 2-3 toe s... |
OMIM:620098 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Toe syndactyly, Obesity |
ORPHA:217377 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Supernumerary nipple, Highly arched eyebrow, Tapered finger, Cryptorchidism, Synophrys, Short thu... |
OMIM:616728 |
| Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Aggressive behavior, Tapered finger, Cryptorchidism, Broad fingertip, Short... |
ORPHA:2896 |
| Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
| Lead Poisoning |
|
Decreased female libido, Small for gestational age, Miscarriage, Anorexia, Abnormality of the men... |
ORPHA:330015 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy |
OMIM:601163 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cryptorchidism, Death in infancy |
OMIM:613730 |
| Au-Kline Syndrome |
|
Inverted nipples, Wide intermamillary distance, Prominent metopic ridge, Overlapping toe, Supernu... |
OMIM:616580 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Brachydactyly, Hypospadias, Supernumerary nipple, Tapered finger, Sparse eyebr... |
ORPHA:477993 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Patent ductus arteriosus, Cubitus valgus |
OMIM:104350 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
| Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Failure to thrive, Diabetes mellitus, Hypospadias, Small for gestational age, ... |
OMIM:243800 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Hypopla... |
ORPHA:246 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Developmental And Epileptic Encephalopathy 51 |
|
Failure to thrive, Supernumerary nipple |
OMIM:617339 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
OMIM:176270 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse e... |
ORPHA:1521 |
| 19P13.3 Microduplication Syndrome |
|
Inverted nipples, Hyperactivity, Unilateral cryptorchidism, Precocious puberty, Long fingers, Hip... |
ORPHA:447980 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Sparse eyelashes, Hypospadias, Supernumerary nipple, Slow-growing hair, Sparse eyebro... |
OMIM:129400 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cryptorchidism, Premature pubarche |
ORPHA:457205 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, L... |
OMIM:213980 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Sand... |
ORPHA:813 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Abnormal repetitive mannerisms, Supernumerary nipple, Overfriendliness |
OMIM:616579 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Patent ductus arterio... |
OMIM:618454 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Infertility, Hypothyroidism, Gynecomastia, Female external genitalia ... |
OMIM:264300 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic h... |
ORPHA:465508 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A... |
OMIM:614736 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Wide intermamillary distance, Syndactyly, Prominent metopic ridge, Overlapping... |
OMIM:605039 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia... |
ORPHA:2232 |
| Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Clinodactyly of t... |
OMIM:201000 |
| Septopreoptic Holoprosencephaly |
|
Impulsivity, Precocious puberty, Dysphagia, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Oligozoospermia, Abnorma... |
ORPHA:2067 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
| Trisomy 12P |
|
Clinodactyly of the 5th finger, Thick eyebrow, Supernumerary nipple |
ORPHA:1699 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Hyperactivity, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostosis, Pr... |
ORPHA:254346 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Curly hair, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Ta... |
ORPHA:480880 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy, Nail dystrophy |
OMIM:618165 |
| Dystonia 28 |
|
Precocious puberty, Attention deficit hyperactivity disorder, Dysphagia, Clinodactyly of the 5th ... |
ORPHA:589618 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Acromicria, Small hand, Obesity, Short foot, Clinodactyly |
ORPHA:254525 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Decreased circulating T4 concentration, Cryptorchidism, Patent ductus arteriosu... |
OMIM:608104 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Bresek Syndrome |
|
Alopecia, Cryptorchidism, Postaxial hand polydactyly, Neonatal death, Decreased testicular size |
ORPHA:85284 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Wide intermamillary distance, Abnormal acetabulum morphology, Hypospadias, Supernumerary nipple, ... |
ORPHA:397715 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Small for gestational age, Cryptorchidism, Abnormal 5th finger morphology, Glandular ... |
ORPHA:1439 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Limited mobility of proximal interphalangeal joint, Dyspha... |
OMIM:222300 |
| Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Absent nipple, Highly arched eyebrow, Absent external genitalia... |
ORPHA:1299 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Supernumerary nipple, Aggressive behavior, Abnormal temper tantrums, ... |
ORPHA:457279 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Supernumerary nipple, Cryptorchidism, Hip dislocation, Clinodactyly of the 5th f... |
OMIM:613884 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Cryptorchidism, Patellar aplasia, Slender long bone, Failure to thrive, Breast h... |
OMIM:613804 |
| Myotonic Dystrophy 2 |
|
Frontal balding, Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Elevated circulating f... |
OMIM:602668 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Supernumerary nipple, Cryptorchidism, Elbow flexion contracture, Knee flexion co... |
OMIM:619194 |
| Lymphatic Malformation 12 |
|
Hydrocele testis, Neonatal death, Death in adolescence |
OMIM:620014 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi... |
OMIM:202110 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, H... |
OMIM:262190 |
| Oliver Syndrome |
|
Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand polydactyly, Elbow flexi... |
ORPHA:2920 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Medial flaring of the eyebrow, Precocious puberty, Synophrys, 2-3 toe cutaneous syndactyly, Low p... |
OMIM:300801 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Anterior pituitary hypoplasia, Supernumerary nipple, Aggressive behavior, Bilatera... |
ORPHA:466791 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow, Hydrocele testis, Neonatal death, Micropenis |
OMIM:618810 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Hyperactivity, Aggressive behavior, Decreased body weight |
OMIM:300958 |
| Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Low anterior ... |
ORPHA:528 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Small hand, Obesity, Short foot, Clinod... |
ORPHA:254531 |
| Carney Complex |
|
Increased body weight, Thyroid carcinoma, Neoplasm of the breast, Papillary thyroid carcinoma, Le... |
ORPHA:1359 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Nail dystrophy |
OMIM:613987 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Widow's peak, Supernumerary nipple |
OMIM:619122 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Inverted nipples, Prominent metopic ridge, Supernumerary nipple, Postaxial polydactyly, Sagittal ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Inverted nipples, Prominent metopic ridge, Supernumerary nipple, Postaxial polydactyly, Sagittal ... |
ORPHA:352665 |
| Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Hypoplasia of penis, Congenital hip dislocation, Hypospadias, Vertebral fusion,... |
ORPHA:373 |
| Lesch-Nyhan Syndrome |
|
Hip dislocation, Self-injurious behavior, Dysphagia, Testicular atrophy, Podagra |
OMIM:300322 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Anorexia, Precocious puberty, Ovarian neoplasm, Weight lo... |
ORPHA:370348 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| 3Mc Syndrome 1 |
|
Single interphalangeal crease of fifth finger, Supernumerary nipple, Highly arched eyebrow, Paten... |
OMIM:257920 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Patent ductus arteriosus, Coxa vara, Fine hair, Truncal obesity, Narrow pelvi... |
ORPHA:2637 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Impulsivity, Precocious puberty, Cryptorchidism, Synophrys, Long fingers, Hip di... |
ORPHA:96092 |
| Radio-Tartaglia Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Precocious puberty, Aggressive behavior, Syn... |
OMIM:619312 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... |
ORPHA:96182 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Head-banging, Short distal phalanx of toe, Bilateral triphalangeal thumbs, Sh... |
OMIM:619356 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Supernumerary nipple, Highly arched eyebrow, Shortening of all distal phalanges of the fingers, H... |
ORPHA:247262 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Cryptorchidism, Short long bone, Neonatal death, Pterygium |
OMIM:224410 |
| Donohue Syndrome |
|
Precocious puberty, Prominent nipples, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic isl... |
OMIM:246200 |
| Floating-Harbor Syndrome |
|
Enlarged joints, Humeral pseudarthrosis, Compulsive behaviors, Dislocated radial head, Short meta... |
ORPHA:2044 |
| 9P13 Microdeletion Syndrome |
|
External genital hypoplasia, Highly arched eyebrow, Precocious puberty, Attention deficit hyperac... |
ORPHA:324313 |
| Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5th finger, Sh... |
OMIM:136140 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Death in childhood, Neonatal death, Adducted thumb |
OMIM:619334 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive |
ORPHA:293181 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Abnormal repetitive mannerisms |
OMIM:619877 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Coronal hypospadias, Clinodactyly of the 5th finger, Neonatal death |
OMIM:619859 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Small for gestational age, D... |
ORPHA:125 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Broad thumb, Supernumerary nipple, Tapered finger |
ORPHA:1236 |
| Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Hypospadias, External genital hypoplasia, Precocious pu... |
ORPHA:2588 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Dysphagia, Neonatal ... |
OMIM:619751 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Synophrys, Obes... |
ORPHA:819 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Preaxial polydactyly, Obesity, Abnormal t... |
ORPHA:163681 |
| Pituitary Gigantism |
|
Premature pubarche, Elevated circulating growth hormone concentration, Increased circulating insu... |
ORPHA:99725 |
| Ollier Disease |
|
Precocious puberty, Abnormal metaphysis morphology |
ORPHA:296 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Alopecia, Camptodactyly of finger, Supernumerary nipple, Abnormal hair morphol... |
ORPHA:464 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Metopic synostosis, Neonatal... |
OMIM:620024 |
| Slc35A2-Cdg |
|
Inverted nipples, Failure to thrive in infancy, Camptodactyly of finger, Craniosynostosis, Coxa v... |
ORPHA:356961 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
| Atelosteogenesis, Type I |
|
Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Short femur, Brachyda... |
OMIM:108720 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Small for gestational age, Hypospadias, Cryptorchidism, Death in childhood, Neonatal death, Failu... |
OMIM:614052 |
| Oculoectodermal Syndrome |
|
Patent ductus arteriosus, Hyperactivity, Supernumerary nipple, Pineal cyst |
OMIM:600268 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Finger syndactyly, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Coarse hair, Clinodact... |
ORPHA:1071 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Gout, Hypoplasia of the ute... |
OMIM:137920 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
| Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Toe syndactyly, Supernumerary nipple, Imperforate hymen, Brachydactyly |
OMIM:100300 |
| Optic Pathway Glioma |
|
Precocious puberty |
ORPHA:2086 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Wide intermamillary distance, Hypospadias, Cryptorchidi... |
OMIM:312870 |
| Basilicata-Akhtar Syndrome |
|
Short palm, Precocious puberty, Short foot, Camptodactyly, Adducted thumb |
OMIM:301032 |
| Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Patchy alopecia, Pheochromocytoma |
ORPHA:2874 |
| Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Thick hair, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mell... |
ORPHA:769 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Tapered finger, Precocious puberty, Large for gestational age, Self-injurious behavior, Failure t... |
ORPHA:261652 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Wide intermamillary distance, Hypospadias, Arachnodactyly, Sparse eyebrow, Cryptorchidi... |
ORPHA:3063 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
| Tetrasomy 9P |
|
Joint dislocation, Absent gallbladder, Hyperactivity, Hypoplastic scapulae, Cryptorchidism, Small... |
ORPHA:3310 |
| Branchiooculofacial Syndrome |
|
Wide intermamillary distance, Hypospadias, Supernumerary nipple, Proximal placement of thumb, Cry... |
OMIM:113620 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Broad... |
OMIM:235730 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Clinodactyly of th... |
OMIM:616682 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Precocious puberty, Tapered finger, Synophrys, Limited elbow extension, Hip ... |
OMIM:301066 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Micropen... |
OMIM:270400 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Smal... |
ORPHA:2322 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Alopecia, Abnormal finger morphology, Abnormal toe morphology |
OMIM:163200 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
| Pallister-Killian Syndrome |
|
Small scrotum, Congenital hip dislocation, Camptodactyly of 2nd-5th fingers, Short palm, Sparse h... |
OMIM:601803 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Wide intermamillary distance, Septate vagina, Postaxial polydactyly, Preaxial... |
OMIM:617925 |
| Lymphatic Malformation 13 |
|
Hydrocele testis, Patent ductus arteriosus, Neonatal death |
OMIM:620244 |
| Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the uterus, Bicornuate uterus, Neonatal d... |
OMIM:601186 |
| Developmental And Epileptic Encephalopathy 89 |
|
Highly arched eyebrow, Sparse eyebrow, Hypoplastic labia minora, Hypoplastic labia majora, Death ... |
OMIM:619124 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... |
ORPHA:96191 |
| Faundes-Banka Syndrome |
|
Sparse scalp hair, Premature thelarche, Cryptorchidism, Dysphagia, Failure to thrive, Flexion con... |
OMIM:619376 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Precocious puberty, 2-3 toe syndactyly, Long eyelashes, Recurrent patellar dislocati... |
OMIM:615877 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... |
ORPHA:273 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Prominent fingertip pads, Impulsivity, Tapered finger, Precocious puberty, Long finge... |
OMIM:619950 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Tibial bowing, Femoral bowing, Uterine leiomyoma, Neonatal death |
OMIM:616482 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... |
ORPHA:363958 |
| Tolchin-Le Caignec Syndrome |
|
Inverted nipples, Arachnodactyly, Precocious puberty, Hirsutism, Attention deficit hyperactivity ... |
OMIM:618971 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Hypospadias, Small for gestational age, Highly arched eyebrow, Short hallux, Pr... |
OMIM:194190 |
| Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, ... |
ORPHA:636 |
| Meacham Syndrome |
|
Death in infancy, Septate vagina, Male pseudohermaphroditism, Patent ductus arteriosus, Blind vag... |
OMIM:608978 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Inverted nipples, Craniosynostosis, Precocious puberty, Patent ductus arterio... |
ORPHA:369837 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Adenoma sebaceum, Attention deficit hyperactivity disorder, Preauricular hair... |
OMIM:191100 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Bifid uterus, Absent eyelashes, Cryptorchi... |
OMIM:256520 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Type ... |
OMIM:619269 |
| Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Precocious puberty, Self-injurious behavior, Broad finger, Short finger, Micropeni... |
ORPHA:1934 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... |
ORPHA:93357 |
| Tay-Sachs Disease |
|
Precocious puberty, Ankle clonus, Dysphagia, Limited knee extension, Limited elbow extension |
ORPHA:845 |
| Alexander Disease |
|
Diabetes mellitus, Precocious puberty, Self-injurious behavior, Dysphagia, Failure to thrive, Hyp... |
ORPHA:58 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula, Thick eyebrow |
OMIM:608980 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter... |
ORPHA:438213 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Clinodactyly of the 5th finger, Neo... |
OMIM:609638 |
| Abcd Syndrome |
|
White eyelashes, White eyebrow, Large for gestational age, Albinism, Neonatal death |
OMIM:600501 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Hypothyroidism, Adenoma sebaceum, Attention deficit hyperactivity disorder |
OMIM:613254 |
| Pyknoachondrogenesis |
|
Short iliac bones, Abnormal iliac wing morphology, Short long bone, Aplastic pubic bone, Hypoplas... |
ORPHA:3003 |
| Restrictive Dermopathy 1 |
|
Sparse eyelashes, Hypospadias, Short nail, Adrenal hypoplasia, Absent eyelashes, Sparse eyebrow, ... |
OMIM:275210 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Hypospadias, Death in infancy, Absent eyelashes, Cry... |
OMIM:308205 |
| Aicardi Syndrome |
|
Block vertebrae, Precocious puberty, Small hand, Hip dysplasia, Delayed puberty, Sparse lateral e... |
ORPHA:50 |
| Williams Syndrome |
|
Hypoplasia of penis, Compulsive behaviors, Clinodactyly of the 5th finger, Hypothyroidism, Hypogo... |
ORPHA:904 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Type I diabetes mellitus, Neonatal death, Hitchhik... |
OMIM:618500 |
| Aicardi Syndrome |
|
Precocious puberty, Block vertebrae, Proximal placement of thumb, Sparse lateral eyebrow |
OMIM:304050 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Persistent cloaca |
OMIM:615709 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic fibrosis, Pancreatic cysts, Patent ductus arteriosus, Bile duct proliferation, Hyperec... |
OMIM:208540 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Patent ductus arteriosus, Bicornuate uterus, Neonatal death, Annular pancreas |
OMIM:265380 |
| 17Q11 Microdeletion Syndrome |
|
Wide intermamillary distance, Bowing of the legs, Precocious puberty, Breast carcinoma, Glomus ju... |
ORPHA:97685 |
