Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... |
ORPHA:90646 |
Deafness, Conductive, With Malformed External Ear |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... |
OMIM:221300 |
Thyroid Dyshormonogenesis 5 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274800 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Seckel Syndrome 7 |
|
Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Micro... |
OMIM:614851 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bowing of the long bones, Bulging epiphyses, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia, Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Primary amenorrhea, Protruding ear, Hypoplasia of the uterus, Increased serum test... |
ORPHA:247768 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Wilson-Turner Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Uplifted earlobe, Cryptorchidism, Microtia |
ORPHA:3459 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... |
OMIM:617565 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Conductive hearing impai... |
OMIM:601076 |
3-Hydroxyisobutyric Aciduria |
|
Intrauterine growth retardation, Microtia, Hypogonadotropic hypogonadism, Cerebral cortical atrophy |
ORPHA:939 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism, Intrauterine growth retardation, Microtia, Low-set ears |
OMIM:617564 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Short stature, H... |
OMIM:615866 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Agonadism, Sex reversal, Hypopl... |
OMIM:154230 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Primary amenorrhea, Vaginal atresia, Low-set ears |
OMIM:191830 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Aarskog-Scott Syndrome |
|
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... |
OMIM:305400 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... |
OMIM:110100 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Low-set ears |
OMIM:601163 |
Pseudoachondroplasia |
|
Irregular acetabular roof, Limited hip extension, Distal joint laxity, Generalized joint laxity, ... |
ORPHA:750 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Cryptorchidism, Microtia |
ORPHA:1703 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia, Low-set ears |
OMIM:616258 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the ute... |
ORPHA:1655 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... |
OMIM:262700 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cryptorchidism, Optic atrophy, Microtia, Vaginal atresia |
ORPHA:3301 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Opti... |
OMIM:222300 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... |
ORPHA:970 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Wolfram-Like Syndrome |
|
Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineural hearing impairment, Optic ... |
ORPHA:411590 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Hemidystonia-Hemiatrophy Syndrome |
|
Rhizomelic leg shortening, Dense calvaria, Hemiatrophy |
ORPHA:306741 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Short stature, Hearing impairment, Increased circu... |
ORPHA:243 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... |
OMIM:617690 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Posteriorly rotated ears, Short stature, Elevated circulating luteinizing hormone level, Sensorin... |
OMIM:618419 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal pinna morphology, Wide anterior fontanel, Hypoplastic labia majora, Stenosis of the exte... |
OMIM:207410 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... |
ORPHA:1435 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... |
OMIM:614841 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... |
ORPHA:2635 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... |
ORPHA:2741 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipid... |
OMIM:209900 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality... |
ORPHA:861 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... |
OMIM:301035 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Severe short stature, Hypospadias, Decreased response to growth hormone stimulation test, Posteri... |
OMIM:618336 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Abnormality of the parathyroid gland, Microtia, Atresia of the external auditory ... |
ORPHA:3429 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Mic... |
ORPHA:79113 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Enlarged vestibula... |
OMIM:600791 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Cryptorchidism, Cerebral atrophy, Microtia, Low-set ears, Umbilical hernia, Micropenis |
ORPHA:171839 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal... |
OMIM:618078 |
Coxoauricular Syndrome |
|
Microtia, Short stature, Hearing impairment |
OMIM:122780 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Spinal dysraphism, Microtia, Micropenis, Abnor... |
ORPHA:1926 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Microtia, Hypogonadism, Se... |
ORPHA:2983 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Polycystic ovaries, Gonadal dysgenesis, Microti... |
ORPHA:1770 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus,... |
OMIM:601186 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... |
ORPHA:93351 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Hearing impairment |
ORPHA:2578 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Osteoarthritis, Abnormality of radial epiphyses, Arthr... |
ORPHA:166002 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Hearing impairment, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma... |
OMIM:615109 |
Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Abnormal pinna morphology, Abnormal cortical gyration, Cryptorchidism... |
OMIM:219000 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Simplified gyral pattern, Microlissencephaly, Hypoplasia o... |
OMIM:617914 |
Johnson Neuroectodermal Syndrome |
|
Severe short stature, Facial palsy, Protruding ear, Microtia, Hypogonadism, Atresia of the extern... |
ORPHA:2316 |
Femoral-Facial Syndrome |
|
Short stature, Maternal diabetes, Cryptorchidism, Long penis, Microtia, Low-set ears |
ORPHA:1988 |
Pendred Syndrome |
|
Hyperparathyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of ... |
ORPHA:705 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Unilateral cryptorchidism, Atresia of the external audit... |
OMIM:300946 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Satoyoshi Syndrome |
|
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
ORPHA:3130 |
Ohdo Syndrome |
|
Small scrotum, Short stature, Cryptorchidism, Microtia, Stenosis of the external auditory canal, ... |
OMIM:249620 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Hearing impairment, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma... |
OMIM:615108 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... |
OMIM:113650 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Streak ovary, Hypospadias, Aganglionic megacolon, Wide anterior fontan... |
ORPHA:798 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction |
ORPHA:481 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Short stature, Maternal diabetes, Abnormality of the middle ear ossicles, Sensorineural hearing i... |
ORPHA:2549 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Cerebellar atrophy, Testicular atrophy |
ORPHA:276183 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Posteriorly rotated ears, Decreased res... |
OMIM:146510 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypop... |
ORPHA:2166 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... |
OMIM:615925 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Diabetes mellitus, Hypospadias, External genital hypoplasia |
OMIM:605231 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Sensorineural hear... |
OMIM:157640 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Hearing impairment, Elevated circ... |
OMIM:274300 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Low-set ears, Adrenal gland agenesis... |
OMIM:273395 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Posteriorly rotated ears, Precocious puberty, Cerebral atrophy, Growth... |
ORPHA:447980 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Hearing impairment, Non-obstructive azoospermia, Cr... |
ORPHA:2232 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Severe short stature, Posteriorly rotated ears, Thyroid agenesis, Cryptorchid... |
ORPHA:3047 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Severe sensorineural hearing impairment, Conductive hearing impairment, Hypothyro... |
OMIM:620186 |
Apert Syndrome |
|
Cryptorchidism, Rhizomelic arm shortening, Chronic otitis media, Vaginal atresia, Hearing impairment |
OMIM:101200 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Microtia, Delayed puberty, Hypothyroidism |
ORPHA:2994 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Short stature, Adrenal hypoplasia |
OMIM:619151 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Hearing impairment, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcino... |
OMIM:158350 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Small scrotum, Hypospadias... |
ORPHA:2052 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal vestibular function, Abnormal sperm tail morphology, Abnormal spermato... |
OMIM:611102 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Microtia |
OMIM:608393 |
Myotonic Dystrophy 1 |
|
Cerebral atrophy, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Postnatal growth retardation, Cryptorchidism, Microtia, Recurrent otitis media, In... |
ORPHA:2728 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Li... |
ORPHA:177 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Glandular hypospadias, Growth delay, Uterine leiomyoma, Microtia, Low-set ears, H... |
ORPHA:1439 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasis, Decreas... |
OMIM:240300 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... |
OMIM:308700 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Sensorineural h... |
ORPHA:2789 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Sensorineural hearing impairment, Male infertility, Immotile sperm |
OMIM:608653 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Microtia, Short stature |
OMIM:248910 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula, Sensorineural hearing impairment |
ORPHA:2597 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:614842 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... |
ORPHA:672 |
Atelis Syndrome 1 |
|
Microtia, Hypothyroidism, Glue ear |
OMIM:620184 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Short stature, Asymmetry of the ears, Cryptorchidism, Cupped ear, EEG abnormality, A... |
ORPHA:3063 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Hypospadias, Posteriorly rotated ears, Short stature, Rhizomelia, Postnatal g... |
OMIM:611209 |
Saethre-Chotzen Syndrome |
|
Short stature, Prominent crus of helix, Cryptorchidism, External ear malformation, Sensorineural ... |
ORPHA:794 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis |
OMIM:184460 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Microtia |
OMIM:612138 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn... |
ORPHA:2097 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Conductiv... |
OMIM:201750 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Postnatal growth retardation, Cryptorchidism, Bilateral facial palsy, Macrotia |
ORPHA:319332 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Cryptorchidism, Microtia, Rhizo-meso-acromelic limb shortening, Short stature |
ORPHA:163654 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Hypothyroidism, Hearing impairment, Goiter |
OMIM:617577 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Se... |
ORPHA:95716 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Short stature, Cryptorchidism, Aplasia/Hypoplasia of the external ear, Low-set ears, Intrauterine... |
ORPHA:505237 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Short stature, Rhizomelia, Postnatal growth retar... |
ORPHA:709 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Short... |
OMIM:616809 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Genu valgum,... |
OMIM:614078 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Microtia |
ORPHA:2547 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Microtia |
OMIM:618158 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Short stature, Abnorma... |
ORPHA:209905 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Hypospadias, Short sta... |
ORPHA:813 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Meier-Gorlin Syndrome 6 |
|
Severe short stature, Posteriorly rotated ears, Decreased response to growth hormone stimulation ... |
OMIM:616835 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Microtia, Hypergonadotropic hypogonadism |
OMIM:212112 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Periventricular nodular heterotopia, Cryptorchidism, Sensorineural he... |
OMIM:615546 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Fg Syndrome Type 1 |
|
Hypospadias, Optic nerve hypoplasia, Short stature, Cryptorchidism, Sensorineural hearing impairm... |
ORPHA:93932 |
Buratti-Harel Syndrome |
|
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Microtia, Low-set ears |
OMIM:619314 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno... |
ORPHA:163634 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Euthyroid goiter |
ORPHA:3327 |
Meier-Gorlin Syndrome 2 |
|
Abnormal pinna morphology, Short stature, Hypoplastic labia majora, Birth length less than 3rd pe... |
OMIM:613800 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Posteriorly rotated ears, Short stature, Abnormality of the middle ear ossicl... |
OMIM:130720 |
Proximal 16P11.2 Microduplication Syndrome |
|
Micropenis, Microtia, Short stature |
ORPHA:370079 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Short stature, Amenorrhea |
OMIM:600705 |
Acrocephalopolydactyly |
|
Microtia |
ORPHA:221054 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Cryptorchidism, Birth length less than 3rd percentile, Microtia, Low-set ears, Int... |
OMIM:613804 |
Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Goiter |
OMIM:274240 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Decreased circulating parathyroid hormone level, Bowing o... |
OMIM:241530 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Sensorineural hearing impairment, Cupped ear, Hydrocele testis, Micr... |
ORPHA:314588 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, ... |
ORPHA:52429 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Micrognathia |
OMIM:300831 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Infertility, Erectile dysfunction, ... |
ORPHA:465508 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Limitation of joint mobility, Micromelia, Coxa vara |
ORPHA:168555 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Short stature, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hy... |
OMIM:309801 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo... |
ORPHA:429 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Microtia, M... |
OMIM:603467 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... |
OMIM:614732 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Low-set, posteriorly rotated ears, Cryptorchidism, Thickened ears, Growth delay, M... |
ORPHA:363659 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Small scrotum, Posteriorly rotated ears, Cryptorchidism, Cerebral atrophy, Growth delay, Microtia... |
OMIM:601353 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Bilateral sensorineural hearing impairment, Macrotia, Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ... |
ORPHA:1486 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Posteriorly rotated ears, Rhizomelia, Oligozoospermia, Growth delay, Clitoral ... |
OMIM:614813 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Short stature, Low-set ears |
OMIM:614701 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Meier-Gorlin Syndrome 5 |
|
Small earlobe, Short stature, Cryptorchidism, Birth length less than 3rd percentile, Microtia, Lo... |
OMIM:613805 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... |
OMIM:609166 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Posteriorly rotated ears, Protruding ear, Microtia, Low-set ears, Hypothyroidism |
OMIM:618829 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Supernumerary nipple, Cryptorchidism, Microtia, Low-set ears |
OMIM:612530 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Hypospadias, Aplasia/Hypoplasia of the earlobes, Hypoplastic l... |
ORPHA:1642 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis, Cone-shaped epip... |
OMIM:184260 |
Hemifacial Atrophy, Progressive |
|
Microtia, Horner syndrome |
OMIM:141300 |
Meier-Gorlin Syndrome 1 |
|
Incomplete partition of the cochlea type II, Cryptorchidism, Hypoplastic labia minora, Hypoplasti... |
OMIM:224690 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Catifa Syndrome |
|
Microtia |
OMIM:618761 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Primary amenorrh... |
OMIM:612702 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp... |
ORPHA:1803 |
49,Xxxyy Syndrome |
|
Low-set, posteriorly rotated ears, External genital hypoplasia, Abnormality of the testis size, I... |
ORPHA:261534 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Postnatal growth retardation, Cryptorchidism, Optic at... |
OMIM:615419 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Growth delay, EEG abnormality, Microtia, Micropenis |
OMIM:617798 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal morphology of female internal genitalia, Cerebral cortical atrophy, Microtia, Short stature |
ORPHA:1834 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Supernumerary nipple, Atresia of the external auditory canal, Conductive hearing imp... |
OMIM:106260 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Microtia, third degree, Hypospadias, Posteriorly rotated ears, Severe short ... |
ORPHA:2554 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Posteriorly rotated ears, Short stature, Cryptorchidism, Hypoplastic ... |
OMIM:613803 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Intrauterine growth retardation, Microtia, Abnormality of the uterus |
ORPHA:1788 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Metaphyseal widening, Squared iliac bones, Short long bone,... |
OMIM:618961 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Short stature, Rhizomelia, Cryptorchidism, Atresia of the external auditory canal, Conductive hea... |
OMIM:602471 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... |
OMIM:602588 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Sensorineural hearing impairment, Uterus didelphys, Primary a... |
OMIM:146255 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Hydrometrocolpos, Vaginal atresia, Low-set ears |
OMIM:617088 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Missing ribs, Joint stiffness, Micrognathia, Limitation of ... |
ORPHA:1801 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Bilobate gallbladder, Protruding ear, Clitoral hypoplasia, Hypospadias,... |
OMIM:261540 |
Ollier Disease |
|
Abnormal metaphysis morphology, Osteolysis, Micromelia, Joint stiffness |
ORPHA:296 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Bilateral cryptorchidism, Wide anterior fontanel, Cupped ear, Microtia, Low-set... |
OMIM:617746 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274400 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Achondrogenesis |
|
Micrognathia, Abnormality of bone mineral density, Micromelia, Abnormal enchondral ossification |
ORPHA:932 |
Charge Syndrome |
|
Bifid scrotum, Hypoplasia of the semicircular canal, Micropenis, Low-set, posteriorly rotated ear... |
ORPHA:138 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Posteriorly rotated ears, Cryptorchidism, Stenosis of the external auditory canal,... |
OMIM:300895 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Posteriorly rotated ears, Postnatal growth retardation, Cryptorchidism, Sensorineura... |
OMIM:301040 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
6Q16 Microdeletion Syndrome |
|
Microtia, Low-set ears, Abnormal ear morphology |
ORPHA:171829 |
20P12.3 Microdeletion Syndrome |
|
Thickened helices, Microtia, Short stature |
ORPHA:261295 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Growth delay, Testicular atrophy, Short stature |
OMIM:618165 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und... |
OMIM:602557 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Cryptorchidism... |
OMIM:601808 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... |
OMIM:609616 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H... |
ORPHA:2249 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Abnormal epiph... |
ORPHA:2631 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Trisomy 8P |
|
Posteriorly rotated ears, Cryptorchidism, Aplasia/Hypoplasia of the tragus, Micropenis, Abnormal ... |
ORPHA:264450 |
Hand-Foot-Genital Syndrome |
|
Microtia, Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Vaginal atresia, Hydrometrocolpos |
OMIM:615989 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... |
OMIM:617952 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Short stature, Abnormality of the m... |
ORPHA:949 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Supernumerary nipple, Cupped ear, Microtia, Conductive hearing... |
ORPHA:246 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal hip b... |
ORPHA:93160 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnormal morphology of... |
ORPHA:2633 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... |
ORPHA:157215 |
Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:141400 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Postnatal growth retardation, Abnormal external genitalia, Short stature, Protruding ear |
ORPHA:231140 |
Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, Microtia, Hypospadias, Short stature |
OMIM:164220 |
Proteus Syndrome |
|
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
Zechi-Ceide Syndrome |
|
Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Conductive hearin... |
ORPHA:217017 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, He... |
ORPHA:201 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Microtia, Optic atrophy, Short stature |
ORPHA:1597 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility |
OMIM:261550 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Abnormal pinna morphology, Short stature, Spina bifida, Mesomelic/rhizomelic lim... |
ORPHA:2839 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Severe short stature, Microtia, Atresia of the external auditory c... |
ORPHA:2213 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Encephalocele, Microtia |
ORPHA:398156 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Small scrotum, Posteriorly rotated ears, Anterior pituitary hypoplasia, Adre... |
ORPHA:264200 |
Chromosome 16Q22 Deletion Syndrome |
|
Posteriorly rotated ears, Hypospadias, Postnatal growth retardation, Cryptorchidism, Sensorineura... |
OMIM:614541 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Wide anterior fontanel, Sensorineural hearing impairment, Subcortical band heterotop... |
OMIM:601390 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Optic atrophy, Microtia, Intrauterine growth retardation, Hearing impairment |
ORPHA:1914 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Microtia |
ORPHA:139450 |
Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Aganglionic megacolon, Short stature, Postnatal growth retardation, Cr... |
ORPHA:3338 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... |
ORPHA:3097 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Brachydactyly |
ORPHA:40 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Short stature, Microtia, Posteriorly rotated ears, Low-set ears |
OMIM:618089 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossification, Short foot, Shor... |
ORPHA:93299 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, EEG with burst suppression, Aplasia/Hypoplasia of the external ear, Low-set e... |
ORPHA:168486 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Short stature, Spina bifida, Microtia, Intra... |
ORPHA:1327 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Spina bifida, Cryptorchidism, Anotia, Abnormal fallopian tube morphology,... |
ORPHA:3412 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Short stature, Absence of pubertal development, Gray matter heterotopia, Microtia, C... |
ORPHA:314679 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Multiple Synostoses Syndrome 1 |
|
Conductive hearing impairment, Stapes ankylosis, Bilateral conductive hearing impairment, Progres... |
OMIM:186500 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Microtia, Short stature, Low-set ears, Hearing impairment |
OMIM:619056 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Low-set, poste... |
ORPHA:254525 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Cryptorchidism, Meningoencephalocele, Op... |
OMIM:236670 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Microtia, Short stature, Intrauterine growth retardation |
ORPHA:2145 |
Dent Disease 1 |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Distal Xq28 Microduplication Syndrome |
|
Absent antihelix, Microtia, Hypothyroidism, Short stature |
ORPHA:293939 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Meier-Gorlin Syndrome 7 |
|
Hypospadias, Short stature, Cryptorchidism, Sensorineural hearing impairment, Wide anterior fonta... |
OMIM:617063 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Male pseudohermaphroditism, Microtia, Shawl scrotum, ... |
ORPHA:2282 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidism, Abnormali... |
ORPHA:397590 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal ... |
OMIM:236700 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Short stature, Simple ear |
OMIM:619318 |
Hypotonia-Cystinuria Syndrome |
|
Posteriorly rotated ears, Facial palsy, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:606407 |
Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Abnormal enchondral ossification, Short foot, Talipes equinovarus |
ORPHA:93298 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Growth delay, Microtia, Hearing impairment |
OMIM:616006 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Abnormal pinna morphology, Thickened helices, Anteverted ears, Cryptorchidism, Growth delay, Micr... |
OMIM:617641 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... |
ORPHA:168558 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportionate short stature, Mi... |
OMIM:210720 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Coxa valga, Hip dislocation, O... |
ORPHA:2484 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta... |
ORPHA:93352 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Adrenal hypoplasia, Mild intrauterine growth retardation, Stillbirth, Umbilical he... |
OMIM:308050 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Wide anterior fontanel, Sensorineural hearing impairment, Bicornuate ut... |
ORPHA:2143 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Microtia, Low-set ears |
ORPHA:357175 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Hypoplastic labia majora, Atresia of the external ... |
ORPHA:2328 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter |
ORPHA:319487 |
16P13.11 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Sensorineural hearing impairment, Abnormality of neuronal migratio... |
ORPHA:261236 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Short stature, Maturity-onset diabetes of the young... |
ORPHA:96149 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Posteriorly rotated ears, Cervix cancer, Multinodular goiter |
OMIM:620189 |
Short Stature And Facioauriculothoracic Malformations |
|
Proportionate short stature, Cupped ear, Microtia, Low-set ears, Overfolded helix |
OMIM:609654 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Septate vagina, Wide anterior fontanel, Uterus did... |
OMIM:617925 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Mesomelia, Brachydactyly, Micrognathia |
ORPHA:1277 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Acitretin/Etretinate Embryopathy |
|
Microtia, Hypoplasia of the thymus, Bilateral sensorineural hearing impairment, Cupped ear |
ORPHA:40366 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Microtia, Low-set ears |
OMIM:615162 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micrognathia, Micromelia, Abnorm... |
ORPHA:93329 |
Aymé-Gripp Syndrome |
|
Posteriorly rotated ears, Short stature, Postnatal growth retardation, Cryptorchidism, Sensorineu... |
ORPHA:1272 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Decreased response to growth hormone stimulation test, Secondary amenorrhea, Pineal... |
ORPHA:529962 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent... |
OMIM:616229 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Sensorineural hearing impairm... |
ORPHA:2315 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Hydrocele testis, Microtia, Brain atrophy, Low-set ears |
OMIM:613603 |
Otofaciocervical Syndrome |
|
Short stature, Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory ca... |
ORPHA:2792 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Micromelia |
OMIM:600972 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Even-Plus Syndrome |
|
Severe short stature, Microtia |
OMIM:616854 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short stature, Postnatal growth retardation, Cupped ear, Protruding ear, Microtia, Low-set ears, ... |
OMIM:156200 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Decreased fertility in males, Delayed ... |
ORPHA:2965 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
Weiss-Kruszka Syndrome |
|
Hearing impairment, Cupped ear, Protruding ear, Microtia, Low-set ears, Overfolded helix, Horizon... |
OMIM:618619 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Overfolded helix, Microtia, Hypospadias, Lop ear |
ORPHA:436003 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Short stature, EEG abnormality, Hypoplasia of the ear cartilag... |
ORPHA:1035 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... |
OMIM:612290 |
Laron Syndrome |
|
Limb undergrowth, Decreased serum insulin-like growth factor 1, Short long bone |
OMIM:262500 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Cupped ear, Microtia, Posteriorly rotated ears, Low-set ears |
OMIM:619873 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi... |
ORPHA:1427 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Microtia |
OMIM:620137 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistula, Overfolded helix, Spina bi... |
OMIM:617466 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Acrootoocular Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Sensorineural hearing impai... |
ORPHA:2980 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Decreased response to growth hormone stimulation test, Cryptorchidism... |
OMIM:619503 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:239800 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... |
OMIM:166210 |
Monosomy 9P |
|
Hypospadias, Cryptorchidism, Abnormal antihelix morphology, Anotia, Microtia, Atresia of the exte... |
ORPHA:261112 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Growth delay, Microtia, Umbilical hernia, Atresia of the external auditory c... |
ORPHA:920 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Cousin Syndrome |
|
Posteriorly rotated ears, Rhizomelia, Ambiguous genitalia, female, Disproportionate short stature... |
OMIM:260660 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Growth delay, Testicular atrophy |
OMIM:613987 |
Mandibulofacial Dysostosis With Alopecia |
|
Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of th... |
OMIM:616367 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia |
ORPHA:2772 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Anotia, Microtia, Low-set ears, Aplasia of the uterus, Intrauterine growth retardat... |
OMIM:614083 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... |
OMIM:164900 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Posteriorly rotated ears, Proportionate short stature, Cryptorchidism, Microtia, Shawl scrotum, H... |
OMIM:227330 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Decreased circul... |
OMIM:241410 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Cryptorchidism, Meningocele, Disproportionate short stature, Protruding ear,... |
ORPHA:2879 |
Silver-Russell Syndrome 3 |
|
Short stature, Unilateral cryptorchidism, Postnatal growth retardation, Low-set ears, Ambiguous g... |
OMIM:616489 |
Recombinant Chromosome 8 Syndrome |
|
Posteriorly rotated ears, Postnatal growth retardation, Cryptorchidism, Cerebral atrophy, Growth ... |
OMIM:179613 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Growth delay, EEG abnormality, Low-s... |
OMIM:613792 |
Barber-Say Syndrome |
|
Abnormal pinna morphology, Breast aplasia, Hypoplastic nipples, Atresia of the external auditory ... |
ORPHA:1231 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia of the uterus |
ORPHA:3320 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Microtia, third degree, Monorchism, Posteriorly rotated ears, Severe s... |
ORPHA:2753 |
Mullegama-Klein-Martinez Syndrome |
|
Short stature, Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Atresia o... |
OMIM:301022 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Pachygyria, Cryptorchidism, Sens... |
OMIM:612513 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Short stature, Cerebral atrophy, Protruding ea... |
OMIM:301030 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Short stature, Hearing impairment, Cryptorchidism... |
ORPHA:96121 |
Crouzon Syndrome |
|
Conductive hearing impairment, Optic atrophy, Atresia of the external auditory canal, Dysgerminoma |
OMIM:123500 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Severe short stature, Goiter |
OMIM:210740 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Posteriorly rotated ears, Hypospadias, Short stature, Cryptorchidism, Microti... |
OMIM:300712 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Postnatal growth retardation, Microtia, Short stature, Low-set ears |
OMIM:613320 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Paganini-Miozzo Syndrome |
|
Microtia, Posteriorly rotated ears, Low-set ears |
OMIM:301025 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... |
OMIM:180870 |
Neurofaciodigitorenal Syndrome |
|
Short stature, External ear malformation, Cryptorchidism, Abnormal antitragus morphology, Abnorma... |
ORPHA:2673 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Omodysplasia 2 |
|
Dyspareunia, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Uterus didelphys, Overfolded ... |
OMIM:164745 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... |
ORPHA:95715 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Abnormal auditory evoked potentials, Postnatal growth retardation, Cryptorchi... |
OMIM:193700 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Postnatal grow... |
ORPHA:94065 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Faundes-Banka Syndrome |
|
Premature thelarche, Cryptorchidism, Cupped ear, Microtia, Long ear, Low-set ears, Delayed pubert... |
OMIM:619376 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... |
ORPHA:968 |
Chromosome 17Q12 Deletion Syndrome |
|
Short stature, Cryptorchidism, Protruding ear, Ovarian cyst, Aplasia of the vagina, Bilateral sen... |
OMIM:614527 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Pan... |
OMIM:246200 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Umbilical hernia, Frontal cortical atrophy, Microtia |
OMIM:616977 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Absent tragus, Abnormal pinna morphology, Cryptorchid... |
OMIM:603457 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:129900 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Short stature, External e... |
ORPHA:857 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... |
ORPHA:54595 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serr... |
ORPHA:168549 |
Opitz-Kaveggia Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Sensorineural hearing impairment, Wide anterior fonta... |
OMIM:305450 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Cupped ear, Hypoplastic labia majora, Bicorn... |
OMIM:263650 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... |
ORPHA:52368 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Microtia, Ovarian serous cystadenoma |
ORPHA:276280 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Posteriorly rotated ears, Short stature, Sensorineural hearing impairme... |
OMIM:606164 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Postnatal growth retardation, Cryptorchidism, Optic atrophy,... |
ORPHA:90321 |
Barber-Say Syndrome |
|
Absent nipple, Extra concha fold, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia maj... |
OMIM:209885 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... |
OMIM:613388 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Primary amenorrhea, Bilateral breast hypoplasia, Severe postnatal growth retardati... |
ORPHA:319675 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... |
ORPHA:171929 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Micrognathia, Multiple prenatal fractures, Decreased f... |
OMIM:616897 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Isotretinoin Syndrome |
|
Spina bifida occulta, Microtia, Abnormality of the outer ear |
ORPHA:2305 |
Deafness, X-Linked 7 |
|
Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito... |
OMIM:301018 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:604292 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Cryptorchidism, Severe postnatal growth retardation, Microtia, Low-set ears, Intrauterine growth ... |
OMIM:620005 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Posteriorly rotated ears, Uplifted earlobe, Short stature, Cryptorchi... |
OMIM:616734 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Occipital encephalocele, Low-set ears, Aplasia of the uterus |
OMIM:619879 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... |
OMIM:269250 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Overfolding of the superior helices, Rectoperineal fistula, Hypospadias, Bifid ute... |
OMIM:107480 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Short stature, Cryptorchidism, Microti... |
ORPHA:163979 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Asymmetry of the ears, Postnatal growth retardation, Cryptorchidism, Optic atrophy... |
OMIM:614225 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... |
OMIM:618985 |
Odontochondrodysplasia |
|
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ... |
ORPHA:166272 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Macrotia, Microtia, Hearing impairment |
OMIM:620250 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Postnatal growth retardation, Congenital sensorineural hearing impairment, Sensori... |
ORPHA:73272 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Avascular necrosis of the ca... |
ORPHA:1901 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Short stature, Cryptorchidis... |
ORPHA:1606 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Low-set ears, Intr... |
ORPHA:2470 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short stature, Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing... |
OMIM:610536 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
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 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Microtia, Hypothalamic hamartoma, Cleft earlobe, Polymicrogyria, Hearing... |
OMIM:619775 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Postnatal growth retardation, Hypoplastic labia minora, Polymicrogyria, Optic atro... |
OMIM:614222 |
Tetraploidy |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the thymus, Hypoplasia of the ear cartilage |
ORPHA:3305 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
Waardenburg Syndrome |
|
Aganglionic megacolon, Myelomeningocele, Abnormality of the uterus, Conductive hearing impairment... |
ORPHA:3440 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Recurrent otitis media, Microtia, Posteriorly rotated ears |
OMIM:602562 |
Baraitser-Winter Syndrome 1 |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Sensorineural hearing impairment, Ov... |
OMIM:243310 |
Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Joint stiffness, Micrognathia, Abnormality of the humerus, Abnormal ti... |
ORPHA:2496 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preax... |
OMIM:617866 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Atresia of the external auditory canal, Conduct... |
ORPHA:1488 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of t... |
ORPHA:2306 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Achondroplasia |
|
Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx of finger, Wide a... |
ORPHA:15 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Microtia |
OMIM:168550 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ... |
OMIM:256050 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit... |
OMIM:224400 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hypospadias, Posteriorly rotated ears, Short stature, Cryptorchidism, Hydrocele testis, Growth de... |
OMIM:619522 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Microtia |
OMIM:248390 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Extern... |
ORPHA:2323 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter |
ORPHA:371428 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu... |
OMIM:255800 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel... |
ORPHA:2176 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Thickened helices, Conductive hearing impairment, Pachygyria, Hypothyroidism, Abnormal external g... |
OMIM:607872 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Adnp Syndrome |
|
Short stature, Cryptorchidism, Cerebral atrophy, Protruding ear, Microtia, Low-set ears, Umbilica... |
ORPHA:404448 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:133705 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short stature, Postnatal growth retardation, Microtia, Hypoplastic nipples, Low-set ears, Recurre... |
ORPHA:261323 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Hearing impa... |
ORPHA:245 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairment, Lipomyelomeningocele, Mic... |
OMIM:616580 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Protruding ear, Bilateral breast hypoplasia, Breast aplasia, H... |
ORPHA:69085 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Atresia of the external audi... |
OMIM:243180 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... |
ORPHA:63446 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Microtia, Abnormal parotid gland morphology, Atresia of the external auditory can... |
OMIM:154500 |
Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Hearing impairment |
OMIM:619981 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... |
OMIM:266810 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Chanarin-Dorfman Syndrome |
|
Sensorineural hearing impairment, Microtia |
OMIM:275630 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotension, Reduced c... |
ORPHA:95512 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Short stature, Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Low-se... |
OMIM:300707 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Wide anterior ... |
ORPHA:116 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Conductive hearing impairment, Sensorineural hearing impairment, Growth delay... |
OMIM:618500 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Short stature |
OMIM:300322 |
Thyroid Hypoplasia |
|
Growth delay, Hypothyroidism, Thyroid hypoplasia, Short stature |
ORPHA:95720 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Manitoba Oculotrichoanal Syndrome |
|
Vaginal atresia |
OMIM:248450 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Abnormal pinna morphology, Short stature, Precocious puberty, Cryptorchidism, Sensor... |
OMIM:194190 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... |
ORPHA:3206 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Seckel Syndrome 1 |
|
Abnormal pinna morphology, Hypospadias, Proportionate short stature, Postnatal growth retardation... |
OMIM:210600 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Tibial bowing, Congenital b... |
ORPHA:453510 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Branchiooculofacial Syndrome |
|
Hypospadias, Posteriorly rotated ears, Supernumerary nipple, Facial palsy, Postnatal growth retar... |
OMIM:113620 |
Hypertrichosis Cubiti |
|
Joint hyperflexibility, Rhizomelia, Micromelia |
ORPHA:2220 |
Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Limitation of joint mobility, O... |
ORPHA:2796 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormal pinna morphology, Short stature, Abnormality of the anterior pituitary, Posterior pituit... |
ORPHA:75389 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Short stature, Growth delay, Microtia, Atresia of the external auditory... |
OMIM:613309 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Abnormal pinna morphology, Short stature, Abnormal auditory evoked potentials... |
OMIM:216400 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... |
ORPHA:226313 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P... |
OMIM:211750 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Macrotia, Atresia of the external auditory canal |
OMIM:245552 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ... |
ORPHA:2878 |
Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Posteriorly rotated ears, Optic atrophy, Hypoplastic labia majora, At... |
OMIM:123790 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Cerebellar atrophy, Hydrocele testis, Large fleshy ears, Microtia, Prominent tragus, Overfolded h... |
ORPHA:280633 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Elbow contracture, 2-3 toe syndactyly, ... |
OMIM:618162 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impair... |
ORPHA:2363 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Cryptorchidism, Optic atrophy, Microtia, Chronic ... |
ORPHA:280 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
Chromosome 16P13.3 Duplication Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Protruding ear, Microtia, Low-set ears, Overfolded heli... |
OMIM:613458 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Se... |
OMIM:619518 |
Fraser Syndrome 2 |
|
Ambiguous genitalia, Hypoplasia of the thymus, Atresia of the external auditory canal, Low-set ears |
OMIM:617666 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Bilateral conductive hearing impairment, Atresia of the external auditory canal |
ORPHA:2010 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Short stature, Abnormal auditory evoked potentials, Sensor... |
OMIM:619260 |
Tarp Syndrome |
|
Posteriorly rotated ears, Optic atrophy, Prominent antihelix, Microtia, Low-set ears, Neonatal de... |
OMIM:311900 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Diabetes mellitus, Hyperthyroidism, Facial palsy, Goiter, Facial diplegia, Hy... |
ORPHA:254892 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hashimoto thyroiditis, Premature ovarian insufficiency, Short stature, Secondary amenorrhea, Low-... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hashimoto thyroiditis, Premature ovarian insufficiency, Short stature, Secondary amenorrhea, Low-... |
ORPHA:99228 |
Monosomy X |
|
Hashimoto thyroiditis, Premature ovarian insufficiency, Short stature, Secondary amenorrhea, Low-... |
ORPHA:99226 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Postnata... |
ORPHA:96184 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Turner Syndrome |
|
Hashimoto thyroiditis, Premature ovarian insufficiency, Short stature, Secondary amenorrhea, Low-... |
ORPHA:881 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Growth d... |
OMIM:613026 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolon, Abnormality of t... |
ORPHA:59315 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Elevated circulating parathyroid hormone level, Rickets |
OMIM:612089 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Cleft helix, External ear malformat... |
ORPHA:137888 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal pinna morphology, Abnormal cortical gyration, Bifid uterus, Anencephaly, Gr... |
OMIM:236680 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets |
OMIM:211600 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Mend Syndrome |
|
Short stature, Abnormal auditory evoked potentials, Cryptorchidism, Wide anterior fontanel, Low-s... |
ORPHA:401973 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Short stature, Hypsarrhythmia, Growth delay, Large earlobe, Microtia, Low-set ears |
OMIM:618076 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo... |
ORPHA:1842 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Bazex-Dupré-Christol Syndrome |
|
Macrotia, Hypoplasia of the ear cartilage |
ORPHA:113 |
Cardiospondylocarpofacial Syndrome |
|
Decreased testicular size, Posteriorly rotated ears, Short stature, Congenital sensorineural hear... |
OMIM:157800 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Short foot, C... |
ORPHA:474 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Myhre Syndrome |
|
Short stature, Cryptorchidism, Birth length less than 3rd percentile, Microtia, Low-set ears, Int... |
OMIM:139210 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Increased susceptibility to fractures, Decrease... |
OMIM:241500 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Hennekam-Beemer Syndrome |
|
Short stature, Optic atrophy, Microtia, Conductive hearing impairment, Hearing impairment |
ORPHA:2135 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:618160 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cortex |
OMIM:230600 |
Trichohepatoenteric Syndrome 1 |
|
Short stature, Hypospadias, Large placenta, Microtia, Low-set ears, Intrauterine growth retardation |
OMIM:222470 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Recon Progeroid Syndrome |
|
Attached earlobe, Microtia, Short stature, Growth delay |
OMIM:620370 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo... |
ORPHA:1798 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Bro... |
OMIM:612813 |
Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... |
ORPHA:525731 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex... |
OMIM:608257 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Recurrent otitis media, Conductive hearing impairment, Abno... |
ORPHA:244 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Ogden Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Cerebral atrophy, Low-set ears, Macrotia |
ORPHA:276432 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Posteriorly rotated ears, Septate vagina, Asymmetry of the ears, Anteverted ears, Cr... |
OMIM:300166 |
Mast Cell Sarcoma |
|
Hypoplasia of the ear cartilage |
ORPHA:66661 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Ablepharon-Macrostomia Syndrome |
|
Microtia, third degree, Hypoplastic labia majora, Hypoplastic nipples, Low-set ears, Ambiguous ge... |
OMIM:200110 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow... |
OMIM:108720 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Posteriorly rotated ears, Short stature, Cryptorchidism, Sensorineura... |
OMIM:309580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Gray matter heterotopia, ... |
OMIM:614643 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hearing abnormality, Microtia, Cupped ear, Intrauterine growth retardation |
ORPHA:1352 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Cupped ear, Microtia, Hearing impairment |
OMIM:620192 |
3Mc Syndrome |
|
Abnormal pinna morphology, Supernumerary nipple, Bilateral cryptorchidism, Postnatal growth retar... |
ORPHA:293843 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Sensorineural hearing impairment, Vertigo, Papillary ... |
OMIM:193300 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Limited elbow extensi... |
OMIM:602875 |
Cockayne Syndrome B |
|
Severe short stature, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Microtia, Short stature, Low-set ears |
OMIM:616723 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
Marden-Walker Syndrome |
|
Hypospadias, Postnatal growth retardation, Cryptorchidism, Wide anterior fontanel, Low-set ears, ... |
OMIM:248700 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Osteoglophonic Dysplasia |
|
Osteopenia, Pseudoarthrosis, Short metacarpal, Hypoplastic scapulae, Rhizomelia, Camptodactyly of... |
OMIM:166250 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Growth delay, Vaginal stricture, Stenosis of the external auditory canal |
ORPHA:79409 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Short stature, Cryptorchidis... |
ORPHA:199 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Micropenis, Penoscrotal hypospadias, Hypo... |
OMIM:270400 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Microtia |
OMIM:619817 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Cupped ear, Growth delay, Low... |
OMIM:263750 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, Flexion contrac... |
ORPHA:1865 |
Galloway-Mowat Syndrome |
|
Short stature, Macrotia, Abnormality of neuronal migration, EEG abnormality, Hypoplasia of the ea... |
ORPHA:2065 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Postnatal growth retardation, Microtia, Rhizo-meso-acromelic limb shortening, Disproportionate sh... |
OMIM:611717 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Disproportionate short sta... |
OMIM:276820 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Spina bifida, Cryptorchidism, Abnormality of the uterus, Low-set ears, Abnor... |
ORPHA:99776 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f... |
ORPHA:488434 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa... |
OMIM:271510 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del... |
ORPHA:1652 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Central adrenal insufficiency, Small pituitary glan... |
OMIM:612079 |
Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Sensorineura... |
ORPHA:581 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Rhizo... |
ORPHA:763 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Adrenal cal... |
ORPHA:51608 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Kagami-Ogata Syndrome |
|
Microtia |
OMIM:608149 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Cupped ear, Microtia, Hearing impairment |
OMIM:620193 |
Coffin-Siris Syndrome 1 |
|
Abnormal pinna morphology, Hypospadias, Posteriorly rotated ears, Short stature, Postnatal growth... |
OMIM:135900 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Limb undergrowth, Shor... |
OMIM:225410 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna |
ORPHA:2491 |
Gaucher Disease, Perinatal Lethal |
|
Neonatal death, Intrauterine growth retardation, Microtia, Low-set ears |
OMIM:608013 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing of toes, Brachydactyly |
ORPHA:1318 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Hearing impairment |
OMIM:166220 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Pr... |
ORPHA:398079 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreati... |
ORPHA:892 |
Acrofacial Dysostosis 1, Nager Type |
|
Posteriorly rotated ears, Aganglionic megacolon, Short stature, Bicornuate uterus, Atresia of the... |
OMIM:154400 |
Craniosynostosis And Dental Anomalies |
|
Stapes ankylosis, Papilledema, Short stature, Absent malleus, Conductive hearing impairment, Chro... |
OMIM:614188 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Microtia, Short stature, Low-set ears |
OMIM:277380 |
Scalp-Ear-Nipple Syndrome |
|
Posteriorly rotated ears, Short stature, Underdeveloped antitragus, Anteverted ears, Cupped ear, ... |
OMIM:181270 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Cryptorchidism, Disproportionate short stature, Microlissencephaly, G... |
OMIM:210710 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Short stature, Abnormal auditory evoked potentials |
OMIM:109120 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Posteriorly rotated ears, Hypospadias, Small pituitary gland, Low-set ears, Disproportionate shor... |
OMIM:619479 |
Humeroradial Synostosis |
|
Small earlobe, Microtia |
OMIM:236400 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Posteriorly rotated ears, External genital hypoplasia, Short stature, Postnatal growth retardatio... |
ORPHA:96334 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... |
ORPHA:2769 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Posteriorly rotated ears, Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, L... |
OMIM:264480 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ea... |
ORPHA:649 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Recurrent otitis media, Pachygyria, Abnormal Eustachian tube morphology, Pineal cyst |
ORPHA:513456 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min... |
OMIM:616507 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Hall-Riggs Syndrome |
|
Joint stiffness, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology,... |
ORPHA:2107 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Joint contracture, Limb undergrowth, Hip dislocation |
OMIM:618005 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Treacher Collins Syndrome 2 |
|
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia |
OMIM:613717 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Prominent inferior crus of antihelix, Cryptorchidism, Protruding ear, Low-set ears, Um... |
OMIM:618332 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b... |
ORPHA:221016 |
Thalidomide Embryopathy |
|
Anotia, Abnormality of the outer ear, Short stature, Hearing impairment |
ORPHA:3312 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Microtia |
OMIM:243440 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dy... |
ORPHA:2655 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... |
ORPHA:3258 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Low-set, posteriorly rotated ears, Hypospadias, Short stature, Postnatal grow... |
ORPHA:235 |
Scalp-Ear-Nipple Syndrome |
|
Underdeveloped antitragus, Abnormal antihelix morphology, Microtia, Breast aplasia, Type I diabet... |
ORPHA:2036 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
Leukocyte Adhesion Deficiency Type Ii |
|
Short stature, Cerebral atrophy, Microtia, Recurrent otitis media, Conductive hearing impairment,... |
ORPHA:99843 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Vertigo, Small pituitary gland, Severe sensorineura... |
OMIM:614195 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Chronic otitis media, Umbilical hernia, Abnormal Eustachian tube m... |
ORPHA:199302 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology |
OMIM:614886 |
Acrofacial Dysostosis, Cincinnati Type |
|
Macrotia, Anotia, Short stature, Microtia |
OMIM:616462 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology |
ORPHA:2123 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of th... |
ORPHA:2909 |
Aspartylglucosaminuria |
|
Macroorchidism, Umbilical hernia, Microtia, Chronic otitis media |
ORPHA:93 |
Mycophenolate Mofetil Embryopathy |
|
Atresia of the external auditory canal, Anotia, Microtia, Hearing impairment |
ORPHA:268249 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella... |
ORPHA:221008 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Microretrognathia, Monkey wrench femoral neck, Micromelia, 2-3 toe syndactyly, Flat... |
OMIM:618870 |
Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Cochlear malformation, Growth del... |
ORPHA:2044 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Short stature, Microtia, Low-set ears, Prominent antitragus |
OMIM:245600 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Pelviscapular Dysplasia |
|
Short femur, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Fanconi Anemia |
|
Hypospadias, Aganglionic megacolon, Abnormal testis morphology, Abnormal preputium morphology, Ex... |
ORPHA:84 |
Down Syndrome |
|
Aganglionic megacolon, Short stature, Microtia, Conductive hearing impairment, Hypothyroidism |
OMIM:190685 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Diamond-Blackfan Anemia 11 |
|
Stenosis of the external auditory canal, Short stature, Atresia of the external auditory canal |
OMIM:614900 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... |
ORPHA:96191 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Cryptorchidism, Hypoplasia of the ear cartilage... |
ORPHA:1308 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
Diamond-Blackfan Anemia 7 |
|
Growth delay, Atresia of the external auditory canal, Recurrent otitis media, Intrauterine growth... |
OMIM:612562 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypospadias, Posteriorly rotated ears, Short stature, Postnatal growth retardation... |
OMIM:257300 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Pheochromocytoma, Elevated circulating calcitonin concentration, Nod... |
ORPHA:1332 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Small hand, Cone-shaped... |
ORPHA:3121 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Aganglionic megacolon, Thyroid C cell hyperpla... |
ORPHA:653 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Bloom Syndrome |
|
Decreased fertility in females, Postnatal growth retardation, Cryptorchidism, Protruding ear, Gro... |
OMIM:210900 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Micromelia, Bowing of the legs,... |
OMIM:610682 |
Osteopathia Striata With Cranial Sclerosis |
|
Posteriorly rotated ears, Facial palsy, Short stature, Microtia, Low-set ears, Conductive hearing... |
OMIM:300373 |
Image Syndrome |
|
Metaphyseal dysplasia, Micromelia |
ORPHA:85173 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mild postnatal growth retardation, Cerebral arteriovenous malformation, Bilateral cryptorchidism,... |
OMIM:150230 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Diamond-Blackfan Anemia |
|
Short stature, Hypospadias, Growth delay, Microtia, Low-set ears |
ORPHA:124 |
Prune Belly Syndrome |
|
Cryptorchidism, Decreased fertility, Abnormality of the uterus, Decreased testicular size, Urogen... |
ORPHA:2970 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Bic... |
OMIM:181450 |
Doors Syndrome |
|
Adrenal hyperplasia, Optic atrophy, Spina bifida occulta, Congenital hypothyroidism, Sirenomelia,... |
ORPHA:79500 |
Floating-Harbor Syndrome |
|
Hypospadias, Posteriorly rotated ears, Short stature, Cryptorchidism, Glandular hypospadias, Recu... |
OMIM:136140 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Small scrotum, Short stature, External genital hypoplasia, Precocious puberty... |
ORPHA:398069 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, O... |
OMIM:206900 |
Holoprosencephaly 9 |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:610829 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Micrognathia, Aplasia/H... |
ORPHA:2710 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Posteriorly rotated ea... |
OMIM:619476 |
Cartilage-Hair Hypoplasia |
|
Short palm, Metaphyseal dysplasia, Abnormally ossified vertebrae, Bowing of the long bones, Rhizo... |
ORPHA:175 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hearing impairment |
OMIM:227650 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphysis morphology,... |
ORPHA:93274 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Chronic otitis media, Male infertility |
OMIM:300991 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Microtia-Anotia |
|
Anotia, Microtia |
OMIM:600674 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Protruding ear, Gray matter heteroto... |
OMIM:618820 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology, Facial palsy |
ORPHA:643 |
Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Thyroid Ectopia |
|
Short stature, Abnormality of the thyroid gland, Growth delay, Ectopic thyroid, Hypothyroidism |
ORPHA:95712 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Short palm, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterio... |
OMIM:249420 |
Kagami-Ogata Syndrome |
|
Postnatal growth retardation, Large placenta, Microtia |
ORPHA:254519 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia |
OMIM:273680 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Large earlobe, Supernumerary nipple, Hypoplasia of the ear cartilage |
ORPHA:1236 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Hypospadias, Cryptorchidism, Abnormality of neuronal migration, Protruding ear... |
ORPHA:464311 |
Periventricular Nodular Heterotopia 9 |
|
Posteriorly rotated ears, Periventricular nodular heterotopia, Gray matter heterotopia, Microtia,... |
OMIM:618918 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retar... |
OMIM:616263 |
Waardenburg Syndrome, Type 1 |
|
Congenital sensorineural hearing impairment, Myelomeningocele, Aplasia of the vagina, Spina bifida |
OMIM:193500 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hy... |
OMIM:608594 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Partial duplication of the pha... |
OMIM:616331 |
Leprechaunism |
|
Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, Labial hypertro... |
ORPHA:508 |
Slc39A8-Cdg |
|
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... |
ORPHA:468699 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Papilledema, Short stature, Decreased nerve conduction velocity, Sensorineural hear... |
ORPHA:580 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... |
ORPHA:529799 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Mixed hearing impairment, Post... |
OMIM:620305 |
Ayme-Gripp Syndrome |
|
Posteriorly rotated ears, Short stature, Sensorineural hearing impairment, Cerebral atrophy, Micr... |
OMIM:601088 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hyperinsulinemia, Dec... |
OMIM:269700 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Short stature, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Ur... |
ORPHA:2473 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hypospadias, Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Papillar... |
ORPHA:93111 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Vaginal hernia, Sensorineural hearing impairment, Conductive h... |
ORPHA:96129 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Short stature, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholo... |
ORPHA:314621 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Craniosynostosis, Limited elbow movement, Micrognathia, Hypoplasia of the odont... |
ORPHA:508533 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of... |
OMIM:271665 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Flexion contracture |
ORPHA:79243 |
3M Syndrome |
|
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Hypoplastic p... |
ORPHA:2616 |
Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Absent outer dynein arms, Chronic otitis media, Male infertility |
OMIM:612444 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Erectile dysfunction, EEG abnormality |
ORPHA:206448 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the uterus, Conductive hearing impairment, Chronic otiti... |
ORPHA:567 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... |
ORPHA:2671 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypospadias, Short stature, Septate vagina, Urethrovaginal fistula, Cryptorchi... |
OMIM:243800 |
Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Short stature, Postnatal growth retard... |
ORPHA:1596 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Papilledema, Short stature, Sensorineural hearing impairment, Optic atrophy, Growth... |
ORPHA:217085 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... |
OMIM:309583 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ... |
OMIM:241800 |
Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Papilledema, Short stature, Sensorineural hearing impairment, Optic atrophy, Growth... |
ORPHA:217093 |
Marshall-Smith Syndrome |
|
Short stature, Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Cerebral atrophy... |
OMIM:602535 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Joint stiffness, Abnormal diaphysis morphology, Abnormal epiphysis morph... |
ORPHA:354 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Micromelia, Camptodactyly |
OMIM:610015 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Spina bifida, Bifid uterus, Cryptorchidism, Stillbirth, Lissencephaly, Short umb... |
OMIM:256520 |
Yunis-Varon Syndrome |
|
Absent nipple, Hypospadias, Small earlobe, Cryptorchidism, Sensorineural hearing impairment, Cupp... |
OMIM:216340 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... |
OMIM:277600 |
Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge... |
ORPHA:1784 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Short st... |
ORPHA:268261 |
Turnpenny-Fry Syndrome |
|
Wide anterior fontanel, Microtia, Low-set ears, Conductive hearing impairment, Mild short stature... |
OMIM:618371 |
Pfeiffer Syndrome Type 2 |
|
Atresia of the external auditory canal, Low-set ears |
ORPHA:93259 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... |
OMIM:605822 |
Dpm1-Cdg |
|
Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Long hallux |
ORPHA:79322 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... |
ORPHA:206436 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Postnatal growth retardation, Hypoplastic labia minora, Splenopancrea... |
OMIM:269150 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Short stature, Spina bifida, Myelomeningocele, Meningocele, Atresia of the exter... |
ORPHA:1393 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Large p... |
OMIM:249000 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Posteriorly rotated ears, Supernumerary nipple, Mesomelic/rhizomelic ... |
OMIM:601803 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... |
OMIM:171400 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Mixed hearing impairment, Absence of Stensen duct, Hearing impairment, Coronal hypospadias, Cuppe... |
OMIM:149730 |
Roberts Syndrome |
|
External ear malformation, Cryptorchidism, Postnatal growth retardation, Long penis, Severe intra... |
ORPHA:3103 |
Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Growth del... |
ORPHA:125 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol... |
ORPHA:666 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Supernumerary nipple, Pachygyria, Polymicrogyria, Imperforate hymen |
OMIM:100300 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Posteriorly rotated ears, Optic nerve hypoplasia, Postnatal growth retardation, Lo... |
OMIM:605627 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Senso... |
OMIM:163950 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino... |
OMIM:618529 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Small hand, Short foot, Short palm |
ORPHA:238750 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal diaph... |
ORPHA:2021 |
Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears, Hypoplasia of the... |
OMIM:618175 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Multiple Endocrine Neoplasia, Type Iib |
|
Aganglionic megacolon, Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyro... |
OMIM:162300 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... |
OMIM:617809 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Recurrent o... |
OMIM:614874 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Microtia |
ORPHA:158684 |
Kabuki Syndrome 1 |
|
Posteriorly rotated ears, Short stature, Premature thelarche, Postnatal growth retardation, Crypt... |
OMIM:147920 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Microtia, Low-set ears, Hearing impairment |
OMIM:301043 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Abnormality of neuronal migration, Atresia of the external auditory canal, Ab... |
ORPHA:3186 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Decreased fertility, Breast aplasia, Hypoplas... |
ORPHA:3138 |
Pagod Syndrome |
|
Encephalocele, Short stature, Spina bifida, Meningocele, Optic atrophy, Agonadism, Abnormality of... |
ORPHA:991 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Broad metatarsal, Elbow flexion contracture, Short metatarsal,... |
OMIM:608328 |
Desmosterolosis |
|
Increased bone mineral density, Micromelia, Micrognathia, Metatarsus adductus, Osteopetrosis |
ORPHA:35107 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Osteoporosis, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Cl... |
ORPHA:488632 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Fixed Drug Eruption |
|
Vaginal mucosal ulceration |
ORPHA:293812 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hypothyroidism, Lingual thyroid |
OMIM:606519 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Uplifted earlobe, Conductive hearing impairment, Webbed penis, Micropenis, Hypospa... |
ORPHA:2152 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Short stature, Spina bifida, Aplasia of the uterus |
OMIM:274000 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... |
ORPHA:3404 |
Phace Syndrome |
|
Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid, Cerebral arteriovenous malformation |
ORPHA:42775 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal... |
OMIM:259775 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Abnormal vagina morphology |
ORPHA:1334 |
Dyschondrosteosis-Nephritis Syndrome |
|
Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia |
ORPHA:1765 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Growth delay, Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia |
ORPHA:3240 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Rhizomelia, Postnatal growth retardation, Temporal cortical at... |
ORPHA:263508 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Hypospadias, Posteriorly rotated ears, Septate vagina, Uplifted earlobe, Aganglion... |
ORPHA:261537 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Maternal diabetes, Posterior pituitary agenesis, Low-set ears, Hyp... |
ORPHA:563612 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Arthritis, Limb undergrowth, Juvenil... |
ORPHA:1855 |
Camptobrachydactyly |
|
Septate vagina |
OMIM:114150 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Rhizomelia, Microtia, Short stature, Hearing impairment |
OMIM:143095 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, A... |
ORPHA:800 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets |
OMIM:212750 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Male infertility |
OMIM:618948 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... |
ORPHA:733 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Coxa vara, Joint hyperflexibility, Narrow pelvis bone, Abnormal epiphysis morphology,... |
ORPHA:2637 |
Saethre-Chotzen Syndrome |
|
Short stature, Prominent crus of helix, Microtia, Low-set ears, Hearing impairment |
OMIM:101400 |
Becker Nevus Syndrome |
|
Abnormal tibia morphology, Spina bifida occulta, Micromelia |
ORPHA:64755 |
Kinsship Syndrome |
|
Osteopenia, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Mesomelia... |
OMIM:619297 |
Isolated Arrhinia |
|
Microtia |
ORPHA:1134 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Patent urachus, ... |
OMIM:618280 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Short stature, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolap... |
OMIM:130050 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Meacham Syndrome |
|
Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Stillbirth, Neonatal... |
OMIM:608978 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Hypospadias, Posteriorly rotated ears, Septate vagina, Uplifted earlobe, Aganglion... |
ORPHA:261552 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Biliary hyperplasia, Cryptorchidism, Postnatal growth retardation, Low-... |
ORPHA:83617 |
Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Abnormal cortical gyration, Cerebral cortical atrophy |
ORPHA:314647 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus |
OMIM:224410 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Absent outer dynein arms, Chronic otitis media, Male infertility |
OMIM:244400 |
Chand Syndrome |
|
Imperforate hymen |
ORPHA:1401 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent otitis media, Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Posteriorly rotated ears, Short stature, Protruding ear, Hippocampal atrophy, Low-set ... |
OMIM:614756 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Abnormal circulating calcium-phosphate regulating hormone concentration, Microm... |
ORPHA:50810 |
Okamoto Syndrome |
|
Bifid uterus, Severe postnatal growth retardation, Abnormal helix morphology, Low-set ears, Macrotia |
ORPHA:2729 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia |
ORPHA:79107 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Limb undergrowth, Flexion contracture, Talipes equinovarus |
OMIM:619124 |
Sotos Syndrome |
|
Hypospadias, Aganglionic megacolon, Phimosis, Cryptorchidism, Decreased fertility, Cerebral atrop... |
ORPHA:821 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia |
ORPHA:1908 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Acrocephalopolydactylous Dysplasia |
|
Postaxial hand polydactyly, Craniosynostosis, Micromelia |
OMIM:200995 |
Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Orchitis, Abnormalit... |
ORPHA:449563 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short toe, Short foot, Short long bone, Short ribs, Sho... |
OMIM:269860 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... |
OMIM:612651 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility |
OMIM:620197 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Short stature, Abnormality of the endocrine system, Cryptorchidism, Precocious... |
ORPHA:438213 |
Liver Disease, Severe Congenital |
|
Hypospadias, Biliary hyperplasia, Abnormal circulating thyroid hormone concentration, Hydrocele t... |
OMIM:619991 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Posteriorly rotated ears, Abnormal pinna morphology, Postnata... |
OMIM:268300 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Mesomelia |
OMIM:616482 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Sensorineural hearing impairment, Branchial anomaly, Anotia, Microtia, A... |
OMIM:164210 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, Abnormal sal... |
ORPHA:79078 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Rickets, Hip dislocation, Genu valgum, Finger swelling, Pa... |
OMIM:309000 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex |
OMIM:613658 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Brachydactyly |
OMIM:614800 |
Currarino Syndrome |
|
Neurogenic bladder, Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Primary Sjögren Syndrome |
|
Vaginal dryness, Thyroiditis, Parotitis, Abnormality of the peripheral nervous system |
ORPHA:289390 |
Schisis Association |
|
Micromelia |
ORPHA:63862 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Oeis Complex |
|
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... |
OMIM:258040 |
Autoimmune Polyendocrinopathy Type 3 |
|
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Thy... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
|
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Anterior pituitary dysgenesis, Thy... |
ORPHA:227990 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Micrognathia, Proximal placement of thumb, Hypoplasia of the radius, Elbow flexion co... |
OMIM:122470 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia |
OMIM:300952 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Micrognathia, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad ... |
OMIM:616894 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Toxic Epidermal Necrolysis |
|
Abnormal vagina morphology |
ORPHA:537 |
Hydrolethalus |
|
Postaxial hand polydactyly, Micromelia, Micrognathia |
ORPHA:2189 |
Wilson Disease |
|
Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility |
OMIM:277900 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Recurrent otitis media, Male infertility |
OMIM:619607 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Wide ... |
OMIM:180700 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial... |
ORPHA:93271 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent fractures, Osteomalacia, Joint stiffness, Micrognathia, Hip dislocation, Genu valgum, J... |
ORPHA:534 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Camptodactyly of finger, ... |
ORPHA:1507 |
Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Genu valgum, Abnormal pelvic girdle bone morphology, Hand pol... |
ORPHA:289 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the th... |
ORPHA:97360 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Short stature, Cryptorchidism, Vertigo, Cystocele, Aplasia/Hypoplasia of the earlobe... |
ORPHA:286 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Postaxial hand polydactyly,... |
OMIM:613610 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Hypoplasia of the radius, Short palm, Brachydactyly |
ORPHA:3015 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Clinodactyly |
OMIM:616541 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Spina bifida, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal tra... |
ORPHA:322 |
Immunodeficiency 82 With Systemic Inflammation |
|
Recurrent otitis media, Anoperineal fistula, Cholesteatoma |
OMIM:619381 |
Athyreosis |
|
Growth delay, Hypothyroidism, Short stature, Thyroid agenesis |
ORPHA:95713 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Metaphyseal widening, Rickets, Genu valgum |
OMIM:219800 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Mesomelia, Elevated circulating thyroid-stimulating hormone concentration, Hip subluxation, Micro... |
OMIM:613457 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Coxa valga, Avascular necro... |
ORPHA:3107 |
8Q24.3 Microdeletion Syndrome |
|
Joint laxity, Microretrognathia, Long toe, Short femur, Congenital hip dislocation, Rocker bottom... |
ORPHA:508488 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Abnormality of the anterior pituitary, Prostatitis, Thyroiditis |
ORPHA:449395 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Postaxial hand polydact... |
ORPHA:818 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs |
OMIM:616546 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca |
ORPHA:1112 |
Chronic Graft Versus Host Disease |
|
Abnormal vagina morphology, Phimosis |
ORPHA:99921 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Vaginal stricture, Vaginal dryness |
ORPHA:95455 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, Micromelia |
ORPHA:1675 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |