46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
46,Xy Sex Reversal 9 |
|
Sex reversal, Ambiguous genitalia, Gonadal dysgenesis, Fused labia minora |
OMIM:616067 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism |
OMIM:614279 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
46,Xy Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Micropenis, Bifid scrotum, Abnorm... |
ORPHA:325345 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... |
OMIM:616425 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
46,Xy Sex Reversal 5 |
|
Sex reversal |
OMIM:613080 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... |
OMIM:615542 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Caudal Duplication |
|
Vertebral segmentation defect, Myelomeningocele, Abnormal penis morphology, Uterus didelphys, Bif... |
ORPHA:1756 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Pectus carinatum,... |
OMIM:184255 |
Pseudodiastrophic Dysplasia |
|
Platyspondyly, Scoliosis, Phalangeal dislocation, Omphalocele, Elbow dislocation |
ORPHA:85174 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropr... |
ORPHA:98798 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Omphalocele, Abnormality of neurona... |
ORPHA:945 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Sex reversal, Hypospadias, Ovotestis, Oligohydramnios, Adrenal gland agenesis |
OMIM:611812 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... |
OMIM:609813 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus, Hydrocephalus, Death in infancy, Omphalocele |
OMIM:258320 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genitalia, Clitoral hypertrophy, D... |
OMIM:610644 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... |
ORPHA:64754 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Myelomeningocele, Hemivertebrae, Spina bifida occulta,... |
OMIM:613686 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Male pseudohermaphroditism, Elevated circulating luteinizing hormone level, Abnorma... |
OMIM:400044 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... |
ORPHA:93304 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Abnormally ossified vertebrae, Apla... |
ORPHA:1263 |
46,Xy Sex Reversal 6 |
|
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma |
OMIM:613762 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... |
ORPHA:2345 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Holoprosencephaly, Scoliosis, Anterior encephalocele, Omphalocele, Foot oligodactyly |
OMIM:601357 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... |
ORPHA:163665 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... |
OMIM:614135 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Lipoma, Anencephaly, Multiple lipomas, Spina bifida occulta, Abs... |
OMIM:182940 |
Trigonocephaly 1 |
|
Lumbar hemivertebrae, Long penis, Omphalocele, Craniosynostosis |
OMIM:190440 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Missing... |
ORPHA:1801 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Hypoplasia of penis, Ambiguous genitalia, male, Bifid scrotum, Ambiguou... |
ORPHA:753 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Occipital encephalocele |
OMIM:614209 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... |
ORPHA:261529 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Scoliosis, Brachydactyly, Abnormal form ... |
ORPHA:40 |
Isolated Hemihyperplasia |
|
Myelomeningocele, Cryptorchidism, Scoliosis, Inguinal hernia |
ORPHA:2128 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Cam... |
ORPHA:2635 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Short palm, Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Joint contracture of the hand, Inguinal hernia, Camptodactyly |
OMIM:211960 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Congenital diaphragmatic hernia, Anencephaly, Sirenomeli... |
ORPHA:63260 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Short neck, Abnormal rib morphology, Ambiguous genitalia, Abnormal epiphysis morph... |
ORPHA:93267 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly, Gastroschisis |
ORPHA:2476 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal ... |
ORPHA:1354 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... |
ORPHA:1570 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax |
ORPHA:93302 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent... |
ORPHA:66637 |
Schisis Association |
|
Congenital diaphragmatic hernia, Anencephaly, Omphalocele, Encephalocele, Spina bifida |
ORPHA:63862 |
Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Lissencephaly, Sacral dimple, Omphalocele |
ORPHA:531 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosencephaly, Anencephaly,... |
ORPHA:63259 |
Serkal Syndrome |
|
Abnormal penis morphology, Sex reversal, Oligohydramnios, Hypospadias |
ORPHA:139466 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Abnormal rib mo... |
ORPHA:3035 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hydrocephalus, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hy... |
OMIM:309801 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous ... |
ORPHA:752 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Hip osteoarthritis, He... |
OMIM:604864 |
Spondylometaphyseal Dysplasia, Axial |
|
Coxa vara, Narrow greater sciatic notch, Reduced sperm motility, Platyspondyly, Scoliosis, Short ... |
OMIM:602271 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus, Tibial bowing, Short lower limbs, Omphalocele, Lower limb undergrowth |
OMIM:236640 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Short distal phalanx of finger, Congenital diaphragmatic hernia, S... |
ORPHA:1120 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, ... |
OMIM:201000 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Ambiguous genitalia, male, Micropenis, Bifid scrotum, Cryptorchidism, Perineal hypospadias |
OMIM:264600 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Hydrocephalus, Congenital diaphragmatic hernia, Short neck, Scolio... |
ORPHA:1834 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Vacterl/Vater Association |
|
Vertebral segmentation defect, Congenital diaphragmatic hernia, Finger syndactyly, Hypoplasia of ... |
ORPHA:887 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Sex reversal, Adrenocorticotropic hormone excess |
OMIM:613743 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Inguinal hernia |
OMIM:261550 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Fibrochondrogenesis 1 |
|
Platyspondyly, Short neck, Omphalocele, Dumbbell-shaped long bone, Posterior rib cupping, Short l... |
OMIM:228520 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... |
ORPHA:957 |
46,Xx Sex Reversal 4 |
|
Ambiguous genitalia, Penoscrotal hypospadias, Clitoral hypertrophy, Micropenis |
OMIM:617480 |
Meckel Syndrome, Type 2 |
|
Anencephaly, Polydactyly, Postaxial hand polydactyly, Omphalocele, Meningocele, Bowing of the lon... |
OMIM:603194 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Prune belly, Thoracolumbar scoliosis, Cervical ribs, Omphalocele, Urethral obstruction, Preaxial ... |
OMIM:601389 |
Kennerknecht syndrome |
|
Hypoplasia of the uterus, Toe clinodactyly, Agonadism, Short neck, Thoracolumbar scoliosis, Ompha... |
OMIM:600908 |
Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Hydrocephalus, Lumbar hyperlordosis, Aplasia/Hypoplasia of the fibula, Ca... |
ORPHA:2839 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis |
OMIM:604919 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Upper lim... |
ORPHA:93351 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Congenital diaphragmatic hernia, Inguinal he... |
ORPHA:2311 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Lumbar Syndrome |
|
Myelomeningocele, Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryp... |
ORPHA:83628 |
Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly, Congenital hip ... |
OMIM:304120 |
Triploidy |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Short neck, Ambiguous genital... |
ORPHA:3376 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Ectrodactyly, Hydrocephalus, Split foot, 2-3 finger syndactyly, Spina bifida oc... |
ORPHA:2437 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Cloacal Exstrophy |
|
Myelomeningocele, Abnormality of the clitoris, Cloacal exstrophy, Hypoplasia of penis, Hemiverteb... |
ORPHA:93929 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Congenital diaphragmatic hernia, Hypospadias, Anencephaly, Scoliosis, Abnormality ... |
ORPHA:1335 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Advanced ossification of carpal bones, Kyphoscoliosis, Knee disloc... |
OMIM:618363 |
Omphalocele, Autosomal |
|
Inguinal hernia, Omphalocele |
OMIM:164750 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, B... |
ORPHA:474 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Short toe, Camptodactyly of finger, Brachydactyly, Abnormal form ... |
ORPHA:1327 |
Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... |
ORPHA:168549 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... |
OMIM:151210 |
Distal Trisomy 15Q |
|
Arachnodactyly, Camptodactyly of finger, Short neck, Abnormality of female external genitalia, Om... |
ORPHA:1707 |
Spondylosis, Cervical |
|
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis |
OMIM:184300 |
Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Sandal gap, Omphalocele, Delayed closure of the anterior font... |
OMIM:311300 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Wormian bones, Pectus carinatum, Short lowe... |
OMIM:259440 |
Hemihyperplasia, Isolated |
|
Myelomeningocele, Scoliosis |
OMIM:235000 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... |
ORPHA:239 |
Sirenomelia |
|
Ambiguous genitalia, Spina bifida, Sirenomelia |
ORPHA:3169 |
Endocrine-Cerebroosteodysplasia |
|
Sex reversal, Hydrocephalus, Micropenis, Holoprosencephaly, Hypospadias, Ambiguous genitalia, Cry... |
OMIM:612651 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Split... |
OMIM:183802 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Male pseudohermaphroditism, Cervical spina bifida |
OMIM:600122 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Inguinal hernia, Scoliosis, Umbilical hernia |
OMIM:617174 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... |
OMIM:615633 |
Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Spina bifida, Deviation of finger |
ORPHA:1104 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Pseudotrisomy 13 Syndrome |
|
Hydrocephalus, 2-3 toe syndactyly, Cryptorchidism, Bicornuate uterus, Holoprosencephaly, Micropen... |
OMIM:264480 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the ... |
ORPHA:1149 |
Fountain Syndrome |
|
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Scoliosis, Abnormal form of the ... |
ORPHA:3219 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Otopalatodigital Syndrome Type 2 |
|
Hydrocephalus, Omphalocele, Bowing of the long bones, Encephalocele, Elbow dislocation, Carpal sy... |
ORPHA:90652 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Encephalocele, Bifid scrotum, Delayed cranial suture closure, Broad hallux pha... |
ORPHA:2211 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology, Hydrocephalus |
OMIM:300864 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Brachydactyly,... |
ORPHA:429 |
Aplasia Cutis Congenita |
|
Spinal dysraphism, Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
Oeis Complex |
|
Hydrocephalus, Labial hypoplasia, Tethered cord, Ambiguous genitalia, female, Hemivertebrae, Bifi... |
OMIM:258040 |
Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Beaking of vertebral ... |
OMIM:607326 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Syndactyly, ... |
OMIM:601163 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Cryptorchidism, Hypospadias |
OMIM:616489 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Inguinal hernia, Hypoplasia of the radius, Hemivertebrae, Abn... |
ORPHA:3412 |
Pagod Syndrome |
|
Congenital diaphragmatic hernia, Agonadism, Abnormal rib morphology, Ambiguous genitalia, Abnorma... |
ORPHA:991 |
Constricting Bands, Congenital |
|
Scoliosis, Syndactyly, Bladder exstrophy, Omphalocele, Hand polydactyly, Encephalocele, Gastrosch... |
OMIM:217100 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Fused thoracic vertebrae, Holoprosencephaly, Small hand, Scoliosis, Synd... |
ORPHA:1445 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Umbilical hernia, Omphalocele |
OMIM:275100 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
Fetal Encasement Syndrome |
|
Lower limb undergrowth, Upper limb undergrowth, Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
Trisomy 20P |
|
Vertebral segmentation defect, Kyphosis, Finger syndactyly, Inguinal hernia, Abnormal hip bone mo... |
ORPHA:261318 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Hypoplastic ilia, Flared met... |
ORPHA:93359 |
Fibrochondrogenesis |
|
Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of the vertebral bo... |
ORPHA:2021 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Syringomyelia, Spina bifida, Cervical m... |
OMIM:207950 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Ambiguous genitalia |
OMIM:250790 |
Focal Dermal Hypoplasia |
|
Hypoplastic pelvis, Abnormal epiphysis morphology, Umbilical hernia, Omphalocele, Diastasis recti... |
ORPHA:2092 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Hypergonadotropic hypogonadism, Short neck, Cubitus valgus, Short 4th metacarpal, ... |
ORPHA:2183 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Hydrocephalus, Short toe, Inguinal hernia, Holoprosencephaly, Short ribs, Sho... |
OMIM:269860 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Azoospermia |
OMIM:615703 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... |
ORPHA:168558 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h... |
OMIM:269250 |
Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Spina bifida ... |
ORPHA:64755 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Inguinal hernia, Flexion contracture, Adducted thumb, Camptodactyly, Distal arthr... |
OMIM:618011 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, Down-sl... |
ORPHA:392 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... |
ORPHA:289548 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Diabetic Embryopathy |
|
Vertebral segmentation defect, Hydrocephalus, Micropenis, Aplasia/Hypoplasia of the abdominal wal... |
ORPHA:1926 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Narrow greater sciatic notch, Bicornuate ut... |
OMIM:263210 |
Acrofacial Dysostosis, Palagonia Type |
|
Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Cutan... |
OMIM:601829 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Hammertoe, Abn... |
ORPHA:2319 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal cupping, Thin ribs, Platysp... |
OMIM:300863 |
Diastrophic Dysplasia |
|
Kyphosis, Hypoplastic cervical vertebrae, Joint dislocation, Abnormal clavicle morphology, Campto... |
ORPHA:628 |
Nail-Patella Syndrome |
|
Hypoplasia of first ribs, Antecubital pterygium, Lumbar hyperlordosis, Back pain, Clinodactyly of... |
OMIM:161200 |
Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Short sternum |
OMIM:184800 |
Mayer-Rokitansky-KĂŒster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Short neck, Vertebral segmentation defect |
ORPHA:2578 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Congenital Vertical Talus |
|
Myelomeningocele, Equinus calcaneus, Rocker bottom foot, Distal arthrogryposis, Lower extremity j... |
ORPHA:178382 |
Neu-Laxova Syndrome 2 |
|
Short neck, Scoliosis, Lissencephaly, Rocker bottom foot, Spina bifida, Finger syndactyly, Toe sy... |
OMIM:616038 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus, Congenital diaphragmatic hernia, Abnormality of the uterus, Umbilical hernia, ... |
ORPHA:2143 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Kyphosis, Posterior rib gap, Clinodactyly of the 5th finger, Hydranencephaly, D... |
ORPHA:1393 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Wormian bones, Omphalocele |
OMIM:614450 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Amish Lethal Microcephaly |
|
Lissencephaly, Death in infancy, Spina bifida |
ORPHA:99742 |
Trisomy 1Q |
|
Hydrocephalus, Congenital diaphragmatic hernia, Small scrotum, Arachnodactyly, Camptodactyly of f... |
ORPHA:261344 |
Widow'S Peak Syndrome |
|
Kyphosis, Inguinal hernia, Recurrent patellar dislocation, High iliac wing, Arthralgia of the hip... |
OMIM:314570 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Scoliosis, Decreased testicular size, Abnormal sperm head mo... |
ORPHA:320391 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus |
ORPHA:1237 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
Basal Cell Nevus Syndrome |
|
Bifid ribs, Kyphoscoliosis, Hydrocephalus, Short distal phalanx of the thumb, Short ribs, Hemiver... |
OMIM:109400 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brachydactyly, Syn... |
OMIM:617895 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Coat hanger sign of ribs, Omphalocele, Umbilical hernia, Large placenta |
ORPHA:254534 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Ambiguous genitalia, Azoospermia, Gonadal tissue inappropria... |
ORPHA:261519 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Tethered cord, Scoliosis, Spinal dysraphism, Sandal gap, Macrodactyly |
OMIM:612918 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... |
ORPHA:2234 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck, Meningocele |
ORPHA:3456 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Pointed proximal second through fifth metacarpals, Inguinal hernia, Constricted iliac w... |
OMIM:253010 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Facial edema, Polyhydramnios, Lymphedema, Edema |
OMIM:618154 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Osteolysis involving bones of the lower limbs, Premature thelarche, Polycystic... |
ORPHA:371428 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy |
OMIM:264270 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Short nec... |
ORPHA:2522 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Congenital diaphragmatic hernia, Micropenis, Broad 2nd toe, Arachnodactyly, C... |
ORPHA:1692 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... |
OMIM:194080 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, External genital hypoplasia, Micropenis, Ambiguous genitalia, Dec... |
ORPHA:261534 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Hydrocephalus, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the ve... |
ORPHA:2180 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Short ribs, Hypoplastic ilia, Absent or minimally ossified vertebral bodies, Umb... |
OMIM:600972 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Inguinal hernia, Flexion contracture, Thin ribs, Long fingers, O... |
OMIM:608149 |
Limb Body Wall Complex |
|
Myelomeningocele, Diastasis recti, Hydrocephalus, Congenital diaphragmatic hernia, Thoracoabdomin... |
ORPHA:2369 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Vertebral segmentation defect, Holoprosencephaly, Hypoplasia of the radius, Abnormality of the hu... |
ORPHA:3186 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Brachydactyly, Camptodactyly, Ventral hernia, Broad thumb, Clinodactyly, Omphalocele |
OMIM:618529 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Gray matter heterotopia, Hiatus hernia, Lipoma, Prec... |
OMIM:304050 |
Codas Syndrome |
|
Metaphyseal dysplasia, Delayed ossification of carpal bones, Congenital hip dislocation, Scoliosi... |
OMIM:600373 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... |
OMIM:610319 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Coxa vara, Sprengel anomaly, Aplasia/Hypoplasia of the... |
ORPHA:1988 |
C Syndrome |
|
Dislocated radial head, Scoliosis, Ulnar deviation of finger, Postaxial hand polydactyly, Postaxi... |
OMIM:211750 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Coxa vara, Prominent sternum, Flared iliac wing, Thin ribs, Metaphyseal widening, Short neck, Ant... |
OMIM:300232 |
3Mc Syndrome 1 |
|
Abnormality of the abdominal wall, Clinodactyly of the 5th finger, Coronal craniosynostosis, Shor... |
OMIM:257920 |
Myotubular Myopathy With Abnormal Genital Development |
|
Ambiguous genitalia, male, Micropenis, Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Gla... |
OMIM:300219 |
Distal Monosomy 13Q |
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Ambiguous genitalia, Encephalocele, Anencephaly, Holoprosencephaly |
ORPHA:1590 |
Androgen Insensitivity Syndrome |
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Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
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Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... |
OMIM:250420 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
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Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:168593 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Flexion contracture of thumb, Miscarriage, External genital hypoplasia, Absent glenoid fossa, Hem... |
ORPHA:96334 |
Lethal Congenital Contracture Syndrome Type 1 |
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Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Slender long bon... |
ORPHA:1486 |
Achondrogenesis, Type Ii |
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Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... |
OMIM:200610 |
Lethal Congenital Contracture Syndrome 10 |
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Thoracic scoliosis, Adducted thumb, Overlapping fingers, Short neck, Broad ribs, Omphalocele |
OMIM:617022 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... |
OMIM:201810 |
47,Xyy Syndrome |
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Hydrocephalus, Micropenis, Hypospadias, Oligospermia, Finger clinodactyly, Varicocele, Male infer... |
ORPHA:8 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Squared-off platys... |
ORPHA:93352 |
Exstrophy-Epispadias Complex |
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Abnormality of the abdominal wall, Hydrocephalus, Female sexual dysfunction, Cloacal exstrophy, C... |
ORPHA:322 |
Marshall-Smith Syndrome |
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Hydrocephalus, Short sternum, Slender finger, Prominent fingertip pads, Craniosynostosis, Distal ... |
OMIM:602535 |
Isolated Follicle Stimulating Hormone Deficiency |
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Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... |
ORPHA:52901 |
Osteogenesis Imperfecta, Type Xv |
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Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Weismann-Netter Syndrome |
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Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Mosaic Trisomy 9 |
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Supernumerary ribs, Hypoplasia of penis, Hemivertebrae, Camptodactyly of finger, Short neck, Scol... |
ORPHA:99776 |
Testicular Agenesis |
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Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Ciliary Dyskinesia, Primary, 41 |
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Infertility, Immotile sperm |
OMIM:618449 |
Thoracoabdominal Syndrome |
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Hydrocephalus, Congenital diaphragmatic hernia, Hypospadias, Anencephaly, Ventral hernia, Omphalo... |
OMIM:313850 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Cryptorchidism, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pelvis, Ambi... |
OMIM:616300 |
White Forelock With Malformations |
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Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... |
ORPHA:2475 |
Grant Syndrome |
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Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Wormian bone... |
ORPHA:2097 |
Waardenburg Syndrome Type 1 |
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Spina bifida, Scoliosis, Meningocele |
ORPHA:894 |
Autosomal Dominant Omodysplasia |
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Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Bifid scrotum |
ORPHA:93328 |
Thanatophoric Dysplasia, Type I |
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Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... |
OMIM:187600 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607271 |
Chromosome 9P Deletion Syndrome |
|
Inguinal hernia, Micropenis, Clinodactyly of the 4th toe, Hypospadias, Short neck, Scoliosis, Tap... |
OMIM:158170 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:2772 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Ambiguous genitalia, Hypospadias |
ORPHA:276422 |
Joubert Syndrome 15 |
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Ambiguous genitalia, Micropenis |
OMIM:614464 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Hydrocephalus, Femoral bowing, Short 1st metacarpal, 11 pairs... |
OMIM:114290 |
Congenital Pseudoarthrosis Of The Clavicle |
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Congenital pseudoarthrosis of the clavicle, Cervical ribs, Osteoarthritis |
ORPHA:66630 |
Phaver Syndrome |
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Myelomeningocele, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal fo... |
ORPHA:2876 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Ambiguous genitalia, Anterior hypopituitarism |
OMIM:601016 |
Vacterl Association With Hydrocephalus |
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Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Abnormality of the vertebral ... |
OMIM:276950 |
Neu-Laxova Syndrome |
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External genital hypoplasia, Flexion contracture, Scoliosis, Polymicrogyria, Abnormal cortical gy... |
ORPHA:2671 |
Fryns Microphthalmia Syndrome |
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Abnormality of the vertebral column, Neural tube defect |
OMIM:600776 |
Melnick-Needles Syndrome |
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Short distal phalanx of finger, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the han... |
OMIM:309350 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Short neck, Platyspondyly, Scoliosis, Pectus ... |
ORPHA:582 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Flexion contracture of finger, Flexion contracture, Inguinal he... |
ORPHA:254528 |
Sillence Syndrome |
|
Platyspondyly, Large tarsal bones, Back pain, Chess-pawn distal phalanges, Aplasia of the middle ... |
ORPHA:3168 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:202110 |
Bladder Exstrophy |
|
Abnormality of the clitoris, Hypoplasia of penis, Inguinal hernia, Bladder exstrophy, Omphalocele... |
ORPHA:93930 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Femoral bowing, Thin ribs, Short ribs |
OMIM:618188 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
3M Syndrome |
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Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Enlarged thorax, Thin ribs,... |
ORPHA:2616 |
Trisomy 18 |
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Congenital diaphragmatic hernia, Holoprosencephaly, Abnormal hip bone morphology, Camptodactyly o... |
ORPHA:3380 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, male, Partial development of the penile shaft, Testicular dysgenesis, Crypto... |
OMIM:608800 |
Lateral Meningocele Syndrome |
|
Kyphosis, Cryptorchidism, Inguinal hernia, Prominent metopic ridge, Short neck, Scoliosis, Abnorm... |
ORPHA:2789 |
Achondrogenesis Type 1B |
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Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Short foot, Umbilical hernia |
ORPHA:93298 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Developmental And Epileptic Encephalopathy 89 |
|
Flexion contracture, Death in childhood, Scoliosis, Neonatal death, Hypoplastic labia minora, Cli... |
OMIM:619124 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... |
OMIM:619698 |
Split Cord Malformation |
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Hydrocephalus, Tethered cord, Hemivertebrae, Lipomyelomeningocele, Hydromyelia, Lipoma, Back pain... |
ORPHA:573278 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Inguinal hernia, Coat hanger sign of ribs, Short neck, Omphaloce... |
ORPHA:254519 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Gray matter heterotopia, Nasofrontal encephalocele, Polymicrogyria, Meningocele... |
ORPHA:101030 |
Holoprosencephaly |
|
Hydrocephalus, Congenital diaphragmatic hernia, Hypoplasia of penis, Holoprosencephaly, Hand poly... |
ORPHA:2162 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Elbow ankylosis, Abnormal external genitalia, Craniosynostosis, Femoral bowing, Pr... |
ORPHA:95699 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Chordee, Kyphoscoliosis, Gray matter heterotopia, Streak ovary, Holopro... |
OMIM:618820 |
Miller-Dieker Lissencephaly Syndrome |
|
Abnormality of the abdominal wall, Gray matter heterotopia, Clinodactyly of the 5th finger, Joint... |
OMIM:247200 |
Sacral Defect With Anterior Meningocele |
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Anterior sacral meningocele, Myelomeningocele, Hydrocephalus, Hemisacrum, Back pain, Tethered cor... |
OMIM:600145 |
Lymphatic Malformation 10 |
|
Hydrocele testis, Lymphedema |
OMIM:619369 |
Humero-Radial Synostosis |
|
Elbow ankylosis, Abnormality of the wrist, Meningocele, Tarsal synostosis, Aplasia/Hypoplasia of ... |
ORPHA:3265 |
Simpson-Golabi-Behmel Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Short neck, Congenital hip dislocation, Umb... |
ORPHA:373 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... |
ORPHA:3082 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... |
OMIM:604922 |
Lateral Meningocele Syndrome |
|
Kyphosis, Cryptorchidism, Inguinal hernia, Short neck, Biconcave vertebral bodies, Scoliosis, Wor... |
OMIM:130720 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Communicating hydrocep... |
ORPHA:2050 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
Osteogenesis Imperfecta, Type Ii |
|
Tibial bowing, Beaded ribs, Thin ribs, Platyspondyly, Wormian bones, Bell-shaped thorax, Thoracic... |
OMIM:166210 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Bifid scrotum, Micropenis, Urethral diverticulum, Ventral shorte... |
ORPHA:95706 |
German Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Lymphedema |
ORPHA:2077 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdominal wall musculature, Short neck, ... |
ORPHA:175 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Narrow chest, Communicating hydrocephalus, Thoracic dysplasia, Short ribs |
OMIM:273730 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... |
ORPHA:251510 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Aplasia of the vagina, Supernumerary vertebrae, Supernumerary ribs, Spina bifida |
OMIM:193500 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the c... |
ORPHA:163966 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Clinodactyly of the 5th finger, Joint contracture of the hand, Arachnodactyly, Sco... |
OMIM:300373 |
46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Ambiguous genitalia |
OMIM:618901 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Short distal phalanx of finger, Hydrocephalus, Short neck, Brachydactyly, Punct... |
ORPHA:1914 |
Mosaic Trisomy 14 |
|
Abnormal rib morphology, Camptodactyly of finger, Short neck, Narrow chest |
ORPHA:1703 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele, Apl... |
ORPHA:1908 |
Focal Dermal Hypoplasia |
|
Hydrocephalus, Labial hypoplasia, Hiatus hernia, Congenital hip dislocation, Clitoral hypoplasia,... |
OMIM:305600 |
Jacobsen Syndrome |
|
Long hallux, Short toe, Toe clinodactyly, Cryptorchidism, Inguinal hernia, Broad hallux phalanx, ... |
ORPHA:2308 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Fryns Syndrome |
|
Short distal phalanx of finger, Joint contracture of the hand, Prominent fingertip pads, Thin rib... |
OMIM:229850 |
Donnai-Barrow Syndrome |
|
Short sternum, Bicornuate uterus, Congenital diaphragmatic hernia, Umbilical hernia, Omphalocele |
OMIM:222448 |
Filippi Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
OMIM:272440 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Achondrogenesis Type 1A |
|
Narrow chest, Multiple rib fractures, Short neck, Short thorax, Short foot, Umbilical hernia, Sho... |
ORPHA:93299 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Functioning Gonadotropic Adenoma |
|
Amenorrhea, Infertility, Hydrocephalus, Impotence, Ovarian cyst, Oligospermia, Abnormality of the... |
ORPHA:91348 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Short long bone... |
OMIM:618019 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uterus, Omphalocele |
ORPHA:2736 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Butterfly vertebrae, Absence of the sacrum, Tethered cord |
OMIM:617660 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Short neck, Brachydactyly, Abnormal form of the vertebral bodies, Hyperlordosis,... |
ORPHA:3218 |
Gapo Syndrome |
|
Amenorrhea, Dysmenorrhea, Oligospermia, Abnormal form of the vertebral bodies, Umbilical hernia, ... |
ORPHA:2067 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Micropenis, Short neck, Scoliosis, Short phalanx of finger, Brachydactyly, Camptodactyl... |
OMIM:616894 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... |
OMIM:142900 |
Thoraco-Abdominal Enteric Duplication |
|
Diastomatomyelia, Camptodactyly of finger, Missing ribs, Meningocele |
ORPHA:1759 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Short neck, Broad hallux, Cervical hemivertebrae, Clinodactyly of the 5th finger, ... |
ORPHA:508498 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Gray matter heterotopia, Hypospadias, Bifid uterus, Anencephaly, Seve... |
OMIM:236680 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Shor... |
ORPHA:2347 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... |
ORPHA:2759 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Kniest Dysplasia |
|
Enlarged joints, Hip contracture, Tibial bowing, Delayed epiphyseal ossification, Coxa vara, Ingu... |
OMIM:156550 |
Bartsocas-Papas Syndrome 1 |
|
Absent thumb, Short neck, Ambiguous genitalia, Omphalocele, Hypoplastic male external genitalia, ... |
OMIM:263650 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Narrow chest, Abnormal metaphyseal trabeculation, Short sternum, H... |
OMIM:224300 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Diastasis recti, Hypoplasia of the uterus, Bifid distal phalanx of toe, Scoliosis, Clitoral hypop... |
OMIM:618419 |
Fraser Syndrome |
|
Vertebral segmentation defect, Myelomeningocele, Abnormal vagina morphology, Urethral atresia, Hy... |
ORPHA:2052 |
Neu-Laxova Syndrome 1 |
|
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Short umbi... |
OMIM:256520 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Cryptorchidism, Holoprosencephaly, Hypospadias, Postaxial han... |
ORPHA:2166 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Cooper-Jabs Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... |
ORPHA:1488 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wormian bones, Bowing of the long bones, V... |
OMIM:617952 |
Lissencephaly, X-Linked, 2 |
|
Ambiguous genitalia, Decreased testicular size, Micropenis |
OMIM:300215 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Sandal gap, Umbilical... |
OMIM:619636 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... |
ORPHA:90797 |
Achondrogenesis, Type Ia |
|
Narrow chest, Bowing of the legs, Short clavicles, Short ribs, Hypoplasia of the radius, Hypoplas... |
OMIM:200600 |
15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Kyphosis, Abnormality of toe, Congenital diaphragmatic hernia, Small hand, Hypo... |
ORPHA:94065 |
Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Thin ribs, Split f... |
ORPHA:958 |
Fanconi Anemia |
|
Abnormality of femur morphology, Hydrocephalus, Absent testis, Decreased fertility in males, Hypo... |
ORPHA:84 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... |
OMIM:252600 |
Opitz Gbbb Syndrome |
|
Vertebral segmentation defect, Congenital diaphragmatic hernia, Inguinal hernia, Craniosynostosis... |
ORPHA:2745 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Hydrocephalus, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Platyspondyly, Wo... |
OMIM:616294 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Tethered cord, Neural tube defect, Meningocele, Thoracic he... |
ORPHA:268810 |
Frasier Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... |
ORPHA:347 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Cellulitis, Inguinal herni... |
OMIM:618000 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Multiple rib fractures, Platyspondyly, Wormian bones, Angulated humerus, Bowing of ... |
OMIM:616229 |
Meckel Syndrome, Type 1 |
|
Hydrocephalus, Ambiguous genitalia, female, External genital hypoplasia, Ambiguous genitalia, mal... |
OMIM:249000 |
Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, E... |
ORPHA:2911 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Meckel Syndrome |
|
Hydrocephalus, Urethral atresia, Encephalocele, Male pseudohermaphroditism, Pancreatic fibrosis, ... |
ORPHA:564 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:452 |
Hypophosphatasia |
|
Narrow chest, Craniosynostosis, Abnormal rib morphology, Bowing of the long bones, Abnormal metap... |
ORPHA:436 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... |
OMIM:250220 |
Three M Syndrome 2 |
|
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Slender long bone, Prominent calca... |
OMIM:612921 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Sprengel anomaly, Abnormality of the vertebral column |
OMIM:601076 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Coronal craniosynostosis, Small hand, Sagittal craniosynosto... |
OMIM:145420 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Epiphyseal stippling of toe phalanges, Cervical vertebral dysplasia, Epiphysea... |
ORPHA:79345 |
Cenani-Lenz Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Synostosis of carpal bones, Scoliosis, Short thumb, ... |
ORPHA:3258 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Short neck, Scoliosis, Camptodact... |
OMIM:611209 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
Spinocerebellar Ataxia Type 32 |
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Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Vater/Vacterl Association |
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Tethered cord, Hypoplasia of the radius, Preaxial polydactyly, Hypospadias, Scoliosis, Syndactyly... |
OMIM:192350 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Cryptorchidism, Death in infancy, Umbilical hernia, Omphalocele |
ORPHA:2241 |
Scarf Syndrome |
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Diastasis recti, Short sternum, Inguinal hernia, Craniosynostosis, Micropenis, Bifid scrotum, Sho... |
ORPHA:3134 |
Kniest-Like Dysplasia, Lethal |
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Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ili... |
OMIM:245190 |
Kyphomelic Dysplasia |
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Tibial bowing, Radial bowing, Lateral clavicle hook, Short femur, Undulate ribs, Femoral bowing, ... |
OMIM:211350 |
Fryns Syndrome |
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Short distal phalanx of finger, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, ... |
ORPHA:2059 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Hydrocephalus, Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Short hum... |
OMIM:314390 |
Cleidocranial Dysplasia |
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Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders,... |
ORPHA:1452 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Broad phalanx, Pectus excavatum, Platyspondyly, C1-C2 subluxation, Hip subluxation, Posterior rib... |
OMIM:271665 |
Tibial Hemimelia |
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Hemivertebrae, Radial club hand, Ambiguous genitalia, Aplasia of the 2nd metacarpal, Absent hallu... |
ORPHA:93322 |
Osteogenesis Imperfecta, Type Iii |
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Kyphosis, Tibial bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, Slender long bone,... |
OMIM:259420 |
Spermatogenic Failure 66 |
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Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
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Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
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Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
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Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
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Globozoospermia, Male infertility |
OMIM:619826 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
Isolated Anencephaly |
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Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
Hallermann-Streiff Syndrome |
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Thin ribs, Metaphyseal widening, Scoliosis, Wormian bones, Slender long bone, Hyperlordosis, Cryp... |
OMIM:234100 |
Ciliary Dyskinesia, Primary, 14 |
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Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 18 |
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Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Caudal Regression Syndrome |
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Ambiguous genitalia, Cryptorchidism, Arrhinencephaly |
ORPHA:3027 |
Ciliary Dyskinesia, Primary, 46 |
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Reduced sperm motility |
OMIM:619436 |
Fetal Trimethadione Syndrome |
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Ambiguous genitalia, Hypospadias |
ORPHA:1913 |
CantĂș Syndrome |
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Short distal phalanx of finger, Narrow chest, Broad hallux phalanx, Short neck, Platyspondyly, Sh... |
ORPHA:1517 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Acetabular spurs, Absent tibia, Metaphyseal spurs, Lateral clavicle hook, Short ribs, Postaxial p... |
OMIM:613091 |
Orofaciodigital Syndrome Iii |
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Kyphosis, Pectus excavatum, Short sternum, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:258850 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Short distal phalanx of finger, Hypoplastic sacrum, Small hand, Cone-shaped epiphysis, Oligosperm... |
OMIM:614813 |
Lead Poisoning |
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Infertility, Miscarriage, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormalit... |
ORPHA:330015 |
Mucopolysaccharidosis Type 7 |
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Inguinal hernia, Abnormal hip bone morphology, Anterior beaking of lumbar vertebrae, Short neck, ... |
ORPHA:584 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Broad femoral neck, Wormian bones, Short tubular bones of the hand, Vertebral arch anomaly, Broad... |
ORPHA:85184 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary cavity of the lo... |
ORPHA:93324 |
Craniosynostosis, Herrmann-Opitz Type |
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Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Finger syndactyly |
ORPHA:2145 |
Enlarged Parietal Foramina |
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Myelomeningocele, Short clavicles, Craniosynostosis, Broad thumb, Occipital encephalocele |
ORPHA:60015 |
Greenberg Dysplasia |
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Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... |
OMIM:215140 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Umbil... |
OMIM:265000 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Platyspo... |
ORPHA:93317 |
Non-Syndromic Anorectal Malformation |
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Myelomeningocele, Hemisacrum, Tethered cord, Hemivertebrae, Hypospadias, Persistent cloaca, Recto... |
ORPHA:557 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Ambiguous genitalia, female, Adrenocorticotropic hormone excess, Ambiguous genitalia, male, Male ... |
ORPHA:90791 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Ambiguous genitalia, female, Precocious puberty, Premature thelarche, Isosexual precocious pubert... |
ORPHA:90795 |
Pyknoachondrogenesis |
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Enlarged thorax, Abnormal iliac wing morphology, Unossified sacrum, Short ribs, Hypoplastic ischi... |
ORPHA:3003 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Decreased circulating IgA level, Decreased circulating IgG level, Decre... |
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