Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mitogen-activated protein kinase kinase kinase 4
Synonyms:
MTK1,  MAPKKK4,  D17Rp17,  RP17,  D17Rp17e,  Mekk4,  Tas

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Map3k4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Map3k4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
46,Xy Sex Reversal 4
Sex reversal, Gonadal dysgenesis OMIM:154230
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, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
46,Xy Ovotesticular Disorder Of Sex Development
Ambiguous genitalia, Ovotestis, Urogenital sinus anomaly, Bifid scrotum, Chordee, Gonadoblastoma,... ORPHA:325345
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Cervical Rib
Cervical ribs OMIM:117900
46,Xy Sex Reversal 5
Sex reversal OMIM:613080
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Caudal Duplication
Cryptorchidism, Spina bifida, Abnormal penis morphology, Spinal cord lesion, Omphalocele, Vertebr... ORPHA:1756
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Phalangeal dislocation, Omphalocele ORPHA:85174
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Pectus carinatum, Ovoid vertebral bodies, Coxa vara, Genu va... OMIM:184255
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Acalvaria
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Omphalocele, Abnormality of neuronal... ORPHA:945
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Bell-shaped thorax, Short long bone, Coxa vara, Gen... OMIM:611702
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Oligohydramnios, Sex reversal, Hypospadias, Adrenal gland agenesis OMIM:611812
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Pectus carinatum, Osteoporotic me... OMIM:609052
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bicornuate uterus, Death in infancy, Hydrocephalus OMIM:258320
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Azoospermia ORPHA:98797
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ambiguous genitalia, Ovotestis, Decreased testicular size, External genital hypoplasia, Hypospadi... OMIM:610644
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Isolated Hemihyperplasia
Scoliosis, Cryptorchidism, Inguinal hernia, Myelomeningocele ORPHA:2128
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Autosomal Dominant Brachyolmia
Platyspondyly, Short thorax, Increased vertebral height, Kyphoscoliosis, Abnormality of the metap... ORPHA:93304
46,Xy Sex Reversal 1
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Gonadoblastoma, Sex reversal... OMIM:400044
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Vertebral segmentation defect, Hemivertebrae, Vertebral fusion, Abnorma... OMIM:613686
Neural Tube Defects, Susceptibility To
Lipoma, Sacral dimple, Anencephaly, Absence of the sacrum, Multiple lipomas, Spina bifida occulta... OMIM:182940
Boomerang Dysplasia
Cryptorchidism, Abnormality of tibia morphology, Abnormality of femur morphology, Poorly ossified... ORPHA:1263
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Ab... ORPHA:2345
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Posterior scalloping of vertebral bodies, Congenital hip dislocation, Metaphyseal irre... OMIM:603546
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Dysgerminoma, Hypospadias, Clitoral hypertrophy OMIM:613762
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular vertebr... OMIM:187760
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Platyspondyly, Abnormality of the knee, Abnormal vertebral morphology,... ORPHA:163665
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Pectus carinatum, Thoracic kyphosis, Irregular vertebral e... OMIM:609223
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Thoracic hypoplasia, Ovoid vertebral bodies, Irregular ep... OMIM:608728
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Micropenis, Ambiguous genitalia... ORPHA:1772
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Abnormality of the knee, Irregular epiphyses, Intervertebral disk ... OMIM:614135
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd fing... ORPHA:93320
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Short neck, Pectus carinatum, Low back pain, Hemivertebrae, Vert... OMIM:122600
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Trigonocephaly 1
Omphalocele, Craniosynostosis, Lumbar hemivertebrae, Long penis OMIM:190440
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narrow chest, Abnormal form o... ORPHA:2635
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Spr... ORPHA:40
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Micropenis, Hydr... OMIM:309801
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormalit... ORPHA:2790
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Cubitus valgus, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Inguinal hernia, Joint contracture of the hand, Camptodactyly OMIM:211960
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Holoprosencephaly, Foot oligodactyly, Omphalocele OMIM:601357
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Abnormality of the ribs, Ambiguous genitalia, Abnormality of epiphysis morphology,... ORPHA:93267
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Proximal femoral metaphyseal irregularity, Reduced sperm mot... OMIM:602271
Craniorachischisis
Bifid sternum, Cervical spina bifida, Sirenomelia, Spinal dysraphism, Omphalocele, Anencephaly, C... ORPHA:63260
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Broad toe, Beaking of vertebral bodi... OMIM:609616
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, Abnormality of the metaphysis, Abn... ORPHA:1354
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Short thorax, Abnormal form of the vertebral bodies, Pectus excavatum ORPHA:93302
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius ORPHA:2476
Miller-Dieker Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Omphalocele, Lissencephaly ORPHA:531
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Diaphanospondylodysostosis
Short thorax, Myelomeningocele, Enlarged thorax, Absent or minimally ossified vertebral bodies, A... ORPHA:66637
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Vertebral segmentation defect, Spin... ORPHA:1797
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Serkal Syndrome
Sex reversal, Abnormal penis morphology, Oligohydramnios, Hypospadias ORPHA:139466
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Finger syndactyly, Omphalocele, Aplasia/Hypopla... ORPHA:2141
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Hemihyperplasia, Isolated
Scoliosis, Myelomeningocele OMIM:235000
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Cryptorchidism, Abnormal morphology of female internal genita... ORPHA:2311
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Thoracolumbar scoliosis, Split foot, Spina bifida occult... OMIM:183802
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Abnormality of the urethra, Male pseudohermaphroditism, Hypo... ORPHA:752
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Aqueductal stenosis, Tibial bowing, Abnorma... ORPHA:3035
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Hydrocephalus With Associated Malformations
Omphalocele, Tibial bowing, Lower limb undergrowth, Short lower limbs, Hydrocephalus OMIM:236640
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Limited... OMIM:271650
Iniencephaly
Hyperlordosis, Rocker bottom foot, Spina bifida, Arthrogryposis multiplex congenita, Holoprosence... ORPHA:63259
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis OMIM:264600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormality of the knee, Abnormal morphology of female internal genitalia, Abnormal fo... ORPHA:1834
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Adrenocorticotropic hormone excess OMIM:613743
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Fibrochondrogenesis 1
Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Posteri... OMIM:228520
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
46,Xx Sex Reversal 4
Ambiguous genitalia, Clitoral hypertrophy, Micropenis, Penoscrotal hypospadias OMIM:617480
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Preaxial hand polydactyly, Abnormal thumb morphology, Death in infancy, Short dista... ORPHA:1120
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Omphalo... OMIM:201000
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Pectus ... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Hyperlordosis, Anterior rib cupping, Platyspondyly, Genu valgum, Delayed pubic bone os... OMIM:184250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Dislocated radial head, Multiple joint dislocation, Metaphyseal irregul... OMIM:618395
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Schisis Association
Spina bifida, Omphalocele, Anencephaly, Congenital diaphragmatic hernia ORPHA:63862
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Urethral obstruction, Prune belly, Omphalocele, Cervical ribs, Thoraco... OMIM:601389
Triploidy
Cryptorchidism, Ambiguous genitalia, Finger syndactyly, Holoprosencephaly, Omphalocele, Meningoce... ORPHA:3376
Kennerknecht Syndrome
Toe syndactyly, Hypoplasia of the uterus, Omphalocele, Abnormal joint morphology, Thoracolumbar s... OMIM:600908
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Dislocated radial head, Ambiguous genitalia, Abnormal form... ORPHA:2839
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Spina bifida, Bifid scrotum, Hypoplastic labia... ORPHA:83628
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Cloacal Exstrophy
Absent foot, Spina bifida, Abnormality of tibia morphology, Omphalocele, Abnormality of the clito... ORPHA:93929
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondra... OMIM:187601
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Postaxial hand polydactyly, Toe syndactyly, Narrow ch... ORPHA:474
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, Posterolateral diaphragmatic hernia, 1-2 finger syndactyly, ... ORPHA:2437
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Short me... OMIM:304120
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Limited elbow extension, Flared iliac wing, Ulnar bowing, Irregular... OMIM:602111
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Spina bifida, Cubitus valgus, Toe syndactyly, Abnormal form of the verte... ORPHA:1327
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Short thorax, Genu valgum, Coronal cleft vertebrae, Abnormal vertebral ... OMIM:618363
Sirenomelia
Ambiguous genitalia, Spina bifida, Sirenomelia ORPHA:3169
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubi... OMIM:151210
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Pectus excavatum, Beaded ribs, Kyphosi... OMIM:259440
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Narrow chest, Metaphys... OMIM:269250
Distal Trisomy 15Q
Camptodactyly of finger, Cryptorchidism, Omphalocele, Abnormality of female external genitalia, S... ORPHA:1707
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Sex reversal, Holoprosencephaly, Scrotal hypop... OMIM:612651
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis, Osteoarthritis OMIM:184300
Otopalatodigital Syndrome, Type I
Scoliosis, Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, ... OMIM:311300
Omphalocele
Omphalocele ORPHA:660
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Male pseudohermaphroditism OMIM:600122
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Genu valgum, Short thorax, Limited e... ORPHA:239
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Preaxial hand polydactyly, Ambi... ORPHA:887
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Anophthalmia Plus Syndrome
Spina bifida, Vertebral segmentation defect, Deviation of finger ORPHA:1104
Ehlers-Danlos Syndrome, Periodontal Type, 2
Scoliosis, Inguinal hernia, Umbilical hernia OMIM:617174
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Kyphosis, Abnormality of the meta... ORPHA:3219
Kuskokwim Syndrome
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasi... ORPHA:1149
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, ... OMIM:615633
Wildervanck Syndrome
Meningocele, Short neck, Fused cervical vertebrae ORPHA:3456
Melnick-Needles Syndrome
Scoliosis, Abnormality of the ribs, Anisospondyly, Bowing of the long bones, Omphalocele, Short d... ORPHA:2484
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly, Hemivertebrae, Syndactyly, Un... OMIM:173800
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
Ring Chromosome 21 Syndrome
Scoliosis, Infertility, Azoospermia, Amenorrhea, Holoprosencephaly, Fused thoracic vertebrae, Tho... ORPHA:1445
Aplasia Cutis Congenita
Spinal dysraphism, Toe syndactyly, Finger syndactyly ORPHA:1114
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Short hallux, Fibular aplasia, Tarsal synostosis, Flared ilia... ORPHA:90652
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Hypochondroplasia
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Abnormality of the el... ORPHA:429
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Scoliosis, Macrodactyly, Spinal dysraphism, Sandal gap, Lipoma, Tethered cord OMIM:612918
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Omphalocele, Testicular atrophy, Syndactyly, Congenital diaphragmatic hernia, Cli... OMIM:601163
Smith-Mccort Dysplasia 1
Scoliosis, Atlantoaxial instability, Platyspondyly, Prominent sternum, Multicentric femoral head ... OMIM:607326
Oeis Complex
Cryptorchidism, Bifid uterus, Congenital hip dislocation, Omphalocele, Hemivertebrae, Rectovagina... OMIM:258040
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Silver-Russell Syndrome 3
Cryptorchidism, Ambiguous genitalia, Hypospadias OMIM:616489
Meckel Syndrome, Type 9
Ambiguous genitalia OMIM:614209
Vacterl With Hydrocephalus
Cryptorchidism, Spina bifida, Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ar... ORPHA:3412
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Short 4th metacarpal, Azoospermia, Hypergonadotropic hypogonadism, Short neck, Hy... ORPHA:2183
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Scoliosis, Camptodactyly, Congenital contracture, Umbilical hernia, Adducted thumb, Inguinal hern... OMIM:616266
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Preaxial hand polydactyly, Pachygyria, Exencephaly, Broad thumb, Finger syndactyly, Bifid scrotum... ORPHA:2211
Pseudotrisomy 13 Syndrome
Cryptorchidism, Postaxial hand polydactyly, Holoprosencephaly, 2-3 toe syndactyly, Omphalocele, H... OMIM:264480
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Trisomy 20P
Scoliosis, Platyspondyly, Spina bifida, Camptodactyly of finger, Preaxial hand polydactyly, Crypt... ORPHA:261318
Thanatophoric Dysplasia, Type I
Narrow chest, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondral junctions, Sh... OMIM:187600
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Hip dysplasia, Dislocated radial head, Limited elbow extension, Abnorma... ORPHA:93359
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Abnormal form of the vertebral bodies, Hypoplastic scapulae,... ORPHA:2021
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralg... ORPHA:93323
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs, Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Pagod Syndrome
Abnormal morphology of female internal genitalia, Spina bifida, Abnormality of the uterus, Ambigu... ORPHA:991
Methemoglobinemia And Ambiguous Genitalia
Ambiguous genitalia, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, Micropenis OMIM:250790
Pentalogy Of Cantrell
Scoliosis, Abnormality of tibia morphology, Split hand, Omphalocele, Anencephaly, Aplasia/Hypopla... ORPHA:1335
Omphalocele, X-Linked
Omphalocele OMIM:310980
Chiari Malformation Type Ii
Spina bifida, Gray matter heterotopia, Cervical myelopathy, Syringomyelia, Myelomeningocele, Hydr... OMIM:207950
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida occulta at S1, Cutan... OMIM:601829
Hyperekplexia 4
Camptodactyly, Flexion contracture, Umbilical hernia, Inguinal hernia, Distal arthrogryposis, Kyp... OMIM:618011
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Neural tube defect OMIM:600776
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Omphalocele, Sandal gap, Abnormal pelvis bone ossi... OMIM:215140
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:168558
Focal Dermal Hypoplasia
Scoliosis, Abnormal dental enamel morphology, Split hand, Omphalocele, Short clavicles, Congenita... ORPHA:2092
Phaver Syndrome
Triphalangeal thumb, Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Abnormal form o... ORPHA:2876
Diabetic Embryopathy
Cryptorchidism, Abnormal morphology of female internal genitalia, Micropenis, Spinal dysraphism, ... ORPHA:1926
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:289548
Humero-Radial Synostosis
Tarsal synostosis, Elbow dislocation, Elbow ankylosis, Meningocele, Aplasia/Hypoplasia of the thu... ORPHA:3265
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, T... OMIM:300863
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Diaphyseal thickening ORPHA:1513
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Pectus excavatum, Kyphosis, Rib fus... ORPHA:64755
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Wormian bones, Cryptorchidism, Abnormal form of the vertebral bodies, K... ORPHA:2789
Autosomal Recessive Spastic Paraplegia Type 46
Scoliosis, Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm mo... ORPHA:320391
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Abnormal vertebral mo... ORPHA:2319
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Omphalocele, Short long bone, Bicornuate uterus, Narrow greater sciatic notc... OMIM:263210
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Widow'S Peak Syndrome
Cryptorchidism, Hip osteoarthritis, Kyphosis, Narrow iliac wing, Inguinal hernia, Recurrent patel... OMIM:314570
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Thoracic kyphosis, Carpal bone hypoplasia, Camptodacty... OMIM:223800
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Premature sternal synostosis OMIM:184800
Nail-Patella Syndrome
Scoliosis, Limited elbow extension, Spina bifida, Hypoplastic radial head, Back pain, Iliac horns... OMIM:161200
Holt-Oram Syndrome
Abnormal clavicle morphology, Scoliosis, Broad thumb, Radioulnar synostosis, Finger syndactyly, S... ORPHA:392
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Cryptorchidism, Biconcave vertebral bodies, Kyphosis, Umbilical hernia,... OMIM:130720
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Basal Cell Nevus Syndrome
Scoliosis, Short 4th metacarpal, Spina bifida, Polydactyly, Down-sloping shoulders, Short ribs, H... OMIM:109400
Cerebrocostomandibular Syndrome
Spina bifida, Posterior rib gap, Kyphosis, Death in infancy, Meningocele, Clinodactyly of the 5th... ORPHA:1393
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia, Syndactyly, 2-4 toe syndactyly OMIM:241000
Ehlers-Danlos Syndrome, Classic-Like, 2
Squared iliac bones, Cryptorchidism, Cellulitis, Atrophic scars, Umbilical hernia, Shoulder dislo... OMIM:618000
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Biconcave vertebral bodies, Beaking of vertebral bodies, Coxa vara, Vertebra... OMIM:613982
Isolated Trigonocephaly
Omphalocele ORPHA:3366
Diastrophic Dwarfism
Scoliosis, Abnormal clavicle morphology, Hip dysplasia, Camptodactyly of finger, Hypoplastic cerv... ORPHA:628
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Donnai-Barrow Syndrome
Abnormality of the uterus, Omphalocele, Umbilical hernia, Bicornuate uterus, Congenital diaphragm... ORPHA:2143
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Congenital hip dislocation, Omphalocele OMIM:614450
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Trisomy 1Q
Camptodactyly of finger, Cryptorchidism, Preaxial hand polydactyly, Toe syndactyly, Ambiguous gen... ORPHA:261344
47,Xyy Syndrome
Cryptorchidism, Azoospermia, Finger clinodactyly, Oligospermia, Macroorchidism, Hypospadias, Male... ORPHA:8
Wagr Syndrome
Cryptorchidism, Displacement of the urethral meatus, Ambiguous genitalia ORPHA:893
Beemer-Ertbruggen Syndrome
Cryptorchidism, Ambiguous genitalia, Communicating hydrocephalus ORPHA:1237
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Hypoplasia of the radius, Hypoplastic ilia, Horizontal ribs, Postaxial polyd... OMIM:617895
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Large placenta, Omphalocele, Umbilical hernia, Coat hanger sign of ribs ORPHA:254534
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Pectus excavatum, Kyphosis, Abnormal hip bone morpho... ORPHA:2522
Amish Lethal Microcephaly
Spina bifida, Death in infancy, Lissencephaly ORPHA:99742
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Holoprosencephaly, Omphalocele, Hypoplasia of the ulna, Abnormality of ... ORPHA:3186
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Punctate vertebral calcifications, Short neck, Short distal phalanx of fing... ORPHA:1914
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy OMIM:264270
Achondrogenesis, Type Ib
Stillbirth, Hypoplastic ilia, Umbilical hernia, Short ribs, Absent or minimally ossified vertebra... OMIM:600972
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Short toe, Holoprosencephaly, Hypoplastic scapulae, Short finger, Horizontal... OMIM:269860
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Sandal gap, Ab... ORPHA:2180
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Oligospermia, Oligomenorrhea, Ab... ORPHA:52901
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal tissue inappropriate for external genitalia or chromosomal sex... OMIM:194080
Mosaic Trisomy 1
Camptodactyly of finger, 2-3 finger syndactyly, Rocker bottom foot, Toe syndactyly, Penile hyposp... ORPHA:1692
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Sclerotic cranial sutures, Abnormal form of the vertebral bodies, Osteolysis involvi... ORPHA:371428
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Gluteal Muscles, Absence Of
Scoliosis, Spina bifida occulta OMIM:231970
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Abnorm... ORPHA:2234
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger, Diastomatomyelia, Missing ribs ORPHA:1759
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Filippi Syndrome
Cryptorchidism, Ambiguous genitalia OMIM:272440
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Hydrocele testis, Lymphedema, Facial edema, Edema OMIM:618154
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Codas Syndrome
Scoliosis, Enamel hypoplasia, Genu valgum, Squared iliac bones, Cryptorchidism, Congenital hip di... OMIM:600373
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Short femur, Radioulnar synostosis, Sprengel anomaly, Preaxial foot pol... ORPHA:1988
Aicardi Syndrome
Scoliosis, Hiatus hernia, Spina bifida, Pachygyria, Bifid ribs, Gray matter heterotopia, Rib fusi... OMIM:304050
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Platyspondyly, Wormian bones, Prominent sternum, Flared iliac wing, Thoraci... OMIM:300232
Marshall-Smith Syndrome
Scoliosis, Bullet-shaped middle phalanges of the hand, Short sternum, Omphalocele, Umbilical hern... OMIM:602535
49,Xxxyy Syndrome
Ambiguous genitalia, Male hypogonadism, Increased circulating gonadotropin level, Abnormality of ... ORPHA:261534
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Scoliosis, Bifid distal phalanx of toe, Diastasis recti, Hip dysplasia, Limited elbow extension, ... OMIM:618419
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Narrow iliac wing, Meta... OMIM:250420
C Syndrome
Scoliosis, Dislocated radial head, Cryptorchidism, Postaxial hand polydactyly, Toe syndactyly, Om... OMIM:211750
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Kagami-Ogata Syndrome
Diastasis recti, Flexion contracture, Omphalocele, Thin ribs, Inguinal hernia, Kyphoscoliosis, Co... OMIM:608149
Sacral Defect With Anterior Meningocele
Hemisacrum, Back pain, Anterior sacral meningocele, Meningocele, Absence of the sacrum, Sacral li... OMIM:600145
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Short ribs, Short humerus, Short clavicles, Pr... OMIM:610319
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Irregular iliac cr... ORPHA:168549
Exstrophy-Epispadias Complex
Cryptorchidism, Spina bifida, Bifid uterus, Bifid scrotum, Omphalocele, Female sexual dysfunction... ORPHA:322
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal vertebral morphology, Metaphyseal irregularity,... ORPHA:93352
Achondrogenesis, Type Ii
Broad long bones, Absent vertebral body mineralization, Horizontal ribs, Short ribs, Hypoplastic ... OMIM:200610
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Slender long bone, Abnormal hip ... ORPHA:1486
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
3Mc Syndrome 1
Lambdoidal craniosynostosis, Radioulnar synostosis, Single interphalangeal crease of fifth finger... OMIM:257920
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cryptorchidism, Scrotal hypoplasia, Ambiguous genitalia, Hypoplasia of penis ORPHA:168593
Mosaic Trisomy 9
Scoliosis, Camptodactyly of finger, Spina bifida, Rocker bottom foot, Cryptorchidism, Abnormality... ORPHA:99776
Autosomal Dominant Omodysplasia
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Hypoplasia of penis ORPHA:93328
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Urogenital... ORPHA:325124
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Cryptorchidism, Camptodacty... ORPHA:96334
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Scoliosis OMIM:615220
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Waardenburg Syndrome Type 1
Meningocele, Scoliosis, Spina bifida ORPHA:894
White Forelock With Malformations
Finger syndactyly, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Clinodactyly ... ORPHA:2475
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Camptodactyly, Omphalocele, Clinodactyly, Ventral hernia, Brachydactyly OMIM:618529
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Broad ribs, Omphalocele, Adducted thumb, Short neck, Thoracic scoliosis OMIM:617022
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Genu ... OMIM:274000
Lymphatic Malformation 4
Lymphedema, Hydrocele testis OMIM:615907
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Cryptorchidism, Craniosynostosis, Tarsal synostosis, Camptodactyly, Abnormality of the... ORPHA:95699
Campomelic Dysplasia
Sex reversal, Polyhydramnios, Hydrocephalus OMIM:114290
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Ambiguous genitalia, Anterior hypopituitarism OMIM:601016
Limb Body Wall Complex
Thoracoabdominal wall defect, Aplasia of the proximal phalanges of the hand, Spina bifida, Diasta... ORPHA:2369
15Q24 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Abnormal thumb morphology, Microphallus, Kyphosis, Brachydactyly, Clin... ORPHA:94065
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Bowing of the lo... ORPHA:2097
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Ambiguous genitalia ORPHA:276422
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis ORPHA:2772
Neu-Laxova Syndrome
Scoliosis, Ambiguous genitalia, Spina bifida, Arthrogryposis multiplex congenita, Pachygyria, Fle... ORPHA:2671
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism OMIM:202110
Joubert Syndrome 15
Ambiguous genitalia, Micropenis OMIM:614464
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture of finger, Overlapping toe, Camptodactyly, Large placenta, F... ORPHA:254528
Achondrogenesis Type 1B
Short thorax, Narrow chest, Umbilical hernia, Short foot, Abnormality of the ribs, Short neck ORPHA:93298
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Short thorax, Platyspondyly, Genu valgum, Abnormality of epiphysis morp... ORPHA:582
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Stillbirth, Hypoplastic scapulae, Omphalocele, Short humeru... OMIM:309350
Bladder Exstrophy
Omphalocele, Umbilical hernia, Abnormality of the clitoris, Inguinal hernia, Bladder exstrophy, H... ORPHA:93930
Congenital Pseudoarthrosis Of The Clavicle
Cervical ribs, Osteoarthritis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Myelomen... ORPHA:101030
Teebi Hypertelorism Syndrome
Craniosynostosis, Omphalocele, Bicornuate uterus, Small hand, Shawl scrotum OMIM:145420
3M Syndrome
Scoliosis, Hyperlordosis, Short thorax, Scapular winging, Increased vertebral height, Congenital ... ORPHA:2616
Hyperparathyroidism, Transient Neonatal
Thin ribs, Femoral bowing, Short ribs, Narrow chest OMIM:618188
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology, Stillbirth,... OMIM:276950
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Short neck, Hypoplastic scapulae, Beaded r... OMIM:200600
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Urogenital sinus anomaly, Gray matter heterotopia, Chordee, Holoprosencephaly, St... OMIM:618820
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Non-obstructive azoospermia, Obstructive azoospermia, Decreased testicular size, Abn... ORPHA:399805
Mucopolysaccharidosis, Type Iva
Scoliosis, Hyperlordosis, Platyspondyly, Prominent sternum, Genu valgum, Constricted iliac wing, ... OMIM:253000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Tethered cord, Spinal dysraphism, Absence of the sacrum, Butterfly vertebrae OMIM:617660
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Broad ribs, Metaphyseal irregularity, Flared il... OMIM:253200
Sillence Syndrome
Scoliosis, Large iliac wing, Abnormal proximal phalanx morphology of the hand, Broad thumb, Campt... ORPHA:3168
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Cryptorchidism, Ambiguous genitalia, male, Testicular dy... OMIM:608800
Kagami-Ogata Syndrome
Diastasis recti, Large placenta, Omphalocele, Coat hanger sign of ribs, Inguinal hernia, Kyphosco... ORPHA:254519
Chromosome 9P Deletion Syndrome
Scoliosis, Micropenis, Omphalocele, Inguinal hernia, Hypospadias, Short neck, Tapered finger OMIM:158170
Trisomy 18
Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Cryptorchidism, Abnormal morph... ORPHA:3380
Developmental And Epileptic Encephalopathy 89
Scoliosis, Flexion contracture, Omphalocele, Hypoplastic labia majora, Neonatal death, Hypoplasti... OMIM:619124
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Functioning Gonadotropic Adenoma
Infertility, Abnormality of the menstrual cycle, Ovarian cyst, Oligospermia, Amenorrhea, Impotenc... ORPHA:91348
Simpson-Golabi-Behmel Syndrome
Scoliosis, Cryptorchidism, Broad thumb, Congenital hip dislocation, Death in infancy, Omphalocele... ORPHA:373
Waardenburg Syndrome, Type 1
Spina bifida, Supernumerary vertebrae, Myelomeningocele, Supernumerary ribs, Aplasia of the vagina OMIM:193500
Non-Syndromic Posterior Hypospadias
Cryptorchidism, Bifid scrotum, Omphalocele, Ventral shortening of foreskin, Urethral diverticulum... ORPHA:95706
German Syndrome
Lymphedema, Cryptorchidism, Ambiguous genitalia ORPHA:2077
Gapo Syndrome
Oligospermia, Amenorrhea, Abnormal form of the vertebral bodies, Umbilical hernia, Dysmenorrhea, ... ORPHA:2067
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Pachygyria, Gray matter heterotopia, Polydactyly, Camptodactyly, Omphalocele, Sac... OMIM:247200
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Thoracolumbar kyphosis, Delayed closure of the anterior fontanelle, Fibular aplasia, B... OMIM:300373
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal form of the vertebral bodies, Kyphosis, Bowing of the long bon... ORPHA:2050
Holoprosencephaly
Scoliosis, Cryptorchidism, Hand polydactyly, Branchial anomaly, Abnormal form of the vertebral bo... ORPHA:2162
Lymphatic Malformation 10
Lymphedema, Hydrocele testis OMIM:619369
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Hypoplastic ilia... ORPHA:163966
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Sprengel anomaly, Cervical C2/C3 vertebral fusion... OMIM:118100
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Hydromyelia, Thoracic hemivertebrae, Lipo... ORPHA:268810
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Thin ribs, Cl... OMIM:604922
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Abnormality of epiphys... ORPHA:3082
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoracic dysplasia, Short ribs, Communicating hydrocephalus, Narrow chest OMIM:273730
Split Cord Malformation
Scoliosis, Cervical spina bifida, Spinal cord tumor, Hemivertebrae, Abnormal lumbar spine morphol... ORPHA:573278
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Narrow chest, Umbilical hernia, Abnormal hip bone morphology, Abnormal... ORPHA:363705
Cartilage-Hair Hypoplasia
Scoliosis, Spinal dysraphism, Abnormality of the metaphysis, Abnormality of the ribs, Short neck,... ORPHA:175
Jacobsen Syndrome
Scoliosis, Cryptorchidism, Spina bifida, Pachygyria, Hand polydactyly, Toe syndactyly, Abnormal f... ORPHA:2308
Non-Syndromic Anorectal Malformation
Hemisacrum, Rectourethral fistula, Hydrocolpos, Hemivertebrae, Persistent cloaca, Rectovaginal fi... ORPHA:557
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Platyspondyly, Prominent sternum, Genu valgum, Constricted iliac wing, ... OMIM:253010
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Bifid uterus, Hydrocephalus ORPHA:2736
Mosaic Trisomy 14
Abnormality of the ribs, Camptodactyly of finger, Short neck, Narrow chest ORPHA:1703
Achondrogenesis Type 1A
Short thorax, Narrow chest, Umbilical hernia, Multiple rib fractures, Short foot, Short neck, Sho... ORPHA:93299
Kniest Dysplasia
Platyspondyly, Enlarged joints, Coronal cleft vertebrae, Hypoplastic pelvis, Flattened, squared-o... OMIM:156550
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs, Hydrocephalus OMIM:300864
Distal Monosomy 13Q
Holoprosencephaly, Ambiguous genitalia, Anencephaly ORPHA:1590
Focal Dermal Hypoplasia
Scoliosis, Enamel hypoplasia, Cryptorchidism, Short metatarsal, Congenital hip dislocation, Short... OMIM:305600
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Tibial Hemimelia
Radial club hand, Cryptorchidism, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Meta... ORPHA:93322
Thoracoabdominal Syndrome
Omphalocele, Anencephaly, Hypospadias, Congenital diaphragmatic hernia, Ventral hernia, Hydroceph... OMIM:313850
Opsismodysplasia
Anterior rib cupping, Scoliosis, Squared iliac bones, Narrow chest, Bell-shaped thorax, Metaphyse... OMIM:258480
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Wormian bones, Beaded ribs, Broad long bones, Tibial bowing, Crumpled long bones, ... OMIM:166210
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Narrow chest, Coronal cleft vertebrae, Abnormality of the is... ORPHA:2347
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Cryptorchidism, Broad thumb, Short phalanx of finger, Micropenis, Kyphosis, Camptodact... OMIM:616894
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Holt-Oram Syndrome
Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morphology, Finger clinodac... OMIM:142900
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Osteoarthri... ORPHA:1427
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Short neck, Thoracic scoliosis, Preaxial ... ORPHA:508498
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Abnormal form of the vertebral bodies, Umbilical hernia, Abnormality of femoral ep... ORPHA:3218
Constricting Bands, Congenital
Scoliosis, Hand polydactyly, Omphalocele, Gastroschisis, Syndactyly, Bladder exstrophy OMIM:217100
Mucopolysaccharidosis, Type Vii
Scoliosis, Thoracolumbar kyphosis, Platyspondyly, Genu valgum, Flexion contracture, Umbilical her... OMIM:253220
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Hallermann-Streiff Syndrome
Scoliosis, Wormian bones, Spina bifida, Hyperlordosis, Cryptorchidism, Thin ribs, Slender long bo... OMIM:234100
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Hypoplastic sacrum, Short metatarsal, Oligospermia, Hypoplastic pelvis, Cone-shaped epiphysis, Sh... OMIM:614813
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormal form of the vertebral bodies ORPHA:93941
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Clinodactyly of th... ORPHA:2759
Dysosteosclerosis
Platyspondyly, Delayed closure of the anterior fontanelle, Broad ribs, Narrow chest, Progressive ... OMIM:224300
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Omphalocele, Bicornuate uterus, Abse... OMIM:263650
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Abnormality o... ORPHA:1488
Fanconi Anemia
Scoliosis, Cryptorchidism, Bicornuate uterus, Abnormality of the ulna, Triphalangeal thumb, Abnor... ORPHA:84
Donnai-Barrow Syndrome
Bicornuate uterus, Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Fryns Syndrome
Rocker bottom foot, Cryptorchidism, Broad ribs, Stillbirth, Bifid scrotum, Arrhinencephaly, Campt... OMIM:229850
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Biconcave vertebral bodies, Bowing of the long bones, Umbilical hernia, Thin ribs,... OMIM:617952
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Patellar aplasia, Short ... OMIM:617604
Neu-Laxova Syndrome 1
Rocker bottom foot, Spina bifida, Cryptorchidism, Short umbilical cord, Toe syndactyly, Stillbirt... OMIM:256520
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Fraser Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Toe syndactyly, Abnormal vagina morphology... ORPHA:2052
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Aplasia/Hypopl... ORPHA:1908
Lissencephaly, X-Linked, 2
Decreased testicular size, Micropenis, Ambiguous genitalia OMIM:300215
Phocomelia, Schinzel Type
Radial bowing, Cryptorchidism, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular... ORPHA:2879
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Scoliosis, Hypoplasia of the radius, Rudimentary fibula, Finger syn... ORPHA:958
Neurocutaneous Melanocytosis
Meningocele, Death in infancy, Syringomyelia, Abnormality of neuronal migration ORPHA:2481
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Enlarged Parietal Foramina
Craniosynostosis, Myelomeningocele, Broad thumb, Short clavicles ORPHA:60015
Cole-Carpenter Syndrome 2
Platyspondyly, Wormian bones, Lambdoidal craniosynostosis, Pectus excavatum, Kyphosis, Narrow ili... OMIM:616294
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Craniosynostosis, Broad ribs, Split hand, Carpal bone hypoplas... OMIM:252600
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Cervical ribs, Synda... OMIM:148050
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Brachydactyly, Abnormality of epiphysis morphology ORPHA:2643
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Vertebral compression fracture OMIM:616229
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Narrow chest, Flared iliac wing, Metaphyseal irregularity, Iliac crest s... OMIM:250220
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog... ORPHA:399808
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Trisomy 8Q
Camptodactyly of finger, Cryptorchidism, Short neck, Hypoplasia of penis, Displacement of the ure... ORPHA:1752
Cat-Eye Syndrome
Abnormality of the ribs, Hip dysplasia ORPHA:195
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Unicoronal synostosis, Cryptorchidism, Ambiguous genitalia, Hypoplastic pelv... OMIM:616300
Hydrolethalus Syndrome 1
Bifid uterus, Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb undergrowth, Stil... OMIM:236680
Three M Syndrome 2
Hyperlordosis, Prominent calcaneus, Short thorax, Scapular winging, Pectus carinatum, Thin ribs, ... OMIM:612921
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Meckel Syndrome, Type 1
Cryptorchidism, Postaxial hand polydactyly, Abnormality of the uterus, Ambiguous genitalia, male,... OMIM:249000
Hypophosphatasia
Craniosynostosis, Narrow chest, Bowing of the long bones, Abnormality of the metaphysis, Abnormal... ORPHA:436
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Poland Syndrome
Scoliosis, Absent hand, Abnormal sternum morphology, Split hand, Hemivertebrae, Unilateral brachy... ORPHA:2911
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele OMIM:603194
Cenani-Lenz Syndrome
Scoliosis, Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Abnorma... ORPHA:3258
Scarf Syndrome
Enamel hypoplasia, Cryptorchidism, Diastasis recti, Craniosynostosis, Bifid scrotum, Abnormal for... ORPHA:3134
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morph... OMIM:314390
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Postaxial hand polydactyly, Holoprosencephaly, Omphalocele, ... ORPHA:2166
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Small hand, Short foot, Abnormality of the ribs, Short neck, Vertebral ... OMIM:611209
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Short distal phalanx of toe, Short distal phalanx of finger, Calcaneal epip... ORPHA:79345
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis ORPHA:452
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Tri... OMIM:271665
Kniest-Like Dysplasia, Lethal
Platyspondyly, Short neck, Broad ribs, Narrow chest, Coronal cleft vertebrae, Metaphyseal irregul... OMIM:245190
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Hyperlordosis, Platyspondyly, Bowing of the long bones, Metaphyseal cupping, Limited e... ORPHA:85167
Opitz Gbbb Syndrome
Cryptorchidism, Craniosynostosis, Bifid scrotum, Enlarged ovaries, Shawl scrotum, Omphalocele, Um... ORPHA:2745
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Thin ribs, Vertebral f... OMIM:271520
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Biconcave vertebral bodies, Kyphosis, Tibial bowin... OMIM:259420
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Cleidocranial Dysplasia
Scoliosis, Genu valgum, Wormian bones, Abnormal thumb morphology, Narrow chest, Abnormality of ep... ORPHA:1452
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Hip dislocation, Sacral lipoma ORPHA:2003
Kyphomelic Dysplasia
Anterior rib cupping, Platyspondyly, Lateral clavicle hook, Short femur, Bowed humerus, Radial bo... OMIM:211350
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Scapular winging, Anteriorly placed odontoid pro... OMIM:305620
Fryns Syndrome
Cryptorchidism, Short neck, Omphalocele, Short distal phalanx of finger, Bicornuate uterus, Conge... ORPHA:2059
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Death in infancy, Omphalocele, Umbilical hernia ORPHA:2241
Vater/Vacterl Association
Scoliosis, Spina bifida, Hypoplasia of the radius, Radioulnar synostosis, Abnormal vertebral morp... OMIM:192350
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Radial bowing, Wormian bones, Kyphosis, Tibial bowing, Thin ribs, Slend... OMIM:610915
Pontocerebellar Hypoplasia, Type 7
Ambiguous genitalia, Micropenis OMIM:614969
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Preaxial polydactyly, Horizo... OMIM:613091
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Pectus excavatum, Short sternum, Kyphosis, Postaxial foot polydactyly OMIM:258850
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Cryptorchidism, Split hand, Scrotal hypoplasia, Hemivertebrae, Phocomelia, ... OMIM:276820
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Platyspondyly, Broad ribs, Narrow chest, Finger syndactyly, Ovoid vertebral bodies,... ORPHA:1517
Meckel Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Oligohydramnios, Pancreatic cysts, Anencep... ORPHA:564
Pyknoachondrogenesis
Aplastic pubic bones, Short thorax, Short iliac bones, Enlarged thorax, Poorly ossified vertebrae... ORPHA:3003
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bod... OMIM:265000
Mucopolysaccharidosis Type 7
Scoliosis, Epiphyseal stippling, Umbilical hernia, Anterior beaking of lumbar vertebrae, Inguinal... ORPHA:584
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Metaphyseal chondrodysplasia, Narrow chest, Short palm, Cone-shaped epiphysis, Ili... ORPHA:93317
Fetal Trimethadione Syndrome
Hypospadias, Ambiguous genitalia ORPHA:1913
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Broad ribs, Abnormal diaphysis morphology, Short tubular bones of the hand, Overtu... ORPHA:85184
Charge Syndrome
Scoliosis, Abnormality of the ribs, Cryptorchidism, Hand polydactyly, Hypoplastic male external g... OMIM:214800
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Finger syndactyly, Split hand, Abnormality of the ribs, Brachydactyly ORPHA:2145
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary cavity of the lo... ORPHA:93324
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Long penis, Premature pubarche, Ambiguous genitalia, female, Polycystic ovar... ORPHA:90795
Bruck Syndrome 2
Platyspondyly, Wormian bones, Flexion contracture, Inguinal hernia, Pterygium, Knee flexion contr... OMIM:609220
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Azoospermia, Ambiguous genitalia, male, Clitoral hypertrophy, Congenital adrenal ... ORPHA:90791
Neurofibromatosis, Type I
Scoliosis, Genu valgum, Spina bifida, Aqueductal stenosis, Tibial pseudarthrosis, Hydrocephalus OMIM:162200
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the anterio... OMIM:614008
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Abnormal vertebral morphology, Holoprosencephaly, Hemivertebrae, Hypoplasia of pe... ORPHA:77298
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ambiguous genitalia, Micropenis OMIM:618142
Mucopolysaccharidosis Type 6
Genu valgum, Broad ribs, Ovoid vertebral bodies, Kyphosis, Abnormality of the metaphysis, Short n... ORPHA:583
Acromelic Frontonasal Dysplasia
Meningocele, Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612650
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Hydrocephalus OMIM:611134
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Narrow chest, Forearm undergrowth, Absen... OMIM:251230
Lymphatic Malformation 6
Polyhydramnios, Hydrocele testis, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites, Non... OMIM:616843
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty