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Gene: Map3k4 MGI:1346875

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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:
RP17,  D17Rp17e,  MAPKKK4,  Tas,  Mekk4,  T-associated sex reversal,  D17Rp17,  MTK1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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,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-Küster-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
Ambiguous genitalia, Encephalocele, Anencephaly, Holoprosencephaly ORPHA:1590
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Miscarriage, External genital hypoplasia, Absent glenoid fossa, Hem... ORPHA:96334
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Slender long bon... ORPHA:1486
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Adducted thumb, Overlapping fingers, Short neck, Broad ribs, Omphalocele OMIM:617022
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... OMIM:201810
47,Xyy Syndrome
Hydrocephalus, Micropenis, Hypospadias, Oligospermia, Finger clinodactyly, Varicocele, Male infer... ORPHA:8
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Squared-off platys... ORPHA:93352
Exstrophy-Epispadias Complex
Abnormality of the abdominal wall, Hydrocephalus, Female sexual dysfunction, Cloacal exstrophy, C... ORPHA:322
Marshall-Smith Syndrome
Hydrocephalus, Short sternum, Slender finger, Prominent fingertip pads, Craniosynostosis, Distal ... OMIM:602535
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Mosaic Trisomy 9
Supernumerary ribs, Hypoplasia of penis, Hemivertebrae, Camptodactyly of finger, Short neck, Scol... ORPHA:99776
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Thoracoabdominal Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Hypospadias, Anencephaly, Ventral hernia, Omphalo... OMIM:313850
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pelvis, Ambi... OMIM:616300
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Wormian bone... ORPHA:2097
Waardenburg Syndrome Type 1
Spina bifida, Scoliosis, Meningocele ORPHA:894
Autosomal Dominant Omodysplasia
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Bifid scrotum ORPHA:93328
Thanatophoric Dysplasia, Type I
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
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:2772
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias ORPHA:276422
Joubert Syndrome 15
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
Congenital pseudoarthrosis of the clavicle, Cervical ribs, Osteoarthritis ORPHA:66630
Phaver Syndrome
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
Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Abnormality of the vertebral ... OMIM:276950
Neu-Laxova Syndrome
External genital hypoplasia, Flexion contracture, Scoliosis, Polymicrogyria, Abnormal cortical gy... ORPHA:2671
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Neural tube defect OMIM:600776
Melnick-Needles Syndrome
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
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
3M Syndrome
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Enlarged thorax, Thin ribs,... ORPHA:2616
Trisomy 18
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
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
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
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
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Vater/Vacterl Association
Tethered cord, Hypoplasia of the radius, Preaxial polydactyly, Hypospadias, Scoliosis, Syndactyly... OMIM:192350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Death in infancy, Umbilical hernia, Omphalocele ORPHA:2241
Scarf Syndrome
Diastasis recti, Short sternum, Inguinal hernia, Craniosynostosis, Micropenis, Bifid scrotum, Sho... ORPHA:3134
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ili... OMIM:245190
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Lateral clavicle hook, Short femur, Undulate ribs, Femoral bowing, ... OMIM:211350
Fryns Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, ... ORPHA:2059
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Short hum... OMIM:314390
Cleidocranial Dysplasia
Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders,... ORPHA:1452
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Platyspondyly, C1-C2 subluxation, Hip subluxation, Posterior rib... OMIM:271665
Tibial Hemimelia
Hemivertebrae, Radial club hand, Ambiguous genitalia, Aplasia of the 2nd metacarpal, Absent hallu... ORPHA:93322
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, Slender long bone,... OMIM:259420
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Hallermann-Streiff Syndrome
Thin ribs, Metaphyseal widening, Scoliosis, Wormian bones, Slender long bone, Hyperlordosis, Cryp... OMIM:234100
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Caudal Regression Syndrome
Ambiguous genitalia, Cryptorchidism, Arrhinencephaly ORPHA:3027
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Fetal Trimethadione Syndrome
Ambiguous genitalia, Hypospadias ORPHA:1913
Cantú Syndrome
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
Acetabular spurs, Absent tibia, Metaphyseal spurs, Lateral clavicle hook, Short ribs, Postaxial p... OMIM:613091
Orofaciodigital Syndrome Iii
Kyphosis, Pectus excavatum, Short sternum, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:258850
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short distal phalanx of finger, Hypoplastic sacrum, Small hand, Cone-shaped epiphysis, Oligosperm... OMIM:614813
Lead Poisoning
Infertility, Miscarriage, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormalit... ORPHA:330015
Mucopolysaccharidosis Type 7
Inguinal hernia, Abnormal hip bone morphology, Anterior beaking of lumbar vertebrae, Short neck, ... ORPHA:584
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Wormian bones, Short tubular bones of the hand, Vertebral arch anomaly, Broad... ORPHA:85184
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary cavity of the lo... ORPHA:93324
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Finger syndactyly ORPHA:2145
Enlarged Parietal Foramina
Myelomeningocele, Short clavicles, Craniosynostosis, Broad thumb, Occipital encephalocele ORPHA:60015
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Umbil... OMIM:265000
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Platyspo... ORPHA:93317
Non-Syndromic Anorectal Malformation
Myelomeningocele, Hemisacrum, Tethered cord, Hemivertebrae, Hypospadias, Persistent cloaca, Recto... ORPHA:557
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Adrenocorticotropic hormone excess, Ambiguous genitalia, male, Male ... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Precocious puberty, Premature thelarche, Isosexual precocious pubert... ORPHA:90795
Pyknoachondrogenesis
Enlarged thorax, Abnormal iliac wing morphology, Unossified sacrum, Short ribs, Hypoplastic ischi... ORPHA:3003
Immunodeficiency, Common Variable, 1
Impaired T cell function, Decreased circulating IgA level, Decreased circulating IgG level, Decre...