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Gene: Wnt7a MGI:98961

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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:
wingless-type MMTV integration site family, member 7A
Synonyms:
tw,  Wnt-7a

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 Wnt7a 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.

The table below shows human diseases associated to Wnt7a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Ectrodactyly, Abnormal tibia morphology, Foot oligodac... ORPHA:2879
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820

The table below shows human diseases predicted to be associated to Wnt7a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal metaphysis morphology, ... ORPHA:1040
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Vertebral segmentation de... ORPHA:1570
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit... ORPHA:2141
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... ORPHA:166016
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Bardet-Biedl Syndrome 11
Hypogonadism, Polydactyly OMIM:615988
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... OMIM:164900
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... OMIM:601438
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Ectrodactyly, Abnormal tibia morphology, Foot oligodac... ORPHA:2879
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Limited knee flexion/extension, Short tibia, Structural foot d... ORPHA:93323
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,... ORPHA:3104
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila... ORPHA:1972
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Uterus didelphys, Abnormality of the wrist, Short humerus, Split hand, Aplasia/Hypopl... ORPHA:2491
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Arachnodactyly, Humeroradial synostosis OMIM:614416
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri... OMIM:612447
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Squared iliac bones, Abnormal form of the vertebral bodies, Abn... ORPHA:3344
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Abnormal metac... ORPHA:3266
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho... ORPHA:1837
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormality o... ORPHA:3130
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm... OMIM:227270
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Broad-based gait, Short femoral neck, Short humerus, Talipes equinovarus, Na... OMIM:616716
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Talipes equin... OMIM:609441
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Abnormal tibia morphology,... ORPHA:2639
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... OMIM:201170
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Fibrochondrogenesis 1
Thin ribs, Small hand, Hypoplastic scapulae, Joint contracture of the hand, Broad long bones, Sho... OMIM:228520
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl... ORPHA:2831
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Bardet-Biedl Syndrome 5
Hypogonadism, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Satoyoshi Syndrome
Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of the hand, Brachydactyly, Short me... OMIM:600705
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... ORPHA:52056
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Anterior pituita... OMIM:181450
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Seckel Syndrome 7
Madelung deformity, Primary amenorrhea, Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia... OMIM:614851
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820
Ulnar Hemimelia
Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Abnormal... ORPHA:93320
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... OMIM:619217
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... ORPHA:2633
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibul... ORPHA:958
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Spermatogenic Failure 17
Male infertility OMIM:617214
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Radioulnar synostosis, Dislocated radial head OMIM:266255
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Aplasia/hypoplasia involving bones of the upper limbs, Short humerus, Hyp... ORPHA:75508
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Toe syndactyly, Aplasia/Hypoplasia of the distal... ORPHA:3246
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... OMIM:164745
Radial Hemimelia
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... ORPHA:93321
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Acrorenal Syndrome
Abnormal tibia morphology, Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna ORPHA:971
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, ... ORPHA:3320
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619665
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Decreased fertility, Abnormal morphology of ulna, Short neck, Abnormal metacarpal m... ORPHA:2233
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Bardet-Biedl Syndrome 10
Hypogonadism, Polydactyly OMIM:615987
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Oligodact... ORPHA:3258
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... OMIM:618150
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Encephalocel... OMIM:108720
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Tetrasomy X
Premature ovarian insufficiency, Radioulnar synostosis, Brachydactyly, Hip dysplasia, Clinodactyl... ORPHA:9
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Narrow pelvis bone, Long hallu... OMIM:600002
Bardet-Biedl Syndrome 7
Clinodactyly, Hypogonadism, Polydactyly, Postaxial polydactyly, 2-3 toe syndactyly OMIM:615984
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly OMIM:176305
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ... ORPHA:3144
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,... OMIM:609616
Perrault Syndrome 4
Cubitus valgus, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased circulatin... OMIM:615300
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Lower limb asymmetry, Genu valgum, Metaphyseal enchondromatosis, Ve... ORPHA:85198
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Otoonychoperoneal Syndrome
Ankle flexion contracture, Hip contracture, Knee flexion contracture, Straight clavicles, Aplasia... OMIM:259780
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Kyphomelic Dysplasia
Narrow chest, Micromelia, Abnormal form of the vertebral bodies, Micrognathia, Undulate ribs, Bow... ORPHA:1801
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly OMIM:241000
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
ERI1-related disease
Platyspondyly, Pectus carinatum, Narrow chest, Slender metacarpals, Oligodactyly, Clinodactyly of... OMIM:608739
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, Kyphosis, 11 pairs of ribs, Femoral bowing, Micro... ORPHA:140
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the radius, Microretrognathia, Oligodactyly, Abnormality of the wrist, Cryp... ORPHA:1307
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Short palm ORPHA:93328
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... OMIM:251230
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Cubitus valgus, Brachydactyly, Primary amen... ORPHA:247768
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Exostoses, Multiple, Type Ii
Cervical myelopathy, Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, ... OMIM:133701
Exostoses, Multiple, Type I
Cervical myelopathy, Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, ... OMIM:133700
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi... OMIM:200980
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Seckel Syndrome 1
Ivory epiphyses, Hip dislocation, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contra... OMIM:210600
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Primary amenorrhea, Aplasia of ... OMIM:273250
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... OMIM:208500
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectovaginal fistula ORPHA:3016
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Abnormality of the uterus, Camptodactyly of finger, Breast aplasi... ORPHA:3138
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Micromelia, Abnormal epiphysis morph... ORPHA:93351
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly OMIM:225290
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Rhizomelia, Hypoplastic scapulae, Flared metaphysis, Delayed ossification of pubic rami, Microgna... OMIM:602471
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Reduced sperm motility, Proximal fe... OMIM:602271
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor... ORPHA:93307
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Bel... OMIM:260660
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Oligodactyly, Abnormality of the hand, Pes planus, Frontal encephalo... ORPHA:521308
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Amed Syndrome, Digenic
Hypoplasia of the uterus, Long thumb OMIM:619151
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Irregular epiphyses, Posterior... OMIM:608728
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... OMIM:223800
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Short palm, Flat acetabular ... OMIM:300106
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Micromelia, C... ORPHA:474
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy... ORPHA:432
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Talipes equinovarus, ... ORPHA:2839
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Bardet-Biedl Syndrome 4
Hypogonadism, Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar... OMIM:268305
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Metatropic Dysplasia
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical v... ORPHA:2635
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia, Mesomelic arm... OMIM:249710
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Micromelia, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Hypertension And Brachydactyly Syndrome
Type E brachydactyly, Short phalanx of finger, Short metacarpal, Cone-shaped epiphysis OMIM:112410
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Limb-Mammary Syndrome
Absent nipple, Toe syndactyly, Breast aplasia, Oligodactyly, Aplasia of the ovary, Aplasia of the... ORPHA:69085
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici... OMIM:241080
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad femoral neck, Irregular epiphyses, A... OMIM:132400
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Micrognath... OMIM:211350
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Short femoral neck, Knee dislocation, Narrow vertebral interpedicular d... OMIM:618395
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic acetabulae, ... OMIM:607326
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Narrow chest, Short tibia, Preaxial polydactyly, Hypoplastic pelvi... OMIM:616300
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... ORPHA:2790
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... ORPHA:1856
Bardet-Biedl Syndrome 22
Hypogonadism, Postaxial foot polydactyly, Polydactyly OMIM:617119
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Estrogen Resistance
Breast aplasia, Primary amenorrhea, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, M... OMIM:184250
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Laron Syndrome
Delayed menarche, Limb undergrowth, Short long bone OMIM:262500
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Narrow palm, Hypogonadotropic hypogonadism, Short foot, Abnormal ulnar metaphysis mor... ORPHA:177910
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S... ORPHA:3464
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped... ORPHA:420794
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Clinodactyly, Enlarged labia minora, Micrognathia, Cryptorchidism, Abnormal... OMIM:268300
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Breast hypoplasia, Enlarged polycystic ovaries, Primary amenorrh... ORPHA:785
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... OMIM:614524
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma... ORPHA:392
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Aplasia of the ulna OMIM:276822
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... OMIM:184252
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease OMIM:218550
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, H... ORPHA:2256
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Septate va... ORPHA:1319
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Sandal gap, Kn... OMIM:108721
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Radial bowing, Madelung deformity DECIPHER:58
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Preaxial polydactyly, Micrognathia, Horizontal ribs, Long thorax, Fibu... OMIM:617925
Radial Aplasia, X-Linked
Penile hypospadias, Absent radius OMIM:312190
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... ORPHA:2319
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of f... ORPHA:2928
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Aplasia/Hypoplas... ORPHA:2911
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus, Rocker bottom foot, Micrognathia OMIM:616258
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Reduced arm span, Arthralgia of the hip, Abnormality o... ORPHA:166002
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Hip dislo... OMIM:146510
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Hypoplastic labi... OMIM:263650
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot... OMIM:250420
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Preaxial polydactyly, Should... OMIM:607323
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal humeral epiph... OMIM:222765
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Metaphyseal cupping, Hypoplastic scapulae, Narrow ... ORPHA:85166
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Vertebral wedging, Thoracic hypop... OMIM:617866
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec... OMIM:602557
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Multiple Osteochondromas
Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the lo... ORPHA:321
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Micromelia, Flar... OMIM:187601
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Preaxial polydactyly ORPHA:141333
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Umbilical hernia,... OMIM:258315
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Desbuquois Syndrome
Genu recurvatum, Small hand, Patellar dislocation, Elbow dislocation, Camptodactyly of finger, Be... ORPHA:1425
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... OMIM:173800
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Diastrophic Dysplasia
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Micromelia, Abnormal epiphysis morphol... ORPHA:628
Kinsship Syndrome
Mesomelia, Cervical ribs, Sacral dimple, Micrognathia, Single transverse palmar crease, Polydacty... OMIM:619297
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testicular size, De... ORPHA:90796
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals OMIM:618724
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol... ORPHA:93267
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... OMIM:250220
46,Xy Sex Reversal 4
Gonadal dysgenesis, Micrognathia, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, ... OMIM:154230
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Joint contracture of the hand, Straight clavicles, Broad ribs, Fibular ap... OMIM:300373
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Lumbar kyphosis in infancy, Fe... OMIM:100800
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o... OMIM:607143
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Short thumb, Ectrodactyly, Elbow dislocation, Oligodactyly, Absent hand, Ameli... ORPHA:2538
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovarus, H... OMIM:119500
Bardet-Biedl Syndrome 9
Irregular menstruation, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydac... OMIM:615986
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Bardet-Biedl Syndrome 8
Hypogonadism, Postaxial polydactyly OMIM:615985
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos... OMIM:112350
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn... ORPHA:3035
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Flared metaphysis, Equinovarus deformity, Short long bone, Aplasia/Hypoplasia ... ORPHA:2502
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Proximal placement of thumb, Short humerus, Absent radius OMIM:314390
3M Syndrome
Thin ribs, Decreased fertility, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increas... ORPHA:2616
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dis... OMIM:620662
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact... OMIM:154400
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Cone-shaped epiphysis, Short long bone, Short foot, Short phal... OMIM:102370
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... OMIM:602418
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... OMIM:620076
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Narrow chest, Short toe, Clinodactyly, Radial deviati... OMIM:218330
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... OMIM:605432
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... OMIM:277170
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Oligodactyly, Clinodactyly of the 5th finger, Short foot, Umbilical hernia OMIM:619758
Holzgreve Syndrome
Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, Abnormal rib morph... ORPHA:2167
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... OMIM:271665
Becker Nevus Syndrome
Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib fusion, Supern... ORPHA:64755
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Hip dislocation, Flared metaphysis, Genu va... OMIM:309350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplastic pelvis, Micrognathia, Adrenal gland agenesis, Tetraamelia,... OMIM:273395
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Femoral bowing, Micrognathia, Dumbbel... ORPHA:440354
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... OMIM:210720
Aromatase Deficiency
Delayed epiphyseal ossification, Female infertility, Male infertility, Ambiguous genitalia, femal... ORPHA:91
Bardet-Biedl Syndrome 16
Hypogonadism, Polydactyly OMIM:615993
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh... OMIM:600373
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... OMIM:251450
Renal And Mullerian Duct Hypoplasia
Micrognathia, Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Whim Syndrome 1
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia OMIM:193670
Autosomal Recessive Omodysplasia
Rhizomelia, Micromelia, Elbow dislocation, Abnormal femur morphology, Micrognathia, Abnormal morp... ORPHA:93329
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... ORPHA:83468
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Oslam Syndrome
Radioulnar synostosis, Radial deviation of finger, Clinodactyly OMIM:165660
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... OMIM:300863
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas ORPHA:145
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology... ORPHA:251014
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Short lower limbs, Sco... OMIM:259440
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth... ORPHA:93352
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Nephronophthisis 15
Polydactyly OMIM:614845
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Male infertility, Cryptorchidism, Absent radius, Hypergonadotropic hyp... OMIM:227650
Nievergelt Syndrome
Genu valgum, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal synostosis, ... OMIM:163400
Camptobrachydactyly
Short toe, Septate vagina, Hand polydactyly, Brachydactyly, Congenital finger flexion contracture... OMIM:114150
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Panner Disease
Limited elbow extension, Abnormality of upper limb joint, Limited elbow movement, Irregular artic... ORPHA:97336
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Hypoplasia of t... ORPHA:2249
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Short distal phalanx of finger, Hypoplasia... OMIM:615866
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Hypomelia With Mullerian Duct Anomalies
Split hand, Uterus didelphys, Longitudinal vaginal septum, Postaxial hand polydactyly OMIM:146160
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... ORPHA:3082
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Martsolf Syndrome 1
Pectus carinatum, Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Avascular necrosis... OMIM:212720
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypospadias, Hypoplasia of the radius OMIM:179250
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... OMIM:253000
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Finger clinodactyly, Camptodactyly of finger, Elbo... ORPHA:3250
Fanconi Anemia, Complementation Group L
Absent thumb, Hypoplastic sacrum, Micrognathia, Aplasia of the uterus, Absent radius, Micropenis,... OMIM:614083
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Thoracic hypopla... OMIM:187600
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Dry skin, Short humerus, Brachydactyly, Short metacarpal ORPHA:508542
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Pallister-Hall Syndrome
Small scrotum, Toe syndactyly, Broad thumb, Radial bowing, Hydrometrocolpos, Hypopituitarism, Pol... ORPHA:672
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Chromosome 8Q22.1 Duplication Syndrome
Short stepped shuffling gait, Broad thumb, Short thumb, Interphalangeal joint contracture of fing... OMIM:151200
Achondrogenesis Type 1B
Narrow chest, Micromelia, Abnormal rib morphology, Umbilical hernia, Micrognathia, Talipes equino... ORPHA:93298
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies, Male hypogonadism, Hypergonadotropic h... OMIM:307500
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat... OMIM:300232
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, ... OMIM:618419
Hand-Foot-Genital Syndrome
Ulnar deviation of the 2nd finger, Chordee, Short hallux, Small thenar eminence, Hypospadias, Sho... OMIM:140000
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... ORPHA:2876
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga OMIM:132450
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Cryptorchidism, Bilateral single tra... ORPHA:199
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ... ORPHA:429
Van Den Ende-Gupta Syndrome
Thin ribs, Long metacarpals, Hypoplastic scapulae, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Baller-Gerold Syndrome
Radial deviation of the hand, Absent thumb, Forearm undergrowth, Patellar hypoplasia, Carpal syno... OMIM:218600
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Postaxial polydactyly, Y-sh... OMIM:615996
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Lumba... OMIM:169550
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Hypogonadism, Decrea... ORPHA:2234
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul... OMIM:212780
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Short humerus, Lateral femoral bowing OMIM:239000
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the... OMIM:614900
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Orofaciodigital Syndrome Xvii
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... OMIM:617926
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Micromelia ORPHA:2252
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Elevated circulating lu... ORPHA:90793
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Short thumb, Supernumerary vertebrae, Abnormal foot morphology, Micro... OMIM:263750
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bone ORPHA:1423
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Cryptorchidism, Absent radius, Hypergonadotropic hypogonadism, Complet... OMIM:600901
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s... ORPHA:93317
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Hypogonadism, Micropenis, Hypergonadotropic hypogonadism OMIM:300514
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ... ORPHA:1797
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Micrognathia, Limited elbow extension, Irregular epiphyses of the metacar... OMIM:614078
Image Syndrome
Hypogonadism, Micromelia, Metaphyseal dysplasia ORPHA:85173
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Platyspondyly, Dumbbell-shaped femur, Sandal... ORPHA:1427
Ulbright-Hodes Syndrome
Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostos... ORPHA:3404
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Anisospondyly, Narrow chest, Abnormal rib morpho... ORPHA:2484
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Micro... OMIM:616145
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility OMIM:108420
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Femoral-Facial Syndrome
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Absent vertebra, Preaxial hand po... OMIM:134780
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Postaxial hand polydactyly ORPHA:2155
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly,... OMIM:615994
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Non-obstructive azoosp... OMIM:618086
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Cryptorchidism,... OMIM:619135
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone OMIM:619479
Smith-Mccort Dysplasia 2
Hypoplasia of the odontoid process, Broad femoral neck, Enlarged interphalangeal joints, Genu val... OMIM:615222
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Micrognat... ORPHA:2097
Ruvalcaba Syndrome
Small hand, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short phalanx of f... OMIM:180870
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Delayed epiphyseal ossification, Elbow dislocation, Dry skin, Micrognathia, ... OMIM:210710
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta... OMIM:617895
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... OMIM:143095
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration, Limb undergrowth, Abnormal limb bone morphology ORPHA:2204
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Joubert Syndrome 23
Polydactyly OMIM:616490
Achondrogenesis Type 1A
Narrow chest, Micromelia, Umbilical hernia, Micrognathia, Multiple rib fractures, Short neck, Sho... ORPHA:93299
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Abnormal rib m... ORPHA:2311
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnormality of the vert... ORPHA:1328
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Tapered finger, Short humerus, Short femur OMIM:618367
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta... ORPHA:85167
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short neck, Supernumerary rib... OMIM:122600
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth OMIM:614209
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Abnormal rib morphology, Spi... ORPHA:2475
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Polydactyly, Unsteady gait, Dystonia, Choreoathetosis, Short femur ORPHA:17
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Abnormal rib morphology, Spinal c... ORPHA:582
Jackson-Weiss Syndrome
Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3... ORPHA:1540
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs, Rhizomelia, Metaphyseal cupping of metacarpals, Abnormality of the calc... ORPHA:163966
Mosaic Trisomy 14
Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Bilateral single trans... ORPHA:1703
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Lumbar Syndrome
Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M... ORPHA:83628
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Microretrognathia, Micrognathia, Bowing of t... OMIM:619879
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th... ORPHA:570
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath... OMIM:256050
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordos... ORPHA:2522
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Talipes equinovalgus, Abn... ORPHA:1120
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... ORPHA:572333
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Anterior encephalocele, Scoliosis, Short femur OMIM:601357
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Limited elbow extension, Bowing of the legs ORPHA:156728
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Broad femoral neck, Flared metaphysis, Camptodactyly of finger, Th... OMIM:612350
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Absent or minimally ossified verteb... ORPHA:1190
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Femoral bowing, G... OMIM:600785
Fibrous Dysplasia Of Bone
Lower limb asymmetry, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal tibia morph... ORPHA:249
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Cryptorchidism, Absent radius, Hypergonadotropic hypogonadism, Complet... OMIM:227645
Dyschondrosteosis-Nephritis Syndrome
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity ORPHA:1765
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... OMIM:258860
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius OMIM:602200
Acrocephalopolydactyly
Limb undergrowth, Brachydactyly, Short long bone ORPHA:221054
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Constricted iliac wing, Cervical myelopathy, Hypoplasia of the odontoid process, H... OMIM:253010
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... OMIM:618022
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, External genital hypoplasia, Cryptorchidism, Hypoplasia of the radius,... OMIM:613390
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae... ORPHA:2180
Odontochondrodysplasia 1
Mesomelia, Metaphyseal cupping, Micromelia, Irregular epiphyses, Cone-shaped epiphyses of the pha... OMIM:184260
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger OMIM:607131
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Fanconi Anemia, Complementation Group D2
Annular pancreas, Absent thumb, Short thumb, Preaxial hand polydactyly, Cryptorchidism, Partial d... OMIM:227646
Occipital Horn Syndrome
Genu valgum, Limited elbow extension, Redundant skin, Short humerus, Short clavicles, Capitate-ha... OMIM:304150
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... ORPHA:2347
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Bulging epiphyses, Bulging of the costochondral junction, Fibula... OMIM:600081
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Slender long bone, Abnormal hip bone morphology, Micrognat... ORPHA:1486
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Single transverse palmar crease, Ovotestis, Chordee, Micropenis, Hypoplasia... OMIM:309801
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... OMIM:118100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Metaphyseal cupping, Scoliosis, Flared metaphysis, Short finger, Femor... OMIM:608940
Osteogenesis Imperfecta, Type X
Platyspondyly, Thin ribs, Rhizomelia, Narrow chest, Micromelia, Thoracic hypoplasia, Broad ribs, ... OMIM:613848
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:607361
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera... OMIM:601356
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology ORPHA:2643
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism OMIM:240950
Joubert Syndrome 16
Polydactyly OMIM:614465
Townes-Brocks Syndrome 2
Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias OMIM:617466
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Mietens Syndrome
Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Talipes, Elbow ankylosis,... ORPHA:2557
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving the shoulder musculature, Aplasia/Hypoplasia involving bones of the ... ORPHA:1521
Dysosteosclerosis
Short diaphyses, Platyspondyly, Narrow chest, Broad femoral neck, Absent paranasal sinuses, Flare... OMIM:224300
Distal Duplication 5Q
Absent thumb, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Brachydactyly,... ORPHA:96097
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Abno... ORPHA:1452
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Long palm, Arachnodactyly, Missing ribs, Hemivertebrae, Ab... ORPHA:2759
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Hypoplasia of proximal radius, Micrognathia, Fibular h... ORPHA:444077
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Broad phalanx, Bila... ORPHA:56304
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyl... ORPHA:1352
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Rhizomelia, Microretrognathia, Narrow chest, Bowing of the long bones, Multiple ri... OMIM:616229
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Abnormal sperm head morphology, Reduced sperm motility ORPHA:320391
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Bowing of ... OMIM:617952
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Spinal can... OMIM:307800
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... OMIM:605282
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Joint contracture of the hand, Carpal synostosis, Cryptorchi... OMIM:201750
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Classic Galactosemia
Ataxia, Postural tremor, Gait imbalance, Action tremor, Decreased fertility in females, Oligomeno... ORPHA:79239
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Marshall Syndrome
Platyspondyly, Hypoplastic ilia, Radial bowing, Irregular femoral epiphysis, Clinodactyly of the ... OMIM:154780
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Supernumerary ribs, Pes planus, Scapular winging, Six lumbar vertebrae, Pectus exca... OMIM:619122
Bardet-Biedl Syndrome 12
Hypogonadism, Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Radial-Renal Syndrome
Absent thumb, Absent radius OMIM:179280
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi... OMIM:614091
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... OMIM:271640
Joubert Syndrome 18
Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polydactyly, Camptodactyly OMIM:614815
Mycetoma
Structural foot deformity, Abnormal forearm bone morphology, Abnormal form of the vertebral bodie... ORPHA:2583
Achondrogenesis, Type Ii
Microretrognathia, Abnormal foot morphology, Short tubular bones of the hand, Hypoplastic iliac w... OMIM:200610
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular necrosis of th... OMIM:190351
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Micrognathia, Brachydactyly, Split hand, Abnormal rib morphology ORPHA:2145
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Bowing of the long bones, Abnormal rib morph... ORPHA:2050
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Garg-Mishra Progeroid Syndrome
Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Slender metacarpals, Micrognathia, Ovo... OMIM:620601
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... ORPHA:2307
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Missing ribs, Abnormal r... ORPHA:1488
Senior-Loken Syndrome 9
Hypogonadism, Polydactyly, Hypoplasia of the femoral head OMIM:616629
Hypophosphatasia
Bowing of the long bones, Narrow chest, Abnormal metaphysis morphology, Abnormal rib morphology ORPHA:436
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Adams-Oliver Syndrome 6
Foot oligodactyly, Brachydactyly, Syndactyly OMIM:616589
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca... OMIM:617247
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia OMIM:277150
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Micrognathia, Chordee, Abnormal intern... ORPHA:1772
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Deep plantar crea... ORPHA:1517
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi... OMIM:618961
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Clubbing, Male infertility ORPHA:244
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
47,Xyy Syndrome
Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulat... ORPHA:8
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Micromelia, Femoral retroversion, Scoliosis, Kyphosis ORPHA:79107
Three M Syndrome 2
Short 5th finger, Thin ribs, Pectus carinatum, Clinodactyly, Slender long bone, Lumbar hyperlordo... OMIM:612921
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Premature ovarian insufficiency, Female infertility OMIM:619518
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation ORPHA:1508
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Femoral bowing, Osteosclero... OMIM:602080
Joubert Syndrome 27
Polydactyly OMIM:617120
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Stenosis of the medullary cavity of the long bones, Cortical thickening of... ORPHA:93324
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, Partial absence of thumb, Micrognathia, 2-3 toe syndactyly, Abnormalit... ORPHA:476126
Wiedemann-Rautenstrauch Syndrome
Hypoplastic ilia, Clinodactyly, Slender long bone, Premature skin wrinkling, Dry skin, Micrognath... OMIM:264090
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility OMIM:615500
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Cryptorchidism, H... ORPHA:84
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Azoospermia, Abnormal rib morphology, Vertebral segmentation defect ORPHA:2578
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Thin ribs, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Tibial bowi... OMIM:610915
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly OMIM:602501
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Crane-Heise Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Finger s... ORPHA:1512
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Micrognathi... ORPHA:3429
Microphthalmia, Syndromic 9
Micrognathia, Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism OMIM:601186
Oeis Complex
Congenital hip dislocation, Absence of the sacrum, Myelomeningocele, Ambiguous genitalia, female,... OMIM:258040
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas deferens, Epididymal cyst, Reduced sperm m... OMIM:137920
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Polydactyly, Dysmenorrhea, Clinodactyly of the 5th finger, Syndac... ORPHA:397590
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... OMIM:613686
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph... ORPHA:79345
Stuve-Wiedemann Syndrome 1
Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes,... OMIM:601559
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tubular bones ... ORPHA:85184
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, 10 pairs o... OMIM:117650
Prune Belly Syndrome
Congenital hip dislocation, Decreased fertility, Vertebral segmentation defect, Talipes equinovar... ORPHA:2970
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Chordee, Bro... OMIM:166250
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali... OMIM:618142
Al-Gazali Syndrome
Broad distal phalanx of finger, Micrognathia, Bowed humerus, Wrist flexion contracture, Bilateral... OMIM:609465
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Spermatogenic Failure 13
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615841
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Narrow chest, Narrow pelvis bone, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachnod... OMIM:207410
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... OMIM:192350
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal hip bone morphology, Hypogonadotropic hypogonadism, Hyperlordosis, Abn... ORPHA:3068
Osteogenesis Imperfecta, Type Iii
Thin ribs, Slender long bone, Micrognathia, Biconcave vertebral bodies, Tibial bowing, Scoliosis,... OMIM:259420
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Reduced sperm motility OMIM:612650
Sirenomelia
Aplasia/Hypoplasia of the radius, Absence of the sacrum, Sirenomelia, Ambiguous genitalia, Spina ... ORPHA:3169
Campomelia, Cumming Type
Clubbing of toes, Micromelia, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly... ORPHA:1318
Wiedemann-Rautenstrauch Syndrome
Ataxia, Hypoplastic ilia, Camptodactyly of finger, Premature skin wrinkling, Action tremor, Short... ORPHA:3455
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Short toe, Rhizo-meso-acromelic limb shortening, Tapered phalanx... OMIM:611717
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Bifid scrotum, Abno... ORPHA:887
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Micrognathia, Hypoplasia of the... ORPHA:246
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod... OMIM:619721
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Postaxial hand po... OMIM:614175
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Abnormal epiphysis morphology, Epiphyseal stippling, Limb undergrowth, Abnormal metap... ORPHA:177
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... OMIM:225500
Radio-Renal Syndrome
Micromelia, Abnormal form of the vertebral bodies, Micrognathia, Short neck, Hypoplasia of the ra... ORPHA:3015
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Xylt1-Cdg
Broad thumb, Clinodactyly, Flared metaphysis, Broad ribs, Short clavicles, Pes planus, Short long... ORPHA:370930
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of the uterus, Hip dysplasia,... ORPHA:457284
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Plantar pits, Vertebral wedging, Abnormal rib morphol... ORPHA:377
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Micrognathia, Clinodactyly ORPHA:357175
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod... ORPHA:85165
Microcephalic Primordial Dwarfism, Dauber Type
Madelung deformity, Limb undergrowth, Primary amenorrhea, Clinodactyly of the 5th finger, Hip dys... ORPHA:319675
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Premature fusion of the radial e... ORPHA:90794
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Alagille Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Micrognathia, Cryptorchidism, Hyp... ORPHA:52
Duane Retraction Syndrome
Preaxial hand polydactyly, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Tr... ORPHA:233
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis OMIM:607371
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Abnormal sternum... OMIM:109400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Clinodactyly, Decreased fertility, Humerorad... ORPHA:95699
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Primary amenorrhea, Dislocated rad... ORPHA:2975
Pelger-Huet Anomaly
Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Polydactyly, Short 4th metaca... OMIM:169400
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... OMIM:252600
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Slender long bone, Long clavicles, Short foot, Thin clavicles, Short palm OMIM:244460
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypoplasia, D... ORPHA:478
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Short thumb, Lacrimal gland hypoplasia, Preaxial polydactyly, Abs... OMIM:149730
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Micrognathia, Clinodactyly OMIM:615162
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Split hand, Phocomelia ORPHA:3004
Achondroplasia
Rhizomelia, Hip joint hypermobility, Trident hand, Limited elbow extension, Narrow greater sciati... ORPHA:15
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Umbilical hernia, Aplasia of... OMIM:308050
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Platyspondyly, Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpa... OMIM:610442
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Sho... OMIM:215150
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Broad ribs, Genu valgum, Short neck, Abnormal metaphysis morphology, Kyphos... ORPHA:583
Sclerosteosis 1
Irregular menstruation, Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of fin... OMIM:269500
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Meckel Syndrome, Type 8
Talipes equinovarus, Polydactyly OMIM:613885
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly OMIM:611560
Oslam Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger ORPHA:2760
Chromosome 17Q12 Deletion Syndrome
Upper limb undergrowth, Micrognathia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasi... OMIM:614527
Craniometadiaphyseal Dysplasia
Absent paranasal sinuses, Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Cubitus v... OMIM:269300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly... OMIM:263520
X-Linked Hypophosphatemia
Flattening of the talar dome, Shortening of the talar neck, Rachitic rosary, Abnormal epiphysis m... ORPHA:89936
Renpenning Syndrome
Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th fin... ORPHA:3242
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Abnormal vertebr... OMIM:600383
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Aplasia/Hypoplasia of the radius, Female pseudohermaphroditism, Displacement of the urethral meat... ORPHA:2973
W Syndrome
Radial bowing, Clinodactyly, Elbow dislocation, Cubitus valgus, Hypoplasia of the ulna, Metatarsu... ORPHA:2804
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Ectrodactyly, ... ORPHA:2273
3Q29 Microdeletion Syndrome
Pectus carinatum, Six lumbar vertebrae, Clinodactyly of the 5th finger, Pectus excavatum, Tapered... ORPHA:65286
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Genu valgum, Abnormal morphology of ulna, Cubitus valgus, Short neck, D... ORPHA:1340
Peters-Plus Syndrome
Square pelvis bone, Micrognathia, Cryptorchidism, Limited elbow movement, Hypoplastic labia major... OMIM:261540
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Narrow chest, Short toe, Short finger, Thoracic dysplasia, Bowing of the ar... OMIM:269860
Townes-Brocks Syndrome 1
Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectova... OMIM:107480
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Cryptorchidism... ORPHA:3103
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Abnormal rib morphology, E... ORPHA:2769
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Femoral bowing, Arachnodactyly, Talipes, Elbow ankylosis, ... ORPHA:83
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Anen... OMIM:236680
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility OMIM:612649
Pyknoachondrogenesis
Unossified sacrum, Short iliac bones, Micromelia, Horizontal ribs, Short ribs, Aplastic pubic bon... ORPHA:3003
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Hip dislocation, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, ... OMIM:620663
Charge Syndrome
Micrognathia, Cryptorchidism, Absent radius, Hypoparathyroidism, Bilateral talipes equinovarus, H... OMIM:214800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... ORPHA:2237
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Lethal Congenital Contracture Syndrome 10
Narrow chest, Broad ribs, Overlapping fingers, Micrognathia, Femoral bowing, Thoracic scoliosis, ... OMIM:617022
Turner Syndrome Due To Structural X Chromosome Anomalies
Genu valgum, Micrognathia, Short neck, Pes planus, Splayed toes, Primary amenorrhea, Premature ov... ORPHA:99413
Mosaic Monosomy X
Genu valgum, Micrognathia, Short neck, Pes planus, Splayed toes, Primary amenorrhea, Premature ov... ORPHA:99228
Monosomy X
Genu valgum, Micrognathia, Short neck, Pes planus, Splayed toes, Primary amenorrhea, Premature ov... ORPHA:99226
Turner Syndrome
Genu valgum, Micrognathia, Short neck, Pes planus, Splayed toes, Primary amenorrhea, Premature ov... ORPHA:881
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility OMIM:615444
Rothmund-Thomson Syndrome Type 1
Patellar hypoplasia, Hypogonadism, Plantar hyperkeratosis, Metaphyseal sclerosis, Patellar aplasi... ORPHA:221008
Multiple Pterygium Syndrome, Escobar Variant
Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia, Arachnodactyly, Talip... OMIM:265000
Houge-Janssens Syndrome 2
Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia OMIM:616362
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm OMIM:613808
Mosaic Trisomy 8
Narrow chest, Deep plantar creases, Camptodactyly of finger, Micrognathia, Patellar aplasia, Vert... ORPHA:96061
Cloacal Exstrophy
Myelomeningocele, Abnormal tibia morphology, Talipes equinovarus, Abnormal fallopian tube morphol... ORPHA:93929
Cardioacrofacial Dysplasia 2
Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Postaxial hand polydact... OMIM:619143
Suleiman-El-Hattab Syndrome
Brachydactyly, Clinodactyly, Single transverse palmar crease, Polydactyly OMIM:618950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Pectus carinatum, Cervical myelopathy, Hypoplasia of the odontoid process, ... OMIM:253200
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Congeni... ORPHA:435638
Neu-Laxova Syndrome 1
Hydranencephaly, Toe syndactyly, Joint contracture of the hand, Finger syndactyly, Clinodactyly, ... OMIM:256520
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Genu recurvatum, Pectus carinatum, Narrow chest, Flared metaphysis, Talipes equinovalgus, Microgn... OMIM:130070
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Peters Plus Syndrome
Rhizomelia, Toe syndactyly, Short toe, Micromelia, Umbilical hernia, Clinodactyly of the 5th fing... ORPHA:709
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Abnormal rib morphology ORPHA:2772
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Talipes, Missing r... ORPHA:1647
Occipital Horn Syndrome
Aplastic clavicle, Avascular necrosis of the capital femoral epiphysis, Humerus varus, Genu valgu... ORPHA:198
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar... ORPHA:2215
Trisomy 13
Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Abnormal rib morphology, Bila... ORPHA:3378
Renal Agenesis, Bilateral
Sirenomelia, Abnormal morphology of female internal genitalia ORPHA:1848
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Micrognathia, Vert... ORPHA:1834
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog... ORPHA:1422
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process,... OMIM:272460
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology ORPHA:280195
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... OMIM:211750
Vacterl With Hydrocephalus
Absence of the sacrum, Micrognathia, Cryptorchidism, Abnormal fallopian tube morphology, Hypoplas... ORPHA:3412
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... ORPHA:356961
Chromosome 3Pter-P25 Deletion Syndrome
Postaxial polydactyly, Overlapping toe, Tapered finger OMIM:613792
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Micrognathia, Limi... ORPHA:1826
Schwartz-Jampel Syndrome
Elbow dislocation, Genu valgum, Micrognathia, Hip contracture, Bowing of the long bones, Talipes ... ORPHA:800
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology ORPHA:1861
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long bones, Short... ORPHA:488434
Rothmund-Thomson Syndrome
Aplasia/Hypoplasia of the radius, Short thumb, Infertility, Aplasia/Hypoplasia of the patella, Me... ORPHA:2909
Rhombencephalosynapsis
Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly, Polydactyly ORPHA:59315
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly... ORPHA:2519
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Toe syndactyly, Labial hypoplasia, Hypoplasia of the radius, Clinodactyly o... ORPHA:140952
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... OMIM:612651
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Trichodermodysplasia-Dental Alterations Syndrome
Palmoplantar keratoderma, Adenoma sebaceum, Abnormal hip bone morphology, Abnormal morphology of ... ORPHA:3353
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Micrognathia, Cryptorchidism, Aplasia of ... ORPHA:284339
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Pectus excavatum, Abnormal metaphysis morphology, Long fibula ORPHA:935
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic ilia, Micromelia, Broad long bones, Bowing of the legs, Micrognathia, Short ribs, Tal... ORPHA:1865
Culler-Jones Syndrome
Hypogonadism, Postaxial polydactyly OMIM:615849
Aspartylglucosaminuria
Abnormal vertebral morphology, Pectus carinatum, Umbilical hernia, Abnormal morphology of ulna, P... ORPHA:93
Rothmund-Thomson Syndrome Type 2
Patellar hypoplasia, Plantar hyperkeratosis, Metaphyseal sclerosis, Patellar aplasia, Aplasia/hyp... ORPHA:221016
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm OMIM:242670
Cat Eye Syndrome
Absent radius, Micrognathia, Umbilical hernia OMIM:115470
Osteogenesis Imperfecta, Type Xvii
Thin metacarpal cortices, Bowed humerus, Hip dislocation, Thin long bone diaphyses OMIM:616507
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly ORPHA:531151
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Missing ribs, Aplasia/Hypopla... OMIM:184705
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Finger syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Scoliosis ORPHA:1300
Hyperparathyroidism, Transient Neonatal
Thin ribs, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Undu... OMIM:618188
Bardet-Biedl Syndrome 20
Male hypogonadism, Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Postaxia... OMIM:619471
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uterus, Ambiguous genitalia, Pe... OMIM:618280
Trisomy 1Q
Toe syndactyly, Microretrognathia, Abnormal rib morphology, Camptodactyly of finger, Preaxial han... ORPHA:261344
Tarp Syndrome
Clinodactyly, Single transverse palmar crease, Postaxial polydactyly, Talipes equinovarus, Short ... OMIM:311900
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow... OMIM:151050
Hurler Syndrome
Abnormal vertebral morphology, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnor... ORPHA:93473
Pagod Syndrome
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Female pseudohermaph... ORPHA:991
Loeys-Dietz Syndrome
Arachnodactyly, Micrognathia, Uterine rupture, Camptodactyly of finger ORPHA:60030
Choanal Atresia
Polydactyly ORPHA:137914
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydactyly, Postaxial polydac... ORPHA:404440
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Myhre Syndrome
Platyspondyly, Abnormal epiphysis morphology, Hypogonadism, Abnormal metaphysis morphology, Brach... ORPHA:2588
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly... ORPHA:2754
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia, Bow... ORPHA:666
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Broad foot, Talipes equinovarus, 2-3 finger syndactyly, Broad toe, Short greater sci... OMIM:312870
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Myelomeningocele, Supernumerary ribs, Sprengel anomaly, Spina bifida OMIM:193500
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Narrow chest, Micromelia, Crumpled long bones, Multiple rib fractures, Femoral retrov... OMIM:610682
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Hypogonadism, Postaxial polydactyly, Brac... OMIM:209900
Wolf-Hirschhorn Syndrome
Precocious puberty, Pseudoepiphyses of the metacarpals, Short thumb, Preaxial hand polydactyly, P... OMIM:194190
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Cryptorchidism, Foot polydactyly, Sh... OMIM:305600
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Absent gallbladder, Encephalocele, A... ORPHA:1335
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Micrognathia, Missing ribs, Abnormal rib morphology, Tet... ORPHA:3301
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Joubert Syndrome 37
Postaxial polydactyly OMIM:619185
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Uterine rupture, Cystocele, Metacarpophalangeal joint hyperextensibility, Cr... OMIM:130050
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Prominent fingertip pads, Sandal gap, Umbilical hernia, Clinodactyly of the... OMIM:135900
Tibial Hemimelia
Absent tibia OMIM:275220
Joubert Syndrome 39
Postaxial polydactyly, Joint contracture of the 5th finger OMIM:619562
Cog1-Cdg
Posterior rib gap, Rhizomelia, Micrognathia, Butterfly vertebrae, Vertebral segmentation defect, ... ORPHA:263508
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Aspergillosis
Abnormality of the vertebral column, Abnormal long bone morphology, Abnormal rib morphology ORPHA:1163
Monosomy 9Q22.3
Palmar pits, Plantar pits, Abnormality of the vertebral column, Umbilical hernia, Polydactyly, Sh... ORPHA:77301
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Broad thumb, Toe syndactyly, Finger syndactyly, Short toe, Camptodact... ORPHA:373
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly OMIM:603387
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna OMIM:615398
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Hip dysplasia OMIM:614576
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Orofaciodigital Syndrome V
Postaxial polydactyly, Postaxial foot polydactyly, Sandal gap, Postaxial hand polydactyly OMIM:174300
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Rhizomelic arm shortening, Proximal femoral metaphyseal irregularity, Abno... ORPHA:397715
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly OMIM:219730
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Single transverse palmar crease, Polydactyly, 2-3 toe synd... ORPHA:404448
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Short ribs, Postaxial polydactyly, Short cl... OMIM:617088
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia o... ORPHA:3186
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short palm, Short foot, ... ORPHA:93357
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ... ORPHA:2886
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Postaxial polydactyly, Hip dysplasia, Short foot, Hip dislocation, Tapered finger OMIM:300968
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... OMIM:247200
Smith-Lemli-Opitz Syndrome
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... ORPHA:818
Congenital Sialidosis Type 2
Polydactyly ORPHA:93400
Trisomy 18
Microretrognathia, Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Abnorma... ORPHA:3380
Mend Syndrome
Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Long fingers OMIM:300960
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,... OMIM:617527
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short tibia, Short femur OMIM:620306
Noonan Syndrome 1
Radial deviation of finger, Clinodactyly, Abnormal sternum morphology, Hypogonadism, Micrognathia... OMIM:163950
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocation, Camptodac... ORPHA:2554
Okamoto Syndrome
Bifid uterus, Hip dysplasia, Polydactyly ORPHA:2729
Joubert Syndrome 14
Postaxial polydactyly OMIM:614424
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Polydactyly, Brachydactyly, Short 2nd toe, Syndactyly OMIM:311200
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal... OMIM:216340
Monosomy 9P
Abnormality of the vertebral column, Abnormal rib morphology, Abnormality of the tarsal bones, Mi... ORPHA:261112
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Polydactyly, Arachnodactyly, Hallux valgus, Clinodactyly of the 5th finger, Acrom... ORPHA:464306
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor... ORPHA:2907
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly OMIM:616546
Helsmoortel-Van Der Aa Syndrome
Small hand, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad hallux, Genu valgum, Polyd... OMIM:615873
Carpenter Syndrome 2
Broad thumb, Preaxial polydactyly, Cutaneous finger syndactyly, Bilateral postaxial polydactyly, ... OMIM:614976
Pallister-Killian Syndrome
Small scrotum, Small hand, Postaxial foot polydactyly, Supernumerary nipple, Micrognathia, Crypto... OMIM:601803
Legius Syndrome
Clinodactyly of the 5th finger, Polydactyly ORPHA:137605
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Male infertility OMIM:244400
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th... OMIM:180849
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib morphology, Umb... ORPHA:581
Tetrasomy 9P
Small hand, Hypoplastic scapulae, Umbilical hernia, Infertility, Micrognathia, Bilateral single t... ORPHA:3310
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, Mesomelia, Synd... OMIM:613610
Faciocardiomelic Syndrome
Hypoplastic pelvis, Slender long bone, Polydactyly OMIM:612731
Townes-Brocks Syndrome
Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Broad thumb, Toe synd... ORPHA:857
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Abnormal digit morphology, Hypogonadotropic hypogonadism, Amenorrhea, Infertility ORPHA:95494
Norrie Disease
Erectile dysfunction, Uterine rupture, Cryptorchidism ORPHA:649
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Deep palmar crease, Hip dysplasia, Clinodactyly of the 5t... OMIM:616580
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, 2-4 toe cutaneous syndactyly, Polydactyly, Chordee, Hallux valgus, Abnormal toe mo... ORPHA:268261
Alstrom Syndrome
Irregular menstruation, Hypergonadotropic hypogonadism, Polydactyly OMIM:203800
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly of finger, Bo... OMIM:249000
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short... ORPHA:2908
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology, Abnormal foot morphology ORPHA:1666
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Thumb contracture, Clinodactyly of the 5th finger, Single tran... OMIM:607932
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Cystic Fibrosis
Male infertility, Clubbing of fingers OMIM:219700
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Bowing of the long bones, Abnormal rib morphology, A... ORPHA:667
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Abnormal epiphysis morphology, Kyphosis, Abnormal rib morphology, Umbilical hernia... ORPHA:534
Rabson-Mendenhall Syndrome
Polydactyly ORPHA:769
Charge Syndrome
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Polydactyly, Talipes, Hypogonadotropic ... ORPHA:138
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Talipes equinov... OMIM:619488
Neurocardiofaciodigital Syndrome
Polydactyly, Syndactyly OMIM:619869
Stromme Syndrome
Preaxial polydactyly OMIM:243605
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Clinodactyly OMIM:618460
Alagille Syndrome 1
Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ... OMIM:118450
Cerebrooculonasal Syndrome
Postaxial polydactyly, Postaxial hand polydactyly OMIM:605627
Bardet-Biedl Syndrome
Irregular menstruation, Fifth finger distal phalanx clinodactyly, Finger syndactyly, Hypogonadism... ORPHA:110
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o... ORPHA:353277
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly OMIM:301022
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Uterine rupture, Umbilical hernia, Cystocele, Cryptorchidism, Uterine... ORPHA:286
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence... ORPHA:2052
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Absent distal phalanges, Arachnodactyly, Talipes equinovarus, Post... OMIM:610168
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Postaxial polydactyly, Talipes equinovarus, Hip dysplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Postaxial polydactyly, Talipes equinovarus, Hip dysplasia ORPHA:352665
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, C... ORPHA:480880
Loeys-Dietz Syndrome 1
Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Postaxial hand polydactyly, Camptodac... OMIM:609192
Carney Complex
Abnormal sperm motility, Decreased fertility in males, Oligozoospermia ORPHA:1359
Orofaciodigital Syndrome Xiv
Preaxial polydactyly, Broad hallux, Postaxial hand polydactyly OMIM:615948
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Polydactyly, Broad first metatarsal, Postaxial polydactyly, Syndactyly OMIM:619534

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Wnt7a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wnt7a.

No publications found that use IMPC mice or data for Wnt7a.

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MGI Allele Allele Type Produced
Wnt7atm43685(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Wnt7atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Wnt7aem1(IMPC)Ccpcz Exon Deletion Mice

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