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Gene: Hoxa13 MGI:96173

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

homeobox A13

Synonyms:

Hox-1.10

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 Hoxa13 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.

Human diseases associated with Hoxa13 (3 diseases)
Human diseases predicted to be associated with Hoxa13 (2399 diseases)

The table below shows human diseases associated to Hoxa13 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly	OMIM:176305
Hand-Foot-Genital Syndrome	Ulnar deviation of the 2nd finger, Chordee, Short hallux, Small thenar eminence, Hypospadias, Sho...	OMIM:140000
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438

The table below shows human diseases predicted to be associated to Hoxa13 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Toes, Space Between First And Second	Sandal gap	OMIM:189230
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe...	OMIM:272150
Brachydactyly, Type A3	Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact...	OMIM:112700
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Digital Arthropathy-Brachydactyly, Familial	Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte...	OMIM:606835
Brachydactyly, Type A4	Aplasia of the middle phalanges of the toes, Talipes calcaneovalgus, Type A brachydactyly, Congen...	OMIM:112800
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Cleidorhizomelic Syndrome	Rhizomelia, Bilateral single transverse palmar creases, Brachydactyly, Diaphyseal undertubulation...	ORPHA:1453
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Hallux Varus-Preaxial Polysyndactyly Syndrome	Clinodactyly of the 5th finger, Sandal gap	ORPHA:2110
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Radial Hemimelia	Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of...	ORPHA:93321
Thiemann Disease, Familial Form	Abnormal epiphysis morphology, Brachydactyly, Abnormal metaphysis morphology	ORPHA:3314
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Symphalangism, Proximal, 1B	Short 2nd finger, Clinodactyly of the 5th finger, Proximal/middle symphalangism of 5th finger, Ab...	OMIM:615298
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Craniosynostosis, Adelaide Type	Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co...	OMIM:600593
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot	OMIM:190680
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
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Brachydactyly, Type A1, D	Short distal phalanx of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Sh...	OMIM:616849
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Brachydactyly, Type A1, B	Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S...	OMIM:607004
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Gombo Syndrome	Brachydactyly, Radial deviation of finger, Clinodactyly	OMIM:233270
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Brachydactyly, Type A2, With Microcephaly	Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Absent ...	OMIM:211369
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly	ORPHA:1078
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Keratosis Palmaris Et Plantaris With Clinodactyly	Clinodactyly of the 5th finger	OMIM:148520
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly	OMIM:140450
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Thumb Deformity	Aplasia/Hypoplasia of the thumb	OMIM:188100
Banki Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach...	ORPHA:1228
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Coloboma Of Macula-Brachydactyly Type B Syndrome	Short distal phalanx of finger, Broad thumb, Renal agenesis, Camptodactyly of finger, Type B brac...	ORPHA:1471
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Adactylia, Unilateral	Adactyly, Short thumb	OMIM:102650
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Acrorenal Syndrome	Finger aplasia	OMIM:102520
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Cleidorhizomelic Syndrome	Clinodactyly of the 5th finger, Rhizomelia, Short middle phalanx of the 5th finger	OMIM:119650
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Langer Mesomelic Dysplasia	Severe short stature, Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Dispr...	ORPHA:2632
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Broad hallux, Abnormal thumb morphology, Hydronephrosis, Bifid...	ORPHA:2669
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Multiple Synostoses Syndrome	Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Brachydactyly, Sh...	ORPHA:3237
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Renal insufficiency, Abnormal morpho...	ORPHA:971
Coloboma Of Macula With Type B Brachydactyly	Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen...	OMIM:120400
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Severe short stature, Split hand, Split foot, Tapered finger	OMIM:220600
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing...	ORPHA:1113
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle, Short thumb, E...	ORPHA:968
Arthrogryposis, Distal, Type 2B2	Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Overlapping fingers, Talipes ...	OMIM:618435
Split-Hand And Split-Foot With Hypodontia	Split hand, Split foot	OMIM:183500
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly	OMIM:176305
Talonavicular Coalition	Abnormality of the ankle, Coalescence of tarsal bones, Proximal/middle symphalangism of 5th finge...	OMIM:186750
Mckusick-Kaufman Syndrome	Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Hydronephrosis, Agangli...	OMIM:236700
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E...	OMIM:201250
Brachydactyly Type A4	Shortening of all middle phalanges of the toes, Short middle phalanx of the 2nd finger, Talipes e...	ORPHA:93394
Cooks Syndrome	Triphalangeal thumb, Broad thumb, Brachydactyly, Split hand	ORPHA:1487
Ectrodactyly-Polydactyly	Split hand, Split foot, Postaxial hand polydactyly	OMIM:225290
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Split hand, Split foot	OMIM:183700
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Duplicated colon, Anteriorly placed an...	OMIM:258040
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Arachnodactyly, Craniosynostosis, Humeroradial synostosis	OMIM:614416
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb	ORPHA:435804
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Abnormality of the urinary system, Cutaneous finger syndactyly, 2-3 toe syndactyl...	DECIPHER:46
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr...	OMIM:186570
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Anonychia-Ectrodactyly	Aplasia of metacarpal bones, Split hand	OMIM:106900
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Feingold Syndrome Type 2	Short middle phalanx of finger, Toe syndactyly, Brachydactyly, Short thumb	ORPHA:391646
Limb Defects, Distal Transverse, With Impaired Intellectual Development And Spasticity	Split hand	OMIM:246555
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Tetrasomy X	Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia	ORPHA:9
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe...	OMIM:127300
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly	ORPHA:2935
Symphalangism, Distal	Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent...	OMIM:185700
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
2q37 monosomy	Brachydactyly	DECIPHER:44
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid distal phalanx of the thumb, Short distal phalanx of the thumb, Short distal phalanx of hal...	OMIM:256200
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ...	OMIM:228900
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Hand monodactyly, Split hand, Split foot	OMIM:183800
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Micrognathia	OMIM:172880
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
Pacman Dysplasia	Bowing of the long bones, Epiphyseal stippling	OMIM:167220
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al...	ORPHA:750
Syndactyly-Polydactyly-Earlobe Syndrome	Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple...	OMIM:186350
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Brachydactyly Type E	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br...	ORPHA:93387
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Di...	ORPHA:93351
Arthrogryposis, Distal, Type 11	Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore...	OMIM:620019
Cryptorchidism, Unilateral Or Bilateral	Unilateral cryptorchidism, Cryptorchidism	OMIM:219050
Spondylometaphyseal Dysplasia, Type A4	Severe short stature, Disproportionate short-limb short stature, Irregular patellae, Hypoplasia o...	OMIM:609052
Bardet-Biedl Syndrome 10	Hypogonadism, Renal cyst, Renal insufficiency	OMIM:615987
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ...	OMIM:225280
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ...	OMIM:614814
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot	OMIM:300577
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Chromosome 20Q11-Q12 Deletion Syndrome	Finger clinodactyly, Tarsal osteovalgus, Adducted thumb, Brachydactyly, Camptodactyly	OMIM:614257
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Syndactyly	ORPHA:294975
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Fibular aplasia, ...	ORPHA:93323
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Abnorm...	ORPHA:2869
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency, Brachydactyly	OMIM:615995
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico...	OMIM:617805
Eng-Strom Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Brachydactyly, Arthritis, Short stature	ORPHA:1937
Juberg-Hayward Syndrome	Horseshoe kidney, Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thu...	OMIM:216100
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Non-Syndromic Bicoronal Craniosynostosis	Brachydactyly, Metacarpal synostosis	ORPHA:35099
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific...	OMIM:105835
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Irregular acetabular roof, Metaphyseal dysplasia, Genu varum, Delayed ossification of carpal bone...	OMIM:617974
Crisponi/Cold-Induced Sweating Syndrome 2	2-3 toe syndactyly, Cubitus valgus, Limited elbow extension, Clinodactyly	OMIM:610313
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Single transverse palma...	OMIM:201170
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor...	ORPHA:251510
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h...	ORPHA:3329
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ...	OMIM:619350
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Brachydactyly, Clinodactyly of the 5th finger	OMIM:604381
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Mesomelia	ORPHA:1277
Lessel-Kubisch Syndrome	Hypogonadism, Renal hypoplasia, Renal insufficiency	OMIM:618681
20Q11.2 Microdeletion Syndrome	Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly	ORPHA:444051
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Emery-Nelson Syndrome	Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac...	ORPHA:1927
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Wormian bones, Brachydactyly	ORPHA:2787
Pseudopseudohypoparathyroidism	Short 5th finger, Short distal phalanx of the thumb, Short 5th metacarpal, Intrauterine growth re...	ORPHA:79445
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter, Deviation of finger	ORPHA:1450
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Charlie M Syndrome	Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly	ORPHA:1406
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow	ORPHA:3268
Winchester Syndrome	Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy	OMIM:277950
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
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
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Infertility, True hermaph...	OMIM:278850
Brachydactylous Dwarfism, Mseleni Type	Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of the elbow, Sho...	ORPHA:2619
Testicular Anomalies With Or Without Congenital Heart Disease	Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysge...	OMIM:615542
Bardet-Biedl Syndrome 16	Renal agenesis, Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal ...	OMIM:615993
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Finnish Upper Limb-Onset Distal Myopathy	Intrinsic hand muscle atrophy, Joint contracture of the hand, Weakness of the intrinsic hand musc...	ORPHA:399086
Weyers Acrofacial Dysostosis	Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly, Clinodactyly of the 5th fi...	OMIM:193530
Autosomal Dominant Spastic Paraplegia Type 17	Split hand, Hand muscle atrophy, Hand muscle weakness	ORPHA:100998
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Intestinal obstruction, Tubulo...	ORPHA:85450
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Alopecia-Intellectual Disability Syndrome	Split hand, Brachydactyly, Short stature, Growth delay, Hypergonadotropic hypogonadism	ORPHA:2850
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
Duplication Of Urethra	Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco...	ORPHA:237
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys...	OMIM:177170
Image Syndrome	Micromelia, Hypogonadism, Intrauterine growth retardation, Hydronephrosis, Metaphyseal dysplasia,...	ORPHA:85173
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand	OMIM:619248
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d...	OMIM:102510
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Oligodactyly, Abnormality of the hand, Clinodactyly of the 5th finge...	ORPHA:521308
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
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Distal Symphalangism	Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Camptodactyly of f...	ORPHA:3248
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ...	ORPHA:429
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Postnatal growth retardation, Short middle phalanx of the 2nd fi...	OMIM:614326
Myopathy, Distal, 3	Joint contracture of the hand, Split hand	OMIM:610099
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism	OMIM:617564
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Bardet-Biedl Syndrome 4	Hypogonadism, Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, Syndactyly	OMIM:615982
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Bilateral triphalangeal thumbs, Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangea...	OMIM:124480
Holzgreve Syndrome	Renal hypoplasia, Renal agenesis, Cleft palate	OMIM:236110
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short stature, Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc...	ORPHA:3258
Brachydactyly, Type E2	Short stature, Short metatarsal, Short metacarpal, Brachydactyly	OMIM:613382
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Oligodactyly, Abnormality of the wris...	ORPHA:1307
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Aplasia/Hypoplasia of the phalanges of the hallux, Hall...	ORPHA:337
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Micromelia, Finger syndactyly, Intrauterine growth retardation, Abnor...	ORPHA:2145
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ...	ORPHA:166024
Mmep Syndrome	Triphalangeal thumb, Split foot	ORPHA:3434
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Talipes equinovarus, Split hand	OMIM:607831
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:113400
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ...	OMIM:266810
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Decreased fertility, Cryptorchidism, Polycystic ovaries, Enlarged poly...	ORPHA:90796
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb...	ORPHA:753
Seckel Syndrome 7	Severe short stature, Intrauterine growth retardation, Madelung deformity, Primary amenorrhea, Hi...	OMIM:614851
Craniosynostosis 3	Bicoronal synostosis, Single transverse palmar crease, Hallux valgus, Sagittal craniosynostosis, ...	OMIM:615314
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	2-3 toe syndactyly, Clinodactyly	OMIM:619311
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Charcot-Marie-Tooth Disease And Deafness	Thenar muscle atrophy, Thenar muscle weakness, Split hand, Hammertoe	OMIM:118300
Hypoglossia-Hypodactylia	Adactyly, Micrognathia, Split hand	OMIM:103300
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Abnormal metacarpal morp...	ORPHA:2370
Mietens-Weber Syndrome	Elbow flexion contracture, Severe postnatal growth retardation, Dislocated radial head, Forearm u...	OMIM:249600
Split-Hand/Foot Malformation 3	Camptodactyly, Renal hypoplasia, Split hand	OMIM:246560
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Micrognathia, Abnormal morphology of ulna, Abnormal metacarpal morphology, Clinod...	ORPHA:3104
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Brachydactyly, Clinodactyly, Syndactyly	OMIM:610023
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Brachydactyly, Delayed ossification of carpal bones	OMIM:618392
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Desmoid Tumor	Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Hydrone...	ORPHA:873
Acces Syndrome	Ectrodactyly, Horseshoe kidney, Hip dysplasia, Clinodactyly of the 5th finger, Hip dislocation, S...	OMIM:619959
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydactyly, Trident ...	OMIM:617405
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited...	OMIM:614078
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Brachydactyly, Short metatarsal, Short ...	ORPHA:1278
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Jackson-Weiss Syndrome	Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3...	ORPHA:1540
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Broad hallux, Short thumb, Premature osteoarthritis, Osteochondritis dissecan...	OMIM:165800
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly	OMIM:300928
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal, Short digit	ORPHA:228190
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Short thumb	OMIM:618453
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Clinodactyly	ORPHA:500166
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Jeune Syndrome	Nephropathy, Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, ...	ORPHA:474
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Short stature, Premature ovarian insufficiency, Split hand	OMIM:618124
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Urinary incontinence, Sandal gap, Preaxial polydactyly, Genu valg...	OMIM:617927
Charcot-Marie-Tooth Disease, Type 4B2	Ulnar claw, Talipes equinovarus, Split hand, Hammertoe	OMIM:604563
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly	OMIM:615984
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Clinodactyly, Ectrodactyly, Hypogonadotropic hypogonadism, Micropenis, Delayed puberty, Primary a...	OMIM:147950
Keipert Syndrome	Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Brachydactyly, Camptodac...	OMIM:301026
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis	OMIM:192950
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Ulnar claw, Split hand, Hammertoe	OMIM:118220
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Microphallus, Postnatal growth retardation, Intrauterine growth r...	ORPHA:397590
Spastic Paraplegia 17, Autosomal Dominant	Thenar muscle atrophy, Thenar muscle weakness, Split hand	OMIM:270685
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga	OMIM:132450
Limb-Mammary Syndrome	Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly	OMIM:603543
Patent Ductus Arteriosus 2	Clinodactyly of the 5th finger	OMIM:617035
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Lower limb undergrowth, Brachydactyly, Short stature, Secondary amenorrhea, Bowing of the legs	OMIM:612847
Bardet-Biedl Syndrome 19	Renal hypoplasia, Hypogonadism, External genital hypoplasia, Renal insufficiency, Hydronephrosis	OMIM:615996
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Stage 5 chronic kidney disease, Neonatal death, Hydronephrosis, Renal ...	OMIM:613390
Macdermot-Winter Syndrome	Hydronephrosis, Intrauterine growth retardation, Camptodactyly of finger	OMIM:247990
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the ovary, Nausea and vomiting, Intestinal obstructio...	ORPHA:543
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro...	ORPHA:325124
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Volvulus, Abnormality of the uterus, Recurrent urinary...	ORPHA:2970
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Micro...	ORPHA:989
Hypochondroplasia	Flared metaphysis, Limited elbow extension, Trident hand, Brachydactyly, Short long bone, Cranios...	OMIM:146000
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation...	OMIM:311300
Mesomelia-Synostoses Syndrome	Synostosis of joints, Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal b...	ORPHA:2496
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Microcephaly-Cardiomyopathy	Clinodactyly of the 5th finger, Sandal gap	OMIM:251220
Jawad Syndrome	Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ...	OMIM:251255
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Leydig Cell Hypoplasia	Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C...	ORPHA:755
Congenital Vertical Talus	Lower extremity joint dislocation, Rocker bottom foot, Equinus calcaneus	ORPHA:178382
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda...	ORPHA:90650
Charcot-Marie-Tooth Disease Type 4D	Distal upper limb muscle weakness, Split hand, Hammertoe, Upper limb amyotrophy	ORPHA:99950
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce...	OMIM:277000
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Renal agenesis, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal ...	ORPHA:3411
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Lamb-Shaffer Syndrome	Long hallux, Overlapping toe, Clinodactyly, Long fingers	OMIM:616803
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Short stature, Foot polydactyly, Split hand, Phocomelia	ORPHA:3004
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Leri Pleonosteosis	Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of ...	ORPHA:2900
Heyn-Sproul-Jackson Syndrome	Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals	OMIM:618724
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Ulnar claw, Split hand, Hammertoe	OMIM:118200
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Cleft Palate, Deafness, And Oligodontia	Short hallux, Sandal gap	OMIM:216300
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Humeroradial synostosis, Neonatal death, Tal...	OMIM:251230
Microcephaly-Albinism-Digital Anomalies Syndrome	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia	ORPHA:2513
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin...	ORPHA:2768
Synostoses, Tarsal, Carpal, And Digital	Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy...	OMIM:186400
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Clinodactyly, Short palm	ORPHA:73273
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Infundibulopelvic Dysgenesis	Abdominal pain, Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Spermatogenic Failure 20	Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Aurocephalosyndactyly	Craniosynostosis, 4-5 toe syndactyly	OMIM:109050
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Exstrophy-Epispadias Complex	Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Anal ...	ORPHA:322
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh...	ORPHA:93258
Acromicric Dysplasia	Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog...	ORPHA:969
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Hartsfield Syndrome	Craniosynostosis, Intrauterine growth retardation, Aplasia/Hypoplasia of the radius, Split hand	ORPHA:2117
Multiple Synostoses Syndrome 4	Overlapping toe, Broad foot, Pes planus, Brachydactyly, Tarsal synostosis	OMIM:617898
Intellectual Developmental Disorder, Autosomal Recessive 79	Slender finger, Short hallux, Pes planus, Long fingers, Clinodactyly of the 5th finger	OMIM:620393
Isochromosomy Yq	Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada...	ORPHA:98798
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Slender finger, Multiple joint dislocation...	ORPHA:93360
Acrocephalopolydactyly	Genu recurvatum, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
ERI1-related disease	Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limited elbow extension, Wormi...	OMIM:608739
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Uretera...	ORPHA:2437
Acrodysplasia Scoliosis	Brachydactyly	ORPHA:2956
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
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormality of tibial epiphyses, Arthralgia of the hip, Metaphyseal spurs, Abnormal hand metaphys...	ORPHA:166011
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Anteriorly placed anus...	OMIM:201750
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Delayed cranial suture closure, Cutaneous finger synd...	OMIM:113000
Brachydactyly, Type E1	Type E brachydactyly, Short clavicles, Brachydactyly, Short metatarsal, Short metacarpal, Moderat...	OMIM:113300
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Disproportionate short stature, Arthralgia...	ORPHA:1856
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Nephrolithiasis, Male infertility, Spermatocele	OMIM:301060
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Vaginal at...	OMIM:617914
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Short hallux, Clinod...	ORPHA:2662
Acheiropody	Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated...	OMIM:273250
Bardet-Biedl Syndrome 3	Renal hypoplasia, External genital hypoplasia	OMIM:600151
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Vesicoureteral reflux,...	OMIM:619217
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Bardet-Biedl Syndrome 6	Vaginal atresia, Renal cyst, External genital hypoplasia, Hypospadias	OMIM:605231
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Talipes equinovarus, Hypogonadotropic hypogonadism, Split hand, Primary amenorrh...	OMIM:604168
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Long ...	OMIM:618658
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Abnormality of...	ORPHA:83468
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
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
Meckel Syndrome 12	Bifid uvula, Renal hypoplasia, Bilateral renal agenesis, Vaginal atresia, Hypoplasia of the uteru...	OMIM:616258
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Smith-Mccort Dysplasia 2	Broad femoral neck, Genu valgum, Enlarged interphalangeal joints, Limited elbow extension, Dispro...	OMIM:615222
Odontochondrodysplasia 1	Mesomelia, Genu recurvatum, Metaphyseal cupping, Nephronophthisis, Micromelia, Irregular epiphyse...	OMIM:184260
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility	ORPHA:98797
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam...	OMIM:300244
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidism, Male pseudohermaph...	OMIM:312300
Charcot-Marie-Tooth Disease, Dominant Intermediate G	Split hand	OMIM:617882
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias, Gonadal dysgenesis, male, Cleft palate	OMIM:231060
Chromosome 15Q26-Qter Deletion Syndrome	Intrauterine growth retardation, Talipes equinovarus, Micropenis, Brachydactyly, Short stature, H...	OMIM:612626
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis	ORPHA:401911
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo...	OMIM:202010
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Hypoplasia of penis, Cryptorchidism, Shawl scrotum	ORPHA:2256
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Polydactyly, Brachydactyly, Short long bone, Short stature	OMIM:613819
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing, Hip dysplasia	ORPHA:1858
Keratoconus Posticus Circumscriptus	Recurrent urinary tract infections, Vesicoureteral reflux, Limited elbow extension and supination...	OMIM:244600
Microcephalic Primordial Dwarfism, Dauber Type	Madelung deformity, Primary amenorrhea, Severe postnatal growth retardation, Limb undergrowth, Se...	ORPHA:319675
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Micropenis, Short stature, Infertility, Short metacarpal	ORPHA:261524
Metatropic Dysplasia	Epiphyseal dysplasia, Caudal appendage, Genu valgum, Disproportionate short-trunk short stature, ...	OMIM:156530
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
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
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
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi...	ORPHA:752
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Hand-Foot-Genital Syndrome	Ulnar deviation of the 2nd finger, Chordee, Short hallux, Small thenar eminence, Hypospadias, Sho...	OMIM:140000
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Fe...	ORPHA:2973
Hypomelia With Mullerian Duct Anomalies	Split hand, Postaxial hand polydactyly	OMIM:146160
Symphalangism, Proximal, 1A	Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn...	OMIM:185800
Oslam Syndrome	Radioulnar synostosis, Radial deviation of finger, Clinodactyly	OMIM:165660
Arthrogryposis, Distal, Type 1A	Hand clenching, Joint contracture of the hand, Congenital hip dislocation, Elbow flexion contract...	OMIM:108120
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short middle phalanx of finger, Brachydactyly, Fused cervical vertebrae	ORPHA:1436
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Short thumb, Interphalangeal joint contracture of finger, Enlarged ...	OMIM:151200
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Single transverse palmar crease, Fib...	OMIM:227270
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
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, Short foot, Short phal...	OMIM:102370
Spermatogenic Failure 65	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm...	OMIM:619712
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Hydronephrosis, Hypoplasia of the...	OMIM:602418
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes	OMIM:277740
Spermatogenic Failure 84	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620409
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t...	OMIM:271700
Hypospadias 3, Autosomal	Hypospadias	OMIM:146450
Hypospadias 2, X-Linked	Penoscrotal hypospadias	OMIM:300758
Hypospadias 1, X-Linked	Perineal hypospadias	OMIM:300633
Anus, Imperforate	Ectopic anus, Anal atresia, Hypospadias	OMIM:301800
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia	ORPHA:48
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou...	ORPHA:392
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Femoral bowing, Bowing of the lo...	ORPHA:1860
Intellectual Developmental Disorder, Autosomal Dominant 72	Micropenis, Renal hypoplasia, Feeding difficulties, Shawl scrotum	OMIM:620439
Ceroid Lipofuscinosis, Neuronal, 10	Split hand, Neonatal death	OMIM:610127
Orofaciodigital Syndrome Xv	Hydronephrosis, Duplication of phalanx of hallux, Broad hallux, Postaxial hand polydactyly	OMIM:617127
Brown-Vialetto-Van Laere Syndrome 2	Organic aciduria, Split hand	OMIM:614707
Anauxetic Dysplasia 2	Intrauterine growth retardation, Hypoplasia of the femoral head, Cubitus valgus, Hypoplastic ilia...	OMIM:617396
Meckel Syndrome, Type 9	Multicystic kidney dysplasia, Ambiguous genitalia	OMIM:614209
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Short tibia, Short thumb, Sandal gap, Radial club hand, Bilateral single transv...	ORPHA:1972
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Sclerosteosis	Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy...	ORPHA:3152
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Urinary bladder wall hypertrophy, Anal atresia, Renal dys...	OMIM:601389
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Spermatogenic Failure 56	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:619515
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Clinodactyly, Short middle phalanx of toe, Radial deviatio...	OMIM:602849
Spondyloepimetaphyseal Dysplasia, Irapa Type	Broad femoral neck, Upper limb undergrowth, Genu valgum, Limited elbow extension, Coxa vara, Disp...	OMIM:271650
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens	OMIM:277180
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Hypospadias, Spina bifida	ORPHA:3176
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Cach Syndrome	Renal hypoplasia, Vomiting, Gonadal dysgenesis, Primary amenorrhea, Premature ovarian insufficien...	ORPHA:135
Cat-Eye Syndrome	Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis, Hip dysplasia, Short s...	ORPHA:195
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Urinary incontinence, Intrinsic hand muscle atrophy, Split hand	OMIM:616688
Bresek Syndrome	Renal hypoplasia, Hypoplasia of the bladder, Decreased testicular size, Vesicoureteral reflux, Cr...	ORPHA:85284
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Prieto Syndrome	Clinodactyly, Radial deviation of finger, Talipes equinovarus, Patellar subluxation, Patellar dis...	OMIM:309610
Multiple Epiphyseal Dysplasia Type 4	Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Premature ...	ORPHA:93307
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Renal agenesis, Ectrodactyly, Hypoplasia of the p...	OMIM:619648
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Boudin-Mortier Syndrome	Clinodactyly, Pseudoepiphysis of the 1st metacarpal, Long hallux, Mallet finger, Pseudoepiphyses ...	OMIM:619543
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:301059
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal hypoplasia, Renal agenesis, Cryptorchidism, Micropenis, Hypospadias	ORPHA:171839
Temtamy Preaxial Brachydactyly Syndrome	Tibial deviation of the 2nd toe, Clinodactyly of the 2nd finger, Radial deviation of finger, Cuta...	ORPHA:363417
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Clinodactyly, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling, Narrow greater ...	OMIM:184250
Trichothiodystrophy 9, Nonphotosensitive	Brachydactyly	OMIM:619692
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Hand muscle weakness,...	ORPHA:101097
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Satoyoshi Syndrome	Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of the hand, Brachydactyly, Short st...	OMIM:600705
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy...	OMIM:251450
Congenital Disorder Of Glycosylation, Type Iim	High palate, Gastroesophageal reflux, Vesicovaginal fistula, Ureteropelvic junction obstruction	OMIM:300896
Orofaciodigital Syndrome Xvii	Micropenis, Renal hypoplasia, High, narrow palate	OMIM:617926
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal...	OMIM:216340
Spondylometaphyseal Dysplasia, Kozlowski Type	Dumbbell-shaped femur, Flared metaphysis, Irregular acetabular roof, Elbow flexion contracture, E...	OMIM:184252
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Short first metatarsal, Prominent interdigi...	OMIM:601957
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Bowing of the legs, Aplasia/Hypoplasia of meta...	ORPHA:2502
Spermatogenic Failure 40	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
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
Adams-Oliver Syndrome 4	Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Short toe, Apl...	OMIM:615297
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Sillence Syndrome	Chess-pawn distal phalanges, Broad thumb, Short finger, Short middle phalanx of finger, Abnormal ...	ORPHA:3168
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Uterus didelphy...	OMIM:146255
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Small hand, Clinodactyly, Brachydactyly, Short phalanx of finger, Broad finger	OMIM:614684
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
Keratosis Palmaris Et Plantaris-Clinodactyly Syndrome	Diffuse palmoplantar hyperkeratosis, Clinodactyly of the 5th finger	ORPHA:86919
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:620084
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact...	ORPHA:3098
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile...	OMIM:619585
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Elbow dislocation, Radial bowing, Lateral humeral condyle aplasia, Decrea...	OMIM:164900
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Reduced sperm motility, Exocrine pancrea...	OMIM:137920
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Matthew-Wood Syndrome	Renal hypoplasia, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidney, Vesicoureteral ...	ORPHA:2470
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Progressive Osseous Heteroplasia	Brachydactyly, Osteoarthritis	ORPHA:2762
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Short 5th metacar...	OMIM:618569
Potocki-Shaffer Syndrome	Wormian bones, 2-5 finger cutaneous syndactyly, Brachydactyly, Single transverse palmar crease	OMIM:601224
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Amen...	ORPHA:2795
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u...	OMIM:158330
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar...	ORPHA:251992
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Vaginal fistula	ORPHA:2597
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Premature Ovarian Failure 13	Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea	OMIM:617442
Spermatogenic Failure 47	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
6P22 Microdeletion Syndrome	Hydronephrosis, Finger syndactyly, Clinodactyly	ORPHA:251046
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the p...	OMIM:226980
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Delayed cranial suture closure, Abnormality of the wrist, Bilateral single...	ORPHA:2511
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar...	OMIM:609945
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Mungan Syndrome	Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, ...	OMIM:611376
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Radioulnar synostosis, Brachydactyly, Coron...	ORPHA:921
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
8P23.1 Duplication Syndrome	Hydronephrosis, Toe syndactyly	ORPHA:251076
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hypoplasia of the ra...	OMIM:617604
Spermatogenic Failure 39	Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo...	OMIM:618643
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Intrauterine growth retardation, Brachydactyly, Short metatarsal, Mild sho...	OMIM:614613
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis...	OMIM:166300
Thrombocytopenia, Paris-Trousseau Type	Radial deviation of finger, Clinodactyly	OMIM:188025
49,Xyyyy Syndrome	Short 5th finger, Finger clinodactyly, Bridged palmar crease, Radioulnar synostosis, Cubitus valg...	ORPHA:99330
Laurence-Moon Syndrome	Finger syndactyly, Renal insufficiency, Bilateral single transverse palmar creases, Displacement ...	ORPHA:2377
Jackson-Weiss Syndrome	Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m...	OMIM:123150
Steel Syndrome	Carpal synostosis, Limited elbow extension, Coxa vara, Clinodactyly of the 5th finger, Dislocated...	OMIM:615155
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Osteol...	ORPHA:88630
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ...	ORPHA:2251
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of the han...	OMIM:601680
15q24 recurrent microdeletion syndrome	Hypospadias	DECIPHER:66
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Oligodactyly, Clinodactyly of the 5th finger, Short foot	OMIM:619758
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Anteriorly placed anus	OMIM:617661
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Radial bowing, Premature osteoarthrit...	ORPHA:93314
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda...	ORPHA:440354
Trisomy 13	Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormality of the ureter, Intrauterine gro...	ORPHA:3378
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Neonatal death...	OMIM:187601
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna, Neonatal death	OMIM:276822
Premature Ovarian Failure 6	Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia...	OMIM:612310
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro...	OMIM:175700
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:612997
Camptodactyly Syndrome, Guadalajara Type 2	Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Talipes equinovarus, Short 3rd toe, ...	ORPHA:1326
Hypertrophic Neuropathy Of Dejerine-Sottas	Ulnar claw, Split hand, Hammertoe	OMIM:145900
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Lowry-Wood Syndrome	Shallow acetabular fossae, Squared iliac bones, Multiple joint dislocation, Elbow flexion contrac...	OMIM:226960
Interstitial Cystitis	Functional abnormality of the bladder, Abnormal vagina morphology, Abnormality of the urethra, Ur...	ORPHA:37202
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Hypogonadism, Hydronephrosis, Vaginal atresia, Cystic renal dysplasia	OMIM:615989
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange...	OMIM:618618
Neuralgic Amyotrophy	Upper limb amyotrophy, Scapular winging, Syndactyly	ORPHA:2901
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr...	OMIM:236730
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra...	ORPHA:1515
Serkal Syndrome	Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,...	ORPHA:139466
N Syndrome	Hypospadias, Cryptorchidism	ORPHA:2608
Temtamy Syndrome	Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum	ORPHA:1777
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Limited elbow extension an...	OMIM:605274
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Limited ...	OMIM:300590
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
1Q21.1 Microduplication Syndrome	Tetralogy of Fallot, Gastroesophageal reflux, Hypospadias, Cryptorchidism	ORPHA:250994
11Q22.2Q22.3 Microdeletion Syndrome	Small hand, Bilateral single transverse palmar creases, Brachydactyly, Clinodactyly of the 5th fi...	ORPHA:444002
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Syndactyly	OMIM:619091
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Multiple joint dislocation, Short femoral neck, Knee dislocation, Carpal bone hypoplasia, Hypopla...	OMIM:618395
Dermatoosteolysis, Kirghizian Type	Abnormal diaphysis morphology, Abnormality of the wrist, Abnormality of the hand, Brachydactyly, ...	ORPHA:1657
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Short foot, Clinodactyly, Acromicria	ORPHA:254525
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Arachnodactyly, Brachydactyly, Rudiment...	OMIM:600325
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Intrauterine growth retardation, Genu valgum, Cubitus va...	OMIM:608154
Volvulus Of Midgut	Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten...	OMIM:193250
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachydactyly, Short stature, Craniosyn...	OMIM:618265
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Cryptorchidism, Anal atresia, Hypospadias, Hypoplasia of penis	ORPHA:1381
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Irregular carpal bones, Carpal bone hypoplasia, Soft tissue swelling o...	OMIM:252600
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Phocomelia, Schinzel Type	Finger aplasia, Disproportionate short stature, Radial bowing, Micromelia, Aplasia/Hypoplasia inv...	ORPHA:2879
Roifman Syndrome	Epiphyseal dysplasia, Short toe, Postnatal growth retardation, Intrauterine growth retardation, B...	ORPHA:353298
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Spermatogenic Failure 1	Cryptozoospermia, Oligozoospermia, Male infertility	OMIM:258150
Epidermolysis Bullosa, Lethal Acantholytic	Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the 5th finger,...	OMIM:609638
Intellectual Developmental Disorder, Autosomal Dominant 59	Brachydactyly, Short stature, Short foot, Mild short stature, Short palm	OMIM:618522
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Elbow flexion contracture, Vesicoureteral reflux, Hip contracture, Kne...	ORPHA:85285
Oculogastrointestinal Neurodevelopmental Syndrome	Horseshoe kidney, Vaginal fistula, Anal atresia	OMIM:619318
Waardenburg Syndrome, Type 3	Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly of finger, Cutaneou...	OMIM:148820
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist...	OMIM:146510
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Patellar dislocation, Short distal phalanx of the 5th f...	OMIM:620662
Hirschsprung Disease	Diarrhea, Functional abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal p...	ORPHA:388
16P11.2P12.2 Microduplication Syndrome	Hypospadias, Cleft palate	ORPHA:261204
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Renal hypoplasia, Short iliac bones, Acetabular spurs, Stage 5 chronic kidney disease...	OMIM:614376
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Elbow dislocation, Knee dislocation, Small epiphyses, Adducted thumb, Short long bone, Advanced o...	OMIM:620269
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Nephrocalcinosis, Brachydactyly, Short long bone	OMIM:615633
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm...	ORPHA:90797
Short Stature, Dauber-Argente Type	Decreased fibular diameter, Postnatal growth retardation, Arachnodactyly, Long toe, Long fingers,...	OMIM:619489
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplastic iliac wing, Postnatal growth retardation, Genu valgum, Multicen...	OMIM:223800
Poland Syndrome	Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Nievergelt Syndrome	Mesomelic short stature, Genu valgum, Talipes equinovarus, Radioulnar synostosis, Radial head sub...	OMIM:163400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Adducted thumb, Brachydactyly, Single transverse palmar crease	OMIM:620062
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fi...	ORPHA:1923
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Anteri...	OMIM:618494
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Hypomelanosis Of Ito	Radial deviation of finger, Hand polydactyly, Clinodactyly, Syndactyly	OMIM:300337
Thomas Syndrome	Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3316
Congenital Neuronal Ceroid Lipofuscinosis	Split hand	ORPHA:168486
Trisomy X	Precocious puberty, Multicystic kidney dysplasia, Premature ovarian insufficiency, Renal hypoplas...	ORPHA:3375
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Neuropathy, Congenital, With Arthrogryposis Multiplex	Calcaneovalgus deformity	OMIM:162370
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Genu valgum, Carpal bone hypoplas...	OMIM:250420
Greenberg Dysplasia	Rhizomelia, Brachydactyly, Micromelia, Abnormal pelvis bone ossification	ORPHA:1426
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Oligohydramnios, Cryptorchidism, Cardiomegaly, Perimembranous ventri...	OMIM:620135
Popliteal Pterygium Syndrome	Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o...	OMIM:119500
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
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
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Camptodactyly of finger, Hand muscle atrophy, Intrinsic hand muscle atrophy, Weakness of the intr...	ORPHA:324442
Microphthalmia, Syndromic 8	Split foot	OMIM:601349
Pseudopseudohypoparathyroidism	Short stature, Short metatarsal, Short metacarpal, Brachydactyly	OMIM:612463
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias...	ORPHA:456328
Msh3-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal...	ORPHA:480536
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Abnormality of the ureter, Intrauterine growth ...	ORPHA:1225
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Postnatal growth retardation, Vesicoureteral reflux, Nephrolithiasis, Talipes equino...	OMIM:617219
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly, Neonatal death	OMIM:610498
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology...	ORPHA:251014
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Brachydactyly, Bilateral single transverse p...	ORPHA:1581
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Even-Plus Syndrome	Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux, High palate, Anal at...	OMIM:616854
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Clinodactyly	OMIM:300934
Cutis Laxa, Autosomal Recessive, Type Iie	Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Craniosynostosis, ...	OMIM:619451
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Lumbar Syndrome	Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas...	ORPHA:83628
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormal epiphysis morphology, Elbow dislocation, Irregular epiphyses, Brac...	ORPHA:1824
Acrocardiofacial Syndrome	Toe syndactyly, Joint dislocation, Finger syndactyly, Camptodactyly of finger, Intrauterine growt...	ORPHA:2008
Microduplication Xp11.22P11.23 Syndrome	Toe syndactyly, Pes planus, Pes cavus	ORPHA:217377
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Stillbirth, Advanced ossification of carpal bones, Squared iliac b...	OMIM:215045
46,Xy Ovotesticular Difference Of Sex Development	Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology...	ORPHA:325345
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst, Feeding difficulties in infancy, Decreased liver function	OMIM:614870
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Diaphyseal undertubulation, Patellar dislocation, Finger joint hy...	OMIM:620663
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Dysplasia Epiphysealis Hemimelica	Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Abnormal fe...	ORPHA:1822
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Gastroesophageal reflux, Abnormal morphology of female interna...	ORPHA:1834
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Multicystic kidney dysplasia, Elbow dislocation, Short thumb, Ectrodactyly, Ol...	ORPHA:2538
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Intrauterine growth retardation, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Currarino Syndrome	Arteriovenous malformation, Bifid scrotum, Vesicoureteral reflux, Abnormal intestine morphology, ...	ORPHA:1552
Endove Syndrome, Limb-Brain Type	Toe syndactyly, Talar aplasia, Recurrent urinary tract infections, Hydronephrosis, Neurogenic bla...	OMIM:619218
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,...	OMIM:258860
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Renal hypoplasia, Vesicoureteral reflux, Cryptorchidism, Feeding difficulties	ORPHA:464288
Roifman Syndrome	Short toe, Postnatal growth retardation, Irregular femoral epiphysis, Intrauterine growth retarda...	OMIM:616651
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb	ORPHA:1825
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Limb undergrowth, Brachydactyly, Metaphyseal widening, Shor...	OMIM:618961
Trichorhinophalangeal Syndrome, Type Iii	Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular necrosis of th...	OMIM:190351
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Ulnar-Mammary Syndrome	Renal hypoplasia, Abnormality of the uterus, Decreased fertility, Cryptorchidism, Ectopic anus, A...	ORPHA:3138
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda...	ORPHA:710
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uter...	OMIM:601076
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Bardet-Biedl Syndrome 9	Irregular menstruation, Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial p...	OMIM:615986
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Multiple r...	ORPHA:2924
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Hadziselimovic Syndrome	Renal hypoplasia, Anal atresia, High palate	OMIM:612946
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w...	ORPHA:163966
Cardiospondylocarpofacial Syndrome	Synostosis of carpal bones, Brachydactyly, Short palm	ORPHA:3238
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Genu valgum, Disproportionate short-trunk short stature, Metaphyseal dyspla...	ORPHA:239
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Ureteral agenesis, Single transverse palmar crease, Neonatal death, 2-3 toe syn...	OMIM:236500
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Bifid scrotum, Renal insufficiency, Cryptorchidism, Hypoplasia of penis, Renal ...	ORPHA:85321
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polypos...	OMIM:617100
Waardenburg Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Intestinal obstruction, Aganglionic megaco...	ORPHA:3440
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Hand clenching, Congenital knee dislocation, Postnatal growth retardation, Flexion contracture of...	ORPHA:319332
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Caudal Duplication	Abnormal penis morphology, Urogenital fistula, Intestinal duplication, Uterus didelphys, Cryptorc...	ORPHA:1756
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short phalanx of f...	OMIM:180870
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Intrauterine growth retardation, Rud...	ORPHA:958
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Renal hypo...	ORPHA:2473
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Down-sloping shoulders	ORPHA:1390
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Clinodactyly, Camptodactyly of finger, Talipes equinovarus, Short palm, Tapered finger	ORPHA:85279
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:619828
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Short 5th finger, Complete duplication of thumb phalanx, Shortening of all distal phalanges of th...	OMIM:106995
Auriculoosteodysplasia	Aplasia/Hypoplasia of the radius, Elbow dislocation, Abnormality of the wrist, Abnormal metacarpa...	ORPHA:114
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Chst3-Related Skeletal Dysplasia	Rhizomelia, Irregular epiphyses, Small epiphyses, Genu valgum, Cubitus valgus, Brachydactyly, Sho...	ORPHA:263463
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Abnormality of the wrist, Tarsal synostosis, Abnormality of the ankle, Carpal synostosis	ORPHA:2010
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Stage 5 chronic kidney dise...	OMIM:615994
Adams-Oliver Syndrome 6	Foot oligodactyly, Brachydactyly, Syndactyly	OMIM:616589
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Disproportionate short-trunk short stature,...	ORPHA:457395
Hypotrichosis-Intellectual Disability, Lopes Type	1-5 finger complete cutaneous syndactyly	ORPHA:2266
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Wormian bones, Brachydac...	ORPHA:2863
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor...	ORPHA:321
Igg4-Related Aortitis	Hydronephrosis, Abdominal pain, Intestinal obstruction	ORPHA:449400
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Abnormal joint morphology, Flared femora...	ORPHA:1427
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Anauxetic Dysplasia 1	Severe short stature, Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, E...	OMIM:607095
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Abnormality of the fir...	OMIM:135100
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Disproportionate short-limb short stature, Short toe, Hypoplasti...	OMIM:611717
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral ...	ORPHA:49
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Oligohydramnios, Renal hypoplasia/aplasia, Polyhydramnios, Hy...	ORPHA:1046
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Micropenis, Hydrops fetalis,...	OMIM:618815
Sanjad-Sakati Syndrome	Hypoplasia of penis, Cryptorchidism, Intestinal obstruction	ORPHA:2323
Weill-Marchesani Syndrome	Brachydactyly, Short thumb	ORPHA:3449
Pseudomyxoma Peritonei	Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A...	ORPHA:26790
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia/aplasia, Multiple renal cysts, Cleft palate	ORPHA:1166
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p...	OMIM:300106
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Bifid uvula, Hypogonadism, ...	ORPHA:96170
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Patellar aplasia, Talocalca...	OMIM:147891
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Syndactyly	OMIM:613576
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia, Single transverse palmar crease	OMIM:218550
Non-Syndromic Posterior Hypospadias	Urethral diverticulum, Bifid scrotum, Cryptorchidism, Displacement of the urethral meatus, Esopha...	ORPHA:95706
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Bilateral single transverse palmar crea...	ORPHA:2083
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Primary amenorrhea, Vaginal atresia, Bicornuate uterus, Re...	OMIM:191830
Imagawa-Matsumoto Syndrome	Camptodactyly, Clinodactyly, Large hands	OMIM:618786
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Brachydactyly, Metaphyseal widening, ...	OMIM:612813
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Recurrent urinary tract inf...	OMIM:609029
Craniofrontonasal Dysplasia	Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Hand polydactyly,...	ORPHA:1520
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Polydactyly, Hydronephrosis, Hip dysplasia, Craniosynostosis	ORPHA:531151
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Marden-Walker Syndrome	High, narrow palate, Renal hypoplasia, Cryptorchidism, Zollinger-Ellison syndrome, Micropenis, Hi...	OMIM:248700
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Joubert Syndrome 33	Syndactyly	OMIM:617767
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Frontometaphyseal Dysplasia	Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move...	ORPHA:1826
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re...	OMIM:210720
Acrofacial Dysostosis, Catania Type	Intrauterine growth retardation, Single transverse palmar crease, Brachydactyly, Short stature, H...	OMIM:101805
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru...	ORPHA:3320
Schneckenbecken Dysplasia	Hypoplastic scapulae, Stillbirth, Advanced tarsal ossification, Limb undergrowth, Dumbbell-shaped...	OMIM:269250
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Laron Syndrome	Severe short stature, Short toe, Delayed puberty, Brachydactyly, Osteoarthritis, Hypoplasia of pe...	ORPHA:633
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Delayed cranial suture closure, Abnormal metaphy...	ORPHA:2484
Isolated Atp Synthase Deficiency	Hypogonadism, Renal hypoplasia, 3-Methylglutaconic aciduria	ORPHA:254913
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Nicolaides-Baraitser Syndrome	Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morphology, Sandal gap, Join...	ORPHA:3051
Rudiger Syndrome	Ureterovesical stenosis, Single transverse palmar crease, Short digit, Micropenis, High axial tri...	OMIM:268650
Silver-Russell Syndrome Due To 11P15 Microduplication	Postnatal growth retardation, Intrauterine growth retardation, Severe intrauterine growth retarda...	ORPHA:231144
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Abdominal distention	OMIM:174050
Thumb Agenesis, Short Stature, And Immunodeficiency	Absent thumb	OMIM:274190
Monosomy 5P	Small hand, Finger syndactyly	ORPHA:281
46,Xx Sex Reversal 4	Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias...	OMIM:617480
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias	OMIM:264600
Achondroplasia	Rhizomelia, Hip joint hypermobility, Limited elbow extension, Trident hand, Knee joint hypermobil...	ORPHA:15
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Abnormality of the ankle	ORPHA:1412
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Diarrhea, Oral leukoplakia, Acute hepatic failure, Gastrointestina...	ORPHA:342
Brachyolmia Type 3	Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of finger, Clinod...	OMIM:113500
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
High-Grade Dysplasia In Patients With Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction	ORPHA:231080
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Renal agenesis, Rudimentary fibula, Aplasia of the bladder,...	OMIM:200980
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finger, Genu valgum,...	OMIM:618853
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Enlarged joint...	OMIM:607131
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Abnormal epiphysis morphology, Slender long bone, Wrist swelling, Camptodactyly of f...	ORPHA:2774
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Dislocation of the femoral head, Hydronephrosis, Delayed closure of t...	OMIM:619797
Kury-Isidor Syndrome	Growth delay, Finger syndactyly, Hydronephrosis, Talipes equinovarus, Brachydactyly, Hip dysplasi...	OMIM:619762
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Short uvula, Renal cyst, High palate, Polycystic kidney dysplasia,...	OMIM:614091
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Ambiguous genitalia, Abdominal distention, Polycystic kidney dysplasia, E...	OMIM:613885
Igg4-Related Retroperitoneal Fibrosis	Varicocele, Acute kidney injury, Impotence, Unilateral renal hypoplasia, Renal insufficiency, Ren...	ORPHA:49041
Marinesco-Sjögren Syndrome	Severe short stature, Hypogonadism, Avascular necrosis of the capital femoral epiphysis, Metatars...	ORPHA:559
Intellectual Developmental Disorder, X-Linked 106	Clinodactyly of the 5th finger, Clinodactyly	OMIM:300997
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am...	OMIM:614837
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia, Renal hypoplasia/aplasia	OMIM:267400
Mulchandani-Bhoj-Conlin Syndrome	2-3 toe syndactyly, Clinodactyly	OMIM:617352
Frontonasal Dysplasia 1	Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Pectoral muscle hypoplas...	OMIM:136760
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici...	OMIM:194072
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly	OMIM:601163
Tetraploidy	Radial club hand, Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia, Cryptorchidism	OMIM:616817
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Juberg-Hayward Syndrome	Severe short stature, Toe syndactyly, Short thumb, Horseshoe kidney, Abnormality of the wrist, In...	ORPHA:2319
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Radial head subluxation, Advance...	OMIM:615777
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Cardioacrofacial Dysplasia 2	Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Recurrent patellar disl...	OMIM:619143
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	2-3 toe syndactyly, 3-4 finger syndactyly	OMIM:600906
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Cat Eye Syndrome	Ventricular septal defect, Atrial septal defect, Rectal atresia, Anal atresia, Patent ductus arte...	OMIM:115470
Spinocerebellar Ataxia 47	Small hand, Clinodactyly, Tapered finger	OMIM:617931
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Cone-shaped epiphysis, Palmoplantar keratoderma, Brachydactyly	ORPHA:2824
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Abnormality of the calcaneus, Limited mobility of p...	ORPHA:85438
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Brachydactyly, Short stature, Secondary amenorrhea, Hypergonadotropic hypogonadism	ORPHA:3085
Burn-Mckeown Syndrome	Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Feeding difficulties in infancy, Cleft ...	OMIM:608572
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Micromelia, Ulnar deviation of the ...	OMIM:600383
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Short toe, Camptodactyly of finger, Short 4th metacarpal, Aplasia...	ORPHA:3201
Hereditary Breast And/Or Ovarian Cancer Syndrome	Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas	ORPHA:145
Axial Spondylometaphyseal Dysplasia	Flattened femoral head, Abnormal ilium morphology, Growth delay, Upper limb undergrowth, Hypoplas...	ORPHA:168549
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Cryptorchidism, ...	ORPHA:2704
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortening of all metaca...	OMIM:601356
Al-Raqad Syndrome	Sandal gap, Brachydactyly	OMIM:616459
Woolly Hair Nevus	Brachydactyly	ORPHA:79414
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Verheij Syndrome	Renal hypoplasia, Renal agenesis, Renal cyst, Cleft palate, Feeding difficulties	OMIM:615583
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Infantile Myofibromatosis	Abnormal intestine morphology, Tracheoesophageal fistula, Abnormality of the kidney, Intestinal o...	ORPHA:2591
Eosinophilic Granulomatosis With Polyangiitis	Gastroesophageal reflux, Malabsorption, Renal insufficiency, Nausea and vomiting, Intestinal obst...	ORPHA:183
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria, Poor suck	OMIM:604273
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scrotum, Abnormal...	ORPHA:887
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Stillbirth, Preaxial hand polydactyly	OMIM:263630
Currarino Syndrome	Anal stenosis, Recurrent urinary tract infections, Horseshoe kidney, Septate vagina, Vesicoureter...	OMIM:176450
Spastic Paraplegia 20, Autosomal Recessive	Clinodactyly, Ankle clonus, Brachydactyly, Ulnar deviation of the hand, Camptodactyly, Short foot...	OMIM:275900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Disproportionate short stature, Knee dislocation, Small epiphyses, Genu valgum, Hip contracture, ...	OMIM:618363
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Toe syndactyly, Finger syndactyly, Pes cavus, Abnormal metacarpal morphology, Short hallux	ORPHA:3224
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis	ORPHA:3033
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Genu valgum, Hypogonadotropic hypogonadism, Abnormal metacarpal m...	ORPHA:1295
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Brachydactyly, Tapered finger	ORPHA:317
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Aplasia Cutis Congenita	Toe syndactyly, Finger syndactyly	ORPHA:1114
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Spermatogenic Failure 17	Male infertility	OMIM:617214
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Increased carrying angle, Renal insufficiency, Brachydactyly, Short stature	OMIM:247410
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Clinodactyly, Hypogonadism, Narrow palm, Micropenis, Brachydactyl...	OMIM:615547
Hall-Riggs Syndrome	Brachydactyly, Metaphyseal dysplasia	OMIM:234250
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Mesomelic/rhizomelic limb shor...	ORPHA:2839
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Brachydactyly, Mesomelia	ORPHA:171866
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Postnatal growth retardation, Hydronephrosis, Camptodactyly, Clino...	OMIM:179613
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Nausea...	ORPHA:2241
Waardenburg-Shah Syndrome	Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon, Constipation, Abdom...	ORPHA:897
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal insufficiency, Vesicoureteral ...	ORPHA:2237
Humero-Radial Synostosis	Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Ta...	ORPHA:3265
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Pulmonary lymphangiectasia, Peri...	OMIM:235510
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ...	ORPHA:1788
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Feeding difficulties, Aplasia of the uterus, Tracheo...	OMIM:614083
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Bifid scrotum, Gonadal dysgenesis, Decreased testicular size, Testic...	OMIM:616425
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome	Hypospadias	ORPHA:2261
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Neonatal short-limb short stature, Radial bowi...	OMIM:151210
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Limited elbow extension and supination, Brachydactyly, Dislocated radial head, Ectop...	ORPHA:401935
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
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 1	Female infertility	OMIM:615774
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu v...	OMIM:618870
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros...	OMIM:619902
Pseudohypoparathyroidism, Type Ia	Short toe, Short finger, Low urinary cyclic AMP response to PTH administration, Hypogonadism, Bra...	OMIM:103580
Shox-Related Short Stature	Genu valgum, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Cubitus valgus, Lo...	ORPHA:314795
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Small hand, Short foot, Clinodactyly	ORPHA:254531
Larsen-Like Syndrome	Joint dislocation, Radial deviation of the 4th finger, Talipes equinovarus, Bipartite calcaneus, ...	OMIM:608545
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Ambiguous gen...	OMIM:300219
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Hypogonadism, 2-3 toe syndactyly, Talipes equinovarus, Brachydactyly, ...	ORPHA:3306
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Renal agenesis, Median cleft palate, Cryptorchidism, Micropenis, Anal atresia, ...	OMIM:264480
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Clinodactyly, Single transverse palmar crease	ORPHA:178148
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Broad thumb, Clinodactyly, Ulnar deviated club hands, Hallux valgus, Metopic synostosis, Swan nec...	OMIM:619880
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Abnormal metacarpal morphology, B...	ORPHA:974
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis, Genu valgum, Brachydactyly, Short long bone, Postaxial ...	OMIM:615630
Tetrasomy 15Q26	Horseshoe kidney, Intrauterine growth retardation, Arachnodactyly, Hydronephrosis, Camptodactyly	OMIM:614846
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Toluene Embryopathy	Short stature, Abnormal localization of kidney, Hydronephrosis, Tapered finger	ORPHA:1920
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hypospadias, Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Renal atrophy, Vesicou...	OMIM:618659
Atelosteogenesis Type Ii	Elbow dislocation, Genu valgum, Broad phalanx, Bilateral talipes equinovarus, Short metacarpal, T...	ORPHA:56304
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,...	ORPHA:93259
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Arachnodactyly, Clinodactyly, Syndactyly	OMIM:619092
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Radial bowing, Renal insufficiency, Brachydactyly, Shor...	OMIM:602152
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Bartsocas-Papas Syndrome 1	Axillary pterygium, Hypoplastic scapulae, Popliteal pterygium, Absent thumb, Short thumb, Oligoda...	OMIM:263650
Eec Syndrome	Hypospadias, Toe syndactyly, Finger syndactyly, Ectrodactyly, Vesicoureteral reflux, Renal hypopl...	ORPHA:1896
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Rhizomelia, Metaphyseal cuppin...	OMIM:250220
Braddock-Carey Syndrome 2	Clinodactyly	OMIM:619981
Radiation Proctitis	Hematochezia, Arteritis, Abnormal vascular morphology, Abnormal rectum morphology, Intestinal obs...	ORPHA:70475
Porphyria, Acute Intermittent	Diarrhea, Vomiting, Urinary retention, Paralytic ileus, Nausea, Abdominal pain, Constipation, Uri...	OMIM:176000
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Renal cy...	OMIM:614922
Castleman Disease	Ureteral obstruction, Renal insufficiency, Nausea and vomiting, Intestinal obstruction, Hematuria...	ORPHA:160
Lambert Syndrome	Hypospadias, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Micromeli...	OMIM:224400
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Abnormal rectum morphology, Abnormality of the lower urinary tract	ORPHA:101009
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormal joint morphology, Abnormality of the wrist, Abnormal femu...	ORPHA:3130
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Poland Syndrome	Small hand, Finger syndactyly, Ureterocele, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the t...	ORPHA:2911
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Short thumb	OMIM:609054
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Postnatal growth retardation, Polydactyly, Delayed closure of the anterior fontanelle, Short stat...	ORPHA:231140
Thanatophoric Dysplasia	Abnormal ilium morphology, Disproportionate short-limb short stature, Micromelia, Intrauterine gr...	ORPHA:2655
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Duodenal atresia	OMIM:617784
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly	ORPHA:64754
Three M Syndrome 3	Slender long bone, Prominent calcaneus, Hip dysplasia, Short stature, Clinodactyly of the 5th fin...	OMIM:614205
Boomerang Dysplasia	Absent radius, Neonatal death, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Narrow palm, Fused thoracic vertebrae, Syndactyly	ORPHA:1445
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Oculomaxillofacial Dysostosis	Abnormality of the humerus, Adducted thumb, Brachydactyly, Camptodactyly of finger	ORPHA:1794
Abruzzo-Erickson Syndrome	Hypospadias, Cleft palate	OMIM:302905
Meckel Syndrome, Type 10	Bifid uvula, Renal cyst, Micropenis, Hypospadias, Cleft palate	OMIM:614175
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis...	OMIM:260660
Pde4D Haploinsufficiency Syndrome	Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f...	ORPHA:439822
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndac...	ORPHA:2092
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly	ORPHA:357175
Ovarian Dysgenesis 2	Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco...	OMIM:300510
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased palmar creases, Abnorma...	ORPHA:2980
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Disproportionate short-limb short stature, Joi...	OMIM:618019
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Situs inversus totalis, Renal dysplasia	OMIM:615985
Mosaic Trisomy 14	Cryptorchidism, Ectopic anus, High palate, Hypoplasia of penis, Hypospadias, Cleft palate	ORPHA:1703
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux...	OMIM:301111
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Broad femoral neck, Flared metaphysis, Camptodactyly of finger, Th...	OMIM:612350
Congenital Short Bowel Syndrome	Intestinal malrotation, Intestinal hypoplasia, Displacement of the urethral meatus	ORPHA:2301
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Cryptorchidism, Pelvic kidney, Duodenal at...	OMIM:603467
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Intestinal...	OMIM:243150
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypospadias	ORPHA:1355
Birt-Hogg-Dube Syndrome 1	Renal cyst, Large intestinal polyposis, Renal cell carcinoma, Renal neoplasm, Colon cancer	OMIM:135150
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Neonatal death, Talipes equinovarus, Aplasia/H...	OMIM:108720
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Cubitus valgu...	ORPHA:1327
Intellectual Disability, Wolff Type	Abnormal intestine morphology, Hypospadias, Cryptorchidism	ORPHA:3080
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly	OMIM:614838
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Small epiphyses, Short ...	ORPHA:93346
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Limited wrist extension, Decreased palmar creases, Recurrent patell...	OMIM:108145
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Clinodactyly, Unilambdoid synostosis	OMIM:618577
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Hypogonadism, Delayed puberty, Brachydactyly, Micropenis, Short stature, ...	OMIM:300354
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn...	OMIM:617895
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Neonatal death, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius,...	OMIM:314390
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El...	OMIM:276820
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria, High palate	OMIM:619053
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Growth delay, Clinodactyly, Intrauterine growth retardation, Single transverse palmar crease, Bra...	OMIM:613604
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Syndactyly, Fused cervical ver...	OMIM:607323
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho...	OMIM:615503
Al-Gazali Syndrome	Broad distal phalanx of finger, Hydronephrosis, Wrist flexion contracture, Bowed humerus, Bilater...	OMIM:609465
Distal Duplication 6P	Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system	ORPHA:1745
Opsismodysplasia	Broad thumb, Abnormal epiphysis morphology, Brachydactyly, Hypoplastic pubic bone, Squared iliac ...	ORPHA:2746
Desmoplastic Small Round Cell Tumor	Ileus, Nausea and vomiting, Testicular neoplasm, Abdominal distention, Abdominal pain, Ovarian ne...	ORPHA:83469
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Ectopic kidney, Renal agenesis	OMIM:212780
Limb-Mammary Syndrome	Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy...	ORPHA:69085
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Brachydactyly, Clinodac...	ORPHA:137834
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Genu valgum, Delayed pubic bone o...	OMIM:620099
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Wide pubi...	OMIM:620073
Vacterl Association With Hydrocephalus	Renal hypoplasia, Anal atresia	OMIM:276950
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Duplicated collecting system, Vesicoureteral reflux, Cryptorchidism, Ventricular sept...	OMIM:301056
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Joubert Syndrome 37	Postaxial polydactyly, Hydronephrosis, Micropenis, Short stature, Prominent metopic ridge	OMIM:619185
Leiomyoma Of Vulva And Esophagus	Clitoral hypertrophy, Esophageal obstruction	OMIM:150700
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Gastroesophageal reflux, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesi...	OMIM:191800
Townes-Brocks Syndrome 2	Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Anal atresia, Rectovaginal fist...	OMIM:617466
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Ectopic kidney, Absent radius, Absent scaphoid, Growth de...	OMIM:617247
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me...	ORPHA:3429
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty...	OMIM:252100
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic...	OMIM:244200
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Hypospadias, Atrial septal defect, Ventricular septal defect	OMIM:618330
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Recurrent urinary tract infections, Avascular necrosis of the capital femoral ...	ORPHA:502
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Renal agenesis, Abnormal tibia morphology, Split hand, Hypospad...	ORPHA:1335
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos...	ORPHA:220460
Weaver Syndrome	Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h...	ORPHA:3447
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Diphallia	Penoscrotal transposition, Gastrointestinal duplication, Bladder exstrophy, Bifid scrotum, Duplic...	ORPHA:227
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Synostosis of carpal bones, Finger syndactyly, Moderate postnatal growth re...	ORPHA:1005
Craniosynostosis 2	Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Triphalangeal thumb, Brachydactyly, M...	OMIM:604757
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Postnatal growth retardation, Intrauterine growth retardation, Hypercalciur...	OMIM:614732
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ...	OMIM:142900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Hydronephrosis, W...	OMIM:616897
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Epiphyseal stippling, Brachydactyly	ORPHA:1914
Mucopolysaccharidosis, Type Ii	Severe short stature, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Sp...	OMIM:309900
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Mi...	ORPHA:2872
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Triph...	ORPHA:2994
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly	OMIM:615162
Microphthalmia, Syndromic 9	Renal hypoplasia, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypoplasia of the uterus, Bic...	OMIM:601186
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol...	ORPHA:1106
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Camptodactyly of finger, Cutaneous finger syndactyly, Abnormal finger...	ORPHA:896
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology...	ORPHA:457083
Autosomal Recessive Robinow Syndrome	Short distal phalanx of finger, Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpa...	ORPHA:1507
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Genu recurvatum, Calcaneovalgus deformity	OMIM:225320
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p...	ORPHA:1553
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Short clavicles, Brachydactyly, Hypoplastic pubic bone, Bent long bone	OMIM:614592
Qazi-Markouizos Syndrome	Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Mucopolysacchariduria, Hypoplastic scapulae, Craniosynostosi...	OMIM:252500
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Abnormality of the ureter, Bilateral single transverse palmar creases, Renal hypopla...	ORPHA:1770
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Postnatal growth retardation, F...	OMIM:608940
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Hyperechogenic kidneys, Ulnar bowing, Single tra...	OMIM:617866
Grant Syndrome	Wormian bones, Tibial bowing, Down-sloping shoulders	OMIM:138930
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal cupping of metacarpals, Cone-shaped capital femoral epiphysis, Short finger, Small ep...	OMIM:300232
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly	OMIM:119580
Feingold Syndrome Type 1	Nephritis, Toe syndactyly, Short thumb, Renal dysplasia, Short middle phalanx of finger, Horsesho...	ORPHA:391641
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ...	ORPHA:163654
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Brachydactyly, Clinodactyly of the 5th finger, Craniosynostosis, ...	ORPHA:2163
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Unilateral renal agenesis, Disproportionate short-limb short stature, Hyp...	OMIM:101800
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ...	OMIM:217085
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
Tarp Syndrome	Clinodactyly, Horseshoe kidney, Intrauterine growth retardation, Single transverse palmar crease,...	OMIM:311900
Bladder Exstrophy	Umbilical hernia, Intestinal malrotation, Abnormality of the ureter, Recurrent urinary tract infe...	ORPHA:93930
Joubert Syndrome 10	Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly, Short stature, Growth delay	OMIM:300804
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Anteriorly placed anus, Horseshoe kidney, Bifid clitoris,...	OMIM:600057
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Pseudohypoparathyroidism, Type Ic	Low urinary cyclic AMP response to PTH administration, Hypogonadism, Brachydactyly, Short stature...	OMIM:612462
Feingold Syndrome	Deviation of the 2nd finger, Toe syndactyly, Hallux valgus, Brachydactyly, Clinodactyly of the 5t...	ORPHA:1305
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Hypogonadism, Postnatal growth retardation, Intrauterine growth re...	OMIM:612513
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Ventricular septal defect, Ambiguous genitalia, Transposition of the great a...	ORPHA:1913
Wolfram Syndrome 1	Hydroureter, Limited mobility of proximal interphalangeal joint, Hydronephrosis, Neurogenic bladd...	OMIM:222300
Pfeiffer Syndrome Type 3	Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Horseshoe kidney, Vesicoureteral refl...	ORPHA:93260
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
W Syndrome	Clinodactyly, Radial bowing, Elbow dislocation, Cubitus valgus, Hypoplasia of the ulna, Metatarsu...	ORPHA:2804
Robinow Syndrome, Autosomal Recessive 2	Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Brachydactyly, Cam...	OMIM:618529
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Ambiguous genitalia, Hypospadias	ORPHA:276422
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Bulging epiphyses, Genu valgum, Fibular bowing, Femoral bowing, ...	OMIM:600785
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Cantu Syndrome	Erlenmeyer flask deformity of the femurs, Broad hallux, Broad first metatarsal, Hypoplastic ischi...	OMIM:239850
Lujan-Fryns Syndrome	Arachnodactyly, Brachydactyly, Camptodactyly of finger	ORPHA:776
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped...	ORPHA:420794
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Lambert Syndrome	Hypospadias	OMIM:245550
Three M Syndrome 2	Short 5th finger, Severe short stature, Slender long bone, Clinodactyly, Intrauterine growth reta...	OMIM:612921
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Short distal phalanx of finger, Renal insufficiency, Brachydactyly, Short stature	ORPHA:1563
Congenital Disorder Of Glycosylation, Type Iig	Hypospadias, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femoral neck...	OMIM:611209
Acromesomelic Dysplasia 4	Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, Prominent deltoid t...	OMIM:619636
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Elbow flexion contracture, Limited elbow movement, Talipes equinovaru...	OMIM:615065
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Single transverse palmar creas...	OMIM:617425
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty...	ORPHA:90652
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Malabsorption, Chronic diarrhea, Intestinal obstruction	OMIM:601675
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly	ORPHA:1514
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Femoral bowing, Limited elbow ...	OMIM:616723
Mucopolysaccharidosis Type 1	Abnormal epiphysis morphology, Joint dislocation, Abnormal hip bone morphology, Mucopolysaccharid...	ORPHA:579
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Absent p...	OMIM:618469
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Constipation, Fetal ...	ORPHA:73246
15Q24 Microdeletion Syndrome	Hypospadias, Small hand, Clinodactyly, Microphallus, Postnatal growth retardation, Abnormal thumb...	ORPHA:94065
Clark-Baraitser Syndrome	Sandal gap, Clinodactyly	OMIM:617752
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Femoral-Facial Syndrome	Long penis, Cryptorchidism, Renal hypoplasia/aplasia, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Cornelia De Lange Syndrome 1	High, narrow palate, Renal hypoplasia, Gastroesophageal reflux, Hypoplastic male external genital...	OMIM:122470
Otoonychoperoneal Syndrome	Hypospadias	OMIM:259780
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Renal agenesis, Horseshoe...	ORPHA:93111
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Cubitus valgus, Brachydactyly, Primary amenorrhea, Short stature	ORPHA:247768
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Hypospadias, Tetralogy of Fallot, Ventricular sept...	OMIM:220210
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Vesicoureteral reflux, Severe postnatal growth retardation, Triphalan...	ORPHA:3078
Suleiman-El-Hattab Syndrome	Clinodactyly, Single transverse palmar crease, Polydactyly, Hydronephrosis, Brachydactyly	OMIM:618950
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Ureteral stenosis, Renal insufficiency, Nausea and vomiting, Intesti...	ORPHA:900
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bi...	ORPHA:3103
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Synda...	OMIM:613684
46,Xy Sex Reversal 4	Renal dysplasia, Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplas...	OMIM:154230
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Hydroureter, Ureterocele, Ectrodactyly, Renal agenesis, Megacystis, Vesicouretera...	OMIM:604292
Jansen-De Vries Syndrome	Small hand, Short foot, Brachydactyly	OMIM:617450
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Unilateral renal agenesis, Finger syndactyly, A...	OMIM:308050
46,Xy Sex Reversal 8	Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal	OMIM:614279
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/...	ORPHA:261265
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Opitz-Kaveggia Syndrome	Hypospadias, Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, ...	OMIM:305450
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Brachydactyly, Abnormality of the elbow	ORPHA:2701
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Hypogonadism, Abnormal stomach morphology, Renal insufficiency, Crypto...	ORPHA:281090
Coffin-Siris Syndrome 6	Wormian bones, Brachydactyly, Clinodactyly	OMIM:617808
12Q14 Microdeletion Syndrome	Horseshoe kidney, Renal hypoplasia, Intestinal malrotation, Ectopic kidney	ORPHA:94063
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts, Decreased liver function	OMIM:614883
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact...	OMIM:613573
Porphyria Variegata	Chronic kidney disease, Increased urinary porphobilinogen, Ileus, Porphyrinuria, Abdominal pain, ...	ORPHA:79473
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Delayed cranial suture closure, Postnatal growth retardation, Intrauterine growth ret...	ORPHA:93324
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Brachydactyly	OMIM:614526
Craniofacial Dyssynostosis With Short Stature	Horseshoe kidney, Cryptorchidism, Ventricular septal defect, Hypospadias, Patent ductus arteriosu...	OMIM:218350
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalan...	OMIM:218600
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Short femur	OMIM:601357
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Irregular menstruation, Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precoc...	ORPHA:90793
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Growth delay, Split hand, Micropenis, Hypospadias, Clubbing	OMIM:600460
Spinocerebellar Ataxia, Autosomal Recessive 20	Camptodactyly, Talipes equinovarus, Brachydactyly, Clinodactyly	OMIM:616354
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Elbow flexion contracture, Hip contracture, Knee flexion contracture, Talipes equinovarus, Adduct...	OMIM:616266
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Esophageal neoplasm, Int...	ORPHA:44890
Acute Intermittent Porphyria	Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinoge...	ORPHA:79276
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo...	OMIM:618117
Joubert Syndrome 20	Renal cyst	OMIM:614970
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ...	OMIM:226300
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal metacarpal morphology, Brachydactyly	ORPHA:93262
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Scapuloperoneal Spinal Muscular Atrophy	Small hand, Clinodactyly, Scapular muscle atrophy, Talipes equinovarus, Scapular winging, Metatar...	OMIM:181405
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Enl...	OMIM:215150
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Prominent fingertip pads, Clinodactyly of the 4th finger, 2-3 toe syndactyly, H...	ORPHA:485405
Developmental Delay, Language Impairment, And Ocular Abnormalities	Short stature, Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis	OMIM:620141
Meacham Syndrome	Abnormal vagina morphology, Hydrometrocolpos, Horseshoe kidney, Crossed fused renal ectopia, Cryp...	ORPHA:3097
Atelosteogenesis Type I	Rhizomelia, Joint dislocation, Talipes equinovarus, Neonatal short-trunk short stature, Limb unde...	ORPHA:1190
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Trisomy 17P	Urethral valve, Intrauterine growth retardation, Prominent metopic ridge, Hydronephrosis, Urethra...	ORPHA:261290
Dworschak-Punetha Neurodevelopmental Syndrome	Unilateral renal hypoplasia, Vesicoureteral reflux	OMIM:619955
Say Syndrome	Cleft palate, Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis, Ectopic kidney	OMIM:616541
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Micromelia, Brachydactyly, Short metacarpal	OMIM:600092
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvi...	OMIM:208500
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly	OMIM:618901
Congenital Disorder Of Glycosylation, Type Id	Joint contracture of the hand, Clinodactyly, Clinodactyly of the 5th toe, Talipes equinovarus, Ad...	OMIM:601110
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux	OMIM:613735
Autosomal Recessive Spastic Paraplegia Type 20	Clinodactyly, Dysuria, Abnormal hand morphology, Genu valgum, Abnormal thumb morphology, Ankle cl...	ORPHA:101000
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Hepatic failure, Diarrhea, Proximal tubulopathy, Vomiting, Villous at...	OMIM:602579
Joubert Syndrome 18	Horseshoe kidney, Renal cyst, Cleft palate, Lobulated tongue	OMIM:614815
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha...	OMIM:184460
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly	ORPHA:261272
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of...	OMIM:114300
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short metacarpal, Abnormal metacarpal morphology, Short thumb, Duplication of the distal phalanx ...	ORPHA:973
Shigellosis	Acute kidney injury, Hepatic failure, Vomiting, Tenesmus, Ulcerative colitis, Urethritis, Acute c...	ORPHA:810
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Toe syndactyly, Split hand, Finger syndactyly	ORPHA:1300
Cerebrofacioarticular Syndrome	Renal hypoplasia, Anal stenosis, Anteriorly placed anus, Gastrostomy tube feeding in infancy, Fee...	ORPHA:314679
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Hydronephrosis, Talipes equinovarus, Congenital posterio...	OMIM:100100
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Irregular epiphyses, Delayed pubic bone ossification, Knee flexion contracture, 2-3 t...	OMIM:618162
Hall-Riggs Syndrome	Limb undergrowth, Abnormal epiphysis morphology, Brachydactyly, Abnormal metaphysis morphology	ORPHA:2107
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
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu...	OMIM:617595
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplastic acetabulae, Hypoplastic iliac wing, Genu valgum, Flared iliac w...	OMIM:253200
Radio-Renal Syndrome	Severe short stature, Multicystic kidney dysplasia, Micromelia, Renal agenesis, Renal hypoplasia/...	ORPHA:3015
Thanatophoric Dysplasia Type 2	Micromelia, Brachydactyly, Abnormality of the kidney, Short stature, Abnormal metaphysis morphology	ORPHA:93274
Van Maldergem Syndrome 2	Renal hypoplasia, Bifid scrotum, Anteriorly placed anus, Cryptorchidism, Micropenis, High palate,...	OMIM:615546
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Horseshoe kidney, Metaphyseal chondrodysplasia, Renal cyst, Brach...	OMIM:250410
Grange Syndrome	Brachydactyly, Finger clinodactyly, Syndactyly	OMIM:602531
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Joint contracture of the 5th finger, Joint contracture of the 4th finger, 2-3 toe syn...	OMIM:618914
Tonne-Kalscheuer Syndrome	Broad thumb, Growth delay, Micropenis, Brachydactyly, Short stature, Hypospadias	OMIM:300978
Smith-Lemli-Opitz Syndrome	Small scrotum, Cryptorchidism, Abdominal distention, Duplicated collecting system, Hypospadias, P...	OMIM:270400
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplastic acetabulae, Irregular epiphyses, Genu valgum, Iliac crest serra...	OMIM:607326
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Intrauterine growth ret...	ORPHA:1765
Osteoglosphonic Dysplasia	Craniosynostosis, Rhizomelia, Brachydactyly	ORPHA:2645
Triploidy	Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Abnormal cardiac septum morphology, ...	ORPHA:3376
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Short stature, Short fourth metatarsal, Short phalanx of finger,...	OMIM:600430
Silver-Russell Syndrome	Abnormality of the urinary system, Sandal gap, Abnormality of the calcaneus, Delayed cranial sutu...	ORPHA:813
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia	OMIM:618381
15q26 overgrowth syndrome	Renal agenesis, Duplication of renal pelvis, Camptodactyly of finger, Horseshoe kidney, Abnormal ...	DECIPHER:81
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Syndactyly	OMIM:602501
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ...	ORPHA:131
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Short toe, Proportionate short stature, Hydronephrosis, Large knee, Clinoda...	OMIM:619269
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Townes-Brocks Syndrome	Renal hypoplasia, Urethral valve, Abnormal vagina morphology, Abnormality of the uterus, Bifid sc...	ORPHA:857
Muenke Syndrome	Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Tarsal synostosis, Short foot...	ORPHA:53271
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha...	OMIM:100800
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Postnatal growth retardation, Hemiatrophy, St...	OMIM:302960
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, mal...	ORPHA:2075
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Abnormality of the ureter, Intrauterine growth retardatio...	ORPHA:1133
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Short clavicles, Short long bone...	ORPHA:370930
Filippi Syndrome	2-4 toe syndactyly, Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly	OMIM:272440
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Gastroesophageal reflux, Bifid sc...	OMIM:107480
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch...	ORPHA:432
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Clinodactyly, Prominent metopic ridge	OMIM:620316
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Small hand, Sandal gap, Clinodactyly, Short foot, Tapered finger	OMIM:618089
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia, Micropenis, Hypospadias, Scrotal ...	OMIM:250790
Diaphanospondylodysostosis	Multiple renal cysts, Cleft palate	ORPHA:66637
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Block vertebrae, Carpal synostosis,...	OMIM:272460
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Overlapping toe, Intrauterine growth retardation, Single transverse...	ORPHA:254528
Silver-Russell Syndrome 1	Delayed cranial suture closure, Clinodactyly of the 5th finger, Short distal phalanx of the 5th f...	OMIM:180860
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Glandular hypospadias, Hydronephrosis, Talipes equinovarus, Brachydact...	ORPHA:1358
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Postnatal growth retardation, Single transverse palmar crea...	OMIM:614800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,...	OMIM:263200
N Syndrome	Hypospadias, Cryptorchidism	OMIM:310465
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors...	OMIM:613680
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Hypospadias	OMIM:201710
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Microphthalmia, Lenz Type	Hydroureter, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Renal hypo...	ORPHA:568
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per...	ORPHA:343
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Clinodactyly, 3-4 finger cutaneous syndactyly	OMIM:164220
Patent Urachus	Recurrent urinary tract infections, Cystocele, Abdominal pain, Patent urachus, Congenital posteri...	ORPHA:431341
Genitopatellar Syndrome	Hypoplastic ilia, Multicystic kidney dysplasia, Patellar aplasia, Hip contracture, Knee flexion c...	ORPHA:85201
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Micropenis, Brachydactyly, Short stature	OMIM:602361
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
X-Linked Intellectual Disability, Hedera Type	Calcaneovalgus deformity, Hyporeflexia of upper limbs	ORPHA:93952
Diamond-Blackfan Anemia 21	Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Cubitus valgus, Hallux valgus, Bra...	OMIM:620072
Trichorhinophalangeal Syndrome, Type I	Cone-shaped epiphyses of the middle phalanges of the hand, Clinodactyly, Swelling of proximal int...	OMIM:190350
Peroxisome Biogenesis Disorder 3A (Zellweger)	Feeding difficulties in infancy, Polycystic kidney dysplasia, Poor suck	OMIM:614859
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Renal hypoplasia, Microphallus, Feeding difficulties, Vesicoureteral reflux, Crypt...	OMIM:618454
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Intrauterine growth retardation, Metaphyseal chondrodysplasia, Renal cyst, Hall...	ORPHA:166035
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo...	OMIM:617690
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
Fanconi Anemia, Complementation Group I	Horseshoe kidney, Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux	OMIM:609053
Van Maldergem Syndrome 1	Renal hypoplasia, Anteriorly placed anus, High palate, Anal atresia, Hypospadias, Feeding difficu...	OMIM:601390
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Brachydactyly	ORPHA:436245
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Hamartoma of tongue, Cryptorchidism, Renal cyst, Ambiguous genitalia, Bifid ton...	OMIM:616300
Ovarian Dysgenesis 3	Female infertility, Aplasia of the ovary, Primary amenorrhea	OMIM:614324
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Charcot-Marie-Tooth Disease Type 1E	Joint contracture of the hand, Hyporeflexia of upper limbs, Hand muscle weakness, Hand muscle atr...	ORPHA:90658
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Elbow dislocation, Abnormality of the upper urinary tract, Brachydactyly, Vertebral fusion, Posta...	ORPHA:2916
Rothmund-Thomson Syndrome, Type 3	Short distal phalanx of finger, Talipes equinovarus, Short digit, Brachydactyly, Proximal placeme...	OMIM:615789
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Syndactyly	OMIM:616006
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Oligohydramnios, Ventricular septal defect, Ovotestis,...	OMIM:611812
Larsen Syndrome	Elbow dislocation, Accessory carpal bones, Knee dislocation, Intrauterine growth retardation, Mul...	OMIM:150250
Acitretin/Etretinate Embryopathy	Antecubital pterygium, Aplasia/hypoplasia involving bones of the lower limbs, Abnormality of the ...	ORPHA:40366
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Multicystic kidney dysplasia, Finger syndactyly, Bilateral single tra...	ORPHA:1001
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Long hallux, Hallux valgus, Broad thumb, Clinodactyly	OMIM:620194
Corneodermatoosseous Syndrome	Palmoplantar keratoderma, Abnormality of the hand, Abnormal metacarpal morphology, Brachydactyly,...	ORPHA:3194
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b...	ORPHA:56305
Temtamy Syndrome	Short 2nd toe, Talipes equinovarus, Brachydactyly, Hip dislocation	OMIM:218340
Renal Agenesis	Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Aplasia/hypoplasia of the uterus,...	ORPHA:411709
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Overtubulated long bones, Fla...	OMIM:618150
Campomelia, Cumming Type	Clubbing of toes, Multicystic kidney dysplasia, Micromelia, Bowing of the long bones, Multiple re...	ORPHA:1318
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu...	OMIM:603860
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal fingertip morphology, Postnatal growth retardation	ORPHA:529965
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Aarskog-Scott Syndrome	Short 5th finger, Clinodactyly, Radial deviation of finger, Testicular atrophy, Single transverse...	OMIM:305400
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Peters-Plus Syndrome	Renal hypoplasia, Anteriorly placed anus, Cryptorchidism, Hydronephrosis, Hypoplastic labia major...	OMIM:261540
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Cubitus valgus, Brachydactyly	OMIM:620237
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:2475
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Brachydactyly, Short stature, Craniosynostosis, Growth delay	ORPHA:457193
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite...	ORPHA:2198
Acrofacial Dysostosis, Catania Type	Small hand, Finger syndactyly, Intrauterine growth retardation, Bilateral single transverse palma...	ORPHA:1786
Proteasome-Associated Autoinflammatory Syndrome 2	Brachydactyly, Clinodactyly	OMIM:618048
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Patent foramen ovale, Ventricular se...	ORPHA:500159
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Gastroesophageal reflux, Tetralogy of Fallot, Intestinal malrotation, Cry...	OMIM:618316
Silver-Russell Syndrome 3	Small hand, Postnatal growth retardation, Antecubital pterygium, Penoscrotal hypospadias, Short s...	OMIM:616489
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Short...	OMIM:164745
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Chordee, Broad phalanx, Short foot, ...	OMIM:166250
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Hypoplasia of the bladder, Hydroureter, Septate vagina, Crossed fused renal...	OMIM:300707
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Intrauterine growth retardation, Nephroblastoma...	ORPHA:314588
Campomelic Dysplasia	Small abnormally formed scapulae, Femoral bowing, Tibial bowing, Fibular hypoplasia, Bowing of th...	ORPHA:140
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ...	OMIM:265380
Congenital Disorder Of Glycosylation, Type Iir	Ascites, Hypospadias	OMIM:301045
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Uterus didelphys, Cryptorchidism, Hydronephrosis, Renal cyst, Ectopic anus, Amb...	ORPHA:93271
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosi...	OMIM:300554
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypoplasia of penis, Hypospadias, Nephrolithiasis	ORPHA:1816
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Bifid uvula, Renal hypoplasia, Vesicoureteral reflux, Submucous cleft hard palate	OMIM:617660
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Brachydactyly	ORPHA:2180
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia	ORPHA:75389
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Cleft soft palate, Hypoplasi...	OMIM:619321
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Edema, Umbilical hernia, Abnormal scrotum morphology, Cryptorchidism, Hypospadias,...	ORPHA:2505
Solitary Rectal Ulcer Syndrome	Hematochezia, Rectal prolapse, Stercoral ulcer, Anal fissure	ORPHA:209964
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clinodactyly, Grow...	OMIM:614813
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Renal hypoplasia/apl...	ORPHA:818
Rubinstein-Taybi Syndrome	Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, B...	ORPHA:783
Fountain Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal metacarpal morphol...	ORPHA:3219
Stankiewicz-Isidor Syndrome	Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Shawl scrotum, Micropenis, Uretera...	OMIM:617516
Cleft Palate-Large Ears-Small Head Syndrome	Hypospadias, Cleft palate	ORPHA:2013
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility	OMIM:620103
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Hypospadias, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:2508
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency, Hepatic cysts	OMIM:173900
Fryns Syndrome	Abnormal aortic arch morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Tetralogy...	ORPHA:2059
Adult Syndrome	Toe syndactyly, Split hand, Split foot	OMIM:103285
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Trisomy 4P	Hypospadias, Cryptorchidism	ORPHA:1738
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Abno...	ORPHA:363444
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral...	OMIM:271520
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, High palate	ORPHA:2115
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly, Decreased fertility, Humerora...	ORPHA:95699
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle...	OMIM:618022
Dent Disease 1	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Fibular bowing,...	OMIM:300009
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, High, narrow palate, Gastroesophageal reflux, Hypo...	ORPHA:7
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypertrophic cardiomyopathy, Oligohydramnios, Abnormal pulmonary valve morphology, Cryptorchidism...	ORPHA:1194
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb shortening, Tali...	ORPHA:2347
Spinal Muscular Atrophy, X-Linked 2	Micropenis, Hypospadias, Cryptorchidism	OMIM:301830
Hermansky-Pudlak Syndrome 6	Recurrent urinary tract infections, Perineal fistula, Endometriosis, Neurogenic bladder, Urinary ...	OMIM:614075
Trisomy 9P	Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:236
Meckel Syndrome, Type 6	Aplasia of the bladder, Horseshoe kidney, Hepatic cysts, Renal cyst, Abnormal internal genitalia,...	OMIM:612284
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Hypopla...	ORPHA:77298
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Sandal gap, Intrauterine growth retardation, Brachydactyly, Short...	OMIM:614607
1Q21.1 Microdeletion Syndrome	Broad thumb, Toe syndactyly, Intrauterine growth retardation, Clinodactyly of the 5th finger, Ves...	ORPHA:250989
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Brachydactyly	OMIM:618727
Intellectual Disability, Buenos-Aires Type	Short stature, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Hydronephr...	ORPHA:3079
Teebi-Shaltout Syndrome	Caudal appendage, Ureteral stenosis, Horseshoe kidney, Single transverse palmar crease, Hydroneph...	OMIM:272950
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove...	OMIM:304120
Distal Deletion 10Q	Clinodactyly, Postnatal growth retardation, Hip dislocation, Acute kidney injury, Prominent finge...	ORPHA:96148
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Clinodactyly, Vesicoureteral reflux, Brachydactyly, Short stature	OMIM:614261
Martinez-Frias Syndrome	Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Hyposp...	OMIM:601346
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar...	ORPHA:2307
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Chronic diarrhea, Villous atrophy, Glomerulonephritis, Ileus	OMIM:304790
Smith-Magenis Syndrome	Abnormal forearm morphology, Abnormality of the urinary system, Abnormal renal morphology, Brachy...	OMIM:182290
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Peptic ulcer, Increased urinary cortisol lev...	ORPHA:913
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Hydatidiform Mole	Menometrorrhagia, Nausea and vomiting, Enlarged uterus	ORPHA:99927
Hartsfield Syndrome	Growth delay, Ectrodactyly, Micropenis, Craniosynostosis, Hypospadias, Syndactyly	OMIM:615465
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Neuroendocrine Neoplasm Of Appendix	Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sounds, Nausea and vomiting, Mec...	ORPHA:100079
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Bladder polyp, Uterine neoplasm, Abnormality of ...	OMIM:175200
Opitz Gbbb Syndrome	Hypospadias, Gastroesophageal reflux, Umbilical hernia, Congenital posterior urethral valve, Rect...	OMIM:300000
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, High palate...	OMIM:308750
Ciliary Dyskinesia, Primary, 51	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620438
Stuve-Wiedemann Syndrome 1	Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc...	OMIM:601559
Focal Dermal Hypoplasia	Toe syndactyly, Foot polydactyly, Short metacarpal, Brachydactyly, Postaxial hand polydactyly, Ur...	OMIM:305600
Phakomatosis Pigmentokeratotica	Precocious puberty, Unilateral renal hypoplasia, Cryptorchidism, Nephroblastoma, Renal transition...	ORPHA:2874
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Hypospadias, Abnormal testis morphology	ORPHA:1548
Ovarian Dysgenesis 9	Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol...	OMIM:619665
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Persistent ope...	ORPHA:1798
Premature Ovarian Failure 18	Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol...	OMIM:619203
Acrofrontofacionasal Dysostosis 2	Hand polydactyly, Broad thumb, Broad hallux, Syndactyly	OMIM:239710
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Galloway-Mowat Syndrome 7	Clinodactyly, Partial duplication of thumb phalanx, Single transverse palmar crease, Arachnodacty...	OMIM:618348
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Ureteral stenosis, Delay...	OMIM:309350
Zechi-Ceide Syndrome	Short distal phalanx of finger, Short metatarsal, Sandal gap	OMIM:612916
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias...	ORPHA:8
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger	ORPHA:1323
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Abnormality of the uterus, Cryptorchidism, Hydroneph...	ORPHA:1655
Nephrotic Syndrome, Type 11	Arachnodactyly, Partial duplication of thumb phalanx, Clinodactyly	OMIM:616730
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Ureteral triplication, Hydronephrosis, Cubitus valgus, Syndactyly	OMIM:104350
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Dilated cardiomyopathy, Decreased testicular size, Cryptorchidism, 3-M...	OMIM:610198
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly	OMIM:618087
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Rhizomelia, ...	OMIM:228520
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal synostosis, Dysplasia of the fe...	OMIM:615349
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, High palate, Premature ovarian insufficie...	OMIM:110100
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Broad long bones, Broad phalanx, Short metacarpal, Knee flexion contracture, Abnormal calcificati...	OMIM:271665
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly,...	ORPHA:261344
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Severe short stature, Joint dislocation, Finger syndactyly, Micr...	ORPHA:2753
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Cystic Fibrosis	Gastroesophageal reflux, Absent vas deferens, Meconium ileus, Exocrine pancreatic insufficiency, ...	ORPHA:586
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Rhizomelia, Disproportionate short-limb short stature, Small epiphyses, Genu valgum, L...	OMIM:271510
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypospadias	OMIM:179250
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility	OMIM:108420
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Multiple bladder diverticula, Umbi...	OMIM:613177
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Micrognathia, Metat...	ORPHA:3082
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Duplicated collecting system, Small hand, Rocker bottom foot, Clinodactyly, Overlapping toe, Intr...	ORPHA:488642
Zellweger Syndrome	Clitoral hypertrophy, Multicystic kidney dysplasia, Hepatic failure, Malabsorption, Cryptorchidis...	ORPHA:912
Gillessen-Kaesbach-Nishimura Syndrome	Bicornuate uterus, Polycystic kidney dysplasia	OMIM:263210
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Slender long bone, Clinodactyly of the 5th toe, Short phalanx of fing...	OMIM:170390
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Deep plantar creases, Coxa valga, Short hallux...	ORPHA:1517
Amoebiasis Due To Entamoeba Histolytica	Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Gastrointestinal dysmotilit...	ORPHA:67
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Ambiguous gen...	OMIM:269860
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ...	ORPHA:91
Fliedner-Zweier Syndrome	Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Hallux valgus	OMIM:620511
Cerebral Creatine Deficiency Syndrome 1	Vomiting, Ileus, Aganglionic megacolon, Feeding difficulties in infancy, Constipation, Elevated u...	OMIM:300352
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Nephronophthisis, Sandal gap, Stage 5 chronic kidney disease, Pos...	OMIM:614099
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab...	ORPHA:1772
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly...	OMIM:600987
X-Linked Dominant Chondrodysplasia Punctata	Epiphyseal stippling, Hydronephrosis, Talipes equinovarus, Severe postnatal growth retardation, N...	ORPHA:35173
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ...	OMIM:211750
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:620548
Oculoskeletodental Syndrome	Short 5th finger, Hypoplasia of the capital femoral epiphysis, Clinodactyly, Metaphyseal dysplasia	ORPHA:557003
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis...	OMIM:617913
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all...	ORPHA:77258
Cloacal Exstrophy	Hydroureter, Ureterocele, Intestinal duplication, Horseshoe kidney, Intestinal malrotation, Vesic...	ORPHA:93929
Kleefstra Syndrome	Gastroesophageal reflux, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Hydronephros...	ORPHA:261494
Braddock-Carey Syndrome 1	Camptodactyly, Talipes equinovarus, Small hand, Clinodactyly	OMIM:619980
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog...	ORPHA:1422
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Anteriorly placed anus, Abnormal heart morphology, Abnormal rectum morphology, Aganglionic megaco...	OMIM:239300
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Johanson-Blizzard Syndrome	Abnormal vagina morphology, Anteriorly placed anus, Hydronephrosis, Abnormality of the female gen...	ORPHA:2315
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad distal phalanx of finger, Broad thumb, Brachydactyly	OMIM:617763
Sandestig-Stefanova Syndrome	Clinodactyly, Bilateral single transverse palmar creases, Camptodactyly, Rocker bottom foot, Prom...	OMIM:618804
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Microphallus, Hyperechogenic kidneys, Fibular bowin...	OMIM:612651
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Hor...	ORPHA:314585
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Nephroblastoma, Renal cyst, Feeding ...	OMIM:257300
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Glandular hypospadias, Gastritis, Shawl scrotum, Nephrotic syndrome, Hypospadias	ORPHA:2575
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Three M Syndrome 1	Short 5th finger, Hypospadias, Joint dislocation, Slender long bone, Postnatal growth retardation...	OMIM:273750
Spinal Cord Injury	Paralytic ileus, Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl...	ORPHA:93317
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Generalized edema, Hydroureter, Intestinal malrotation, Oligohydramnios, Fetal megacystis	OMIM:249210
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Male pseudohermaphroditism, Penoscro...	OMIM:201810
Vater/Vacterl Association	Hypospadias, Short thumb, Renal agenesis, Preaxial polydactyly, Postnatal growth retardation, Int...	OMIM:192350
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the...	OMIM:614900
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Broad thumb, Clinodactyly, Partial duplication of thumb phalanx, ...	OMIM:616331
Ehlers-Danlos Syndrome, Classic-Like, 1	Unilateral renal agenesis, Ambiguous genitalia, female, Vesicoureteral reflux, Hiatus hernia, Bic...	OMIM:606408
Intellectual Developmental Disorder, Autosomal Dominant 48	Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus ar...	OMIM:617751
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachydactyly, Ankle clonus	OMIM:619995
Perrault Syndrome 4	Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hyp...	OMIM:615300
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Diarrhea, Vomiting, Intestinal obstruction, Orchitis, Peritonitis, Constipation, Abdominal pain	ORPHA:32960
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Intrauterine growth retardation, Hydronephrosis, Drumstick terminal phalanges, Duplicated collect...	ORPHA:541423
46,Xy Sex Reversal 6	Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys...	OMIM:613762
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Hypogonadism...	ORPHA:261349
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Hydroureter, Ureterocele, Renal agenesis, Vesicoureteral reflux, Hydronephrosis, ...	OMIM:129900
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Hereditary Mixed Polyposis Syndrome	Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Duodenal adenoc...	ORPHA:157794
Alopecia-Intellectual Disability Syndrome 4	Micropenis, Hypospadias, Bilateral cryptorchidism	OMIM:618840
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limb undergrowth, Brachydactyly, Short foot, Limite...	OMIM:617809
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger	ORPHA:246
Bartsocas-Papas Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Micrognathia, Talipes, Aplasia/Hypoplasia of the...	ORPHA:1234
Adams-Oliver Syndrome 5	Brachydactyly, Syndactyly	OMIM:616028
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Coronal craniosynostosis, Steep acetabular roof, Short clavicle...	ORPHA:313855
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Meier-Gorlin Syndrome 5	Elbow dislocation, Clinodactyly, Slender long bone, Hypoplasia of the capital femoral epiphysis, ...	OMIM:613805
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes	OMIM:192445
Temple Syndrome	Small hand, Short foot, Clinodactyly	OMIM:616222
Craniofacioskeletal Syndrome	Small hand, Intrauterine growth retardation, Hydronephrosis, Brachydactyly, Narrow iliac wing, Sh...	OMIM:300712
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Ulnar deviation of the hand or of fingers of the hand, Arachnodactyly, Talipes equinovarus, Adduc...	ORPHA:562528
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Tetraamelia-Multiple Malformations Syndrome	Vaginal atresia, Multicystic kidney dysplasia, Anal atresia, Cryptorchidism	ORPHA:3301
Secondary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,...	ORPHA:90363
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Brachydactyly, Coxa v...	OMIM:614701
Congenital Disorder Of Glycosylation, Type Iif	Clinodactyly	OMIM:603585
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ...	ORPHA:168558
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Unilateral renal agenesis, Decreased testicular size, Azoospermia, Cryptorchidism,...	OMIM:308700
Radial Aplasia, X-Linked	Anal atresia, Penile hypospadias	OMIM:312190
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th...	ORPHA:570
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Elbow dislocation, Oligodactyly, Bi...	ORPHA:199
Tyrosinemia, Type I	Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Hepatic fa...	OMIM:276700
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu...	ORPHA:1452
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Hypospadias	OMIM:601499
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Talipes equinovarus, Clinodactyly	OMIM:616789
Cystic Fibrosis	Diarrhea, Exocrine pancreatic insufficiency, Ileus, Rectal prolapse, Hypercalciuria, Steatorrhea,...	OMIM:219700
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Gastroesophageal reflux, Branchial cyst, Cryptorchidism, Pulmonary artery stenosis, Hypospadias	ORPHA:435938
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Clinodactyly, Single transverse palmar crease, Down-sloping shoulders	OMIM:616200
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ...	OMIM:143095
Aarskog-Scott Syndrome	Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Single transverse palmar...	ORPHA:915
Congenital Myopathy 17	Hand clenching, Renal hypoplasia, Clinodactyly, Overlapping toe, Overlapping fingers, Ureteropelv...	OMIM:618975
Cystic Echinococcosis	Abnormality of the testis size, Hepatic cysts, Ovarian cyst, Renal cyst, Membranous nephropathy, ...	ORPHA:400
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
You-Hoover-Fong Syndrome	Brachydactyly, Clinodactyly	OMIM:616954
D-Bifunctional Protein Deficiency	Delayed cranial suture closure, Talipes equinovarus, Renal cyst, Split hand, Hammertoe	OMIM:261515
Foxp1 Syndrome	Clinodactyly, Single transverse palmar crease, Prominent fingertip pads	ORPHA:391372
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Intrauterine growth reta...	ORPHA:1297
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Brachyd...	ORPHA:2021
Pycnodysostosis	Aplastic clavicle, Persistent open anterior fontanelle, Wormian bones, Brachydactyly, Narrow ilia...	OMIM:265800
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function	OMIM:600666
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ...	ORPHA:289548
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney, Intestinal ma...	ORPHA:99776
Rin2 Syndrome	Premature ovarian insufficiency, Brachydactyly, Hypergonadotropic hypogonadism	ORPHA:217335
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Slender finger, Small hand, Broad thumb, Broad hallux, Postnatal growth retardation, Abnormal hip...	ORPHA:251028
Hyperparathyroidism 2 With Jaw Tumors	Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren...	OMIM:145001
3Mc Syndrome 1	Short 5th finger, Lambdoidal craniosynostosis, Coronal craniosynostosis, Caudal appendage, Postna...	OMIM:257920
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, Brachydactyly, Scapular winging,...	OMIM:617061
Radial-Renal Syndrome	Absent thumb, Absent radius	OMIM:179280
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Aplasia of the phalanges of the 3rd toe	ORPHA:2229
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Intrauterine growth retardation, Bicoronal synostosis, Brachydactyl...	OMIM:619184
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Rauch-Steindl Syndrome	Bilateral renal hypoplasia, Hyperechogenic kidneys, Exocrine pancreatic insufficiency, Chronic co...	OMIM:619695
Marden-Walker Syndrome	Severe short stature, Hypospadias, Multicystic kidney dysplasia, Abnormal penis morphology, Hydro...	ORPHA:2461
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Supernumerary metacarpal bones, Polydactyly affecting...	ORPHA:672
Distal Duplication 5Q	Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Brachydactyly, Short stature, Cra...	ORPHA:96097
Mosaic Trisomy 16	Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Horseshoe kidney, Large p...	ORPHA:1708
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered toe, Elbow flexion contracture, Renal insufficiency, Enlarged kidney, Knee flexion contra...	OMIM:608836
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Dumbbell-shaped long bone...	ORPHA:3144
Marinesco-Sjogren Syndrome	Cubitus valgus, Hypergonadotropic hypogonadism, Short stature, Short metatarsal, Short metacarpal...	OMIM:248800
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Renal insufficiency, Nausea and vomiting, Nephro...	ORPHA:99880
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication, Dyspha...	OMIM:618460
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small hand, Short foot, Clinodactyly	ORPHA:96184
Caffey Disease	Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs	OMIM:114000
Hajdu-Cheney Syndrome	Foot acroosteolysis, Hypospadias, Genu valgum, Fibular bowing, Crowded carpal bones, Renal cyst, ...	OMIM:102500
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly	OMIM:618027
Fraser Syndrome 1	Clitoral hypertrophy, Renal hypoplasia, Abnormal small intestine morphology, Cryptorchidism, Rena...	OMIM:219000
Trisomy 8P	Short fifth metatarsal, Nephrocalcinosis, Short 1st metacarpal, Clinodactyly of the 2nd finger, C...	ORPHA:264450
Classic Galactosemia	Hepatic failure, Vomiting, Diarrhea, Male infertility, Cryptorchidism, Decreased fertility in fem...	ORPHA:79239
Cardiac-Valvular Ehlers-Danlos Syndrome	Genu recurvatum, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Genu valgum, Hall...	ORPHA:230851
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Short distal phalanx of toe, Brachydactyly, Symphalangism affecti...	ORPHA:1292
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypospadias, Palpebral edema, Gastroesophageal reflux, Esophagitis	ORPHA:79350
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Radial deviation of finger, Clinodactyly, Renal agenesis, Postnatal growth retardati...	OMIM:301040
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Maternal Uniparental Disomy Of Chromosome 2	Abnormality of the ankle, Preaxial hand polydactyly, Postnatal growth retardation, Intrauterine g...	ORPHA:96179
Adult Syndrome	Toe syndactyly, Finger syndactyly, Split foot	ORPHA:978
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Vomiting, Secretory diarrhea, Nasogastric tube feeding, Malabsorption, Ileus, Recurrent gastroent...	ORPHA:37042
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact...	ORPHA:2710
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Axial Osteomalacia	Renal cyst	OMIM:109130
Buratti-Harel Syndrome	Bifid uvula, Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Velopharyngeal insufficie...	OMIM:619314
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Tapered finger, Clinodactyly, Scapular winging, Down-sloping shoulders	OMIM:615560
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Over...	ORPHA:464738
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception	OMIM:112200
Meckel Syndrome, Type 2	Intestinal malrotation, Renal cyst, Cleft palate	OMIM:603194
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Abdominal pai...	ORPHA:97286
Parathyroid Carcinoma	Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Renal insufficiency, Nausea and vomiting, Nephro...	ORPHA:143
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Hypoplasia of the capital femoral epiphysis, Hypoplastic iliac wing, Irregula...	OMIM:313400
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Constipation, Dysphagia, Intestinal obstruction	OMIM:606764
Isolated Epispadias	Vesicoureteral reflux, Anteriorly displaced urethral meatus, Bifid clitoris, Urinary incontinence...	ORPHA:93928
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
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
Cardiofacioneurodevelopmental Syndrome	Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly	OMIM:619123
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormality of the ureter,...	ORPHA:261318
Fanconi Anemia, Complementation Group S	Proximal placement of thumb, Clinodactyly	OMIM:617883
Intellectual Developmental Disorder, X-Linked 99	Hypospadias, Gastroesophageal reflux, Ectopic kidney	OMIM:300919
Tetrasomy 5P	Overlapping toe, Micrognathia, Talipes equinovarus, Short hallux, Long fingers, Clinodactyly of t...	ORPHA:3309
Gabriele-De Vries Syndrome	Sandal gap, Intrauterine growth retardation, Ureteropelvic junction obstruction, Hydronephrosis, ...	OMIM:617557
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape...	OMIM:210600
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Renal dysplasia, Postaxial polydactyly, Hydronephrosis, Hip dysplasia, Short stature,...	OMIM:300968
Maxillonasal Dysplasia	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes	ORPHA:1248
Koolen-De Vries Syndrome	Vesicoureteral reflux, Renal duplication, Arachnodactyly, Hydronephrosis, Vertebral fusion, Short...	ORPHA:96169
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal localization of kidney, Umbilical hernia, Intestinal malrotation, Encephalocele, Cryptor...	ORPHA:2166
Proximal Xq28 Duplication Syndrome	Hypospadias, Cryptorchidism	ORPHA:1762
Insulin-Like Growth Factor I Deficiency	Short stature, Clinodactyly of the 5th finger, Intrauterine growth retardation, Postnatal growth ...	OMIM:608747
Dubowitz Syndrome	Small hand, Broad thumb, Toe syndactyly, Sandal gap, Delayed cranial suture closure, Postnatal gr...	ORPHA:235
Filippi Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Enlar...	ORPHA:3255
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equinovarus, Cutaneou...	OMIM:617822
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Neonatal death, Diaphyseal undertubulation, Short meta...	OMIM:215140
Orthostatic Hypotension 1	Brachydactyly, Retrograde ejaculation, Nocturia	OMIM:223360
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Horseshoe kidney, Intrauterine gr...	ORPHA:2886
Juvenile Polyposis Syndrome	Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ...	OMIM:174900
Orofaciodigital Syndrome Type 6	Renal agenesis, Finger clinodactyly, Preaxial polydactyly, Renal hypoplasia/aplasia, Hand polydac...	ORPHA:2754
Spermatogenic Failure 28	Decreased testicular size, Non-obstructive azoospermia, Male infertility	OMIM:618086
Classical-Like Ehlers-Danlos Syndrome Type 2	Radioulnar dislocation, Joint dislocation, Elbow dislocation, Sandal gap, Knee dislocation, Equin...	ORPHA:536532
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Carpal synostosis, Elbow flexion contracture, Cutaneous finger syndactyly, H...	OMIM:178110
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Hypopla...	OMIM:271640
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Abnormal metacarpal morphology, Large hands, Aplasia/...	ORPHA:2636
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact...	OMIM:154400
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:1727
Stromme Syndrome	Bilateral renal hypoplasia, Intestinal malrotation, Jejunal atresia, Hydronephrosis, Duodenal atr...	OMIM:243605
Saethre-Chotzen Syndrome	Broad thumb, Finger syndactyly, Delayed cranial suture closure, Bilateral single transverse palma...	ORPHA:794
Chromosome 15Q11.2 Deletion Syndrome	Slender finger, Clinodactyly, Short finger, Single transverse palmar crease, Arachnodactyly, Juve...	OMIM:615656
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Recurrent urinary tract infect...	OMIM:620494
Mosaic Trisomy 8	Camptodactyly of finger, Vesicoureteral reflux, Patellar aplasia, Hydronephrosis, Deep palmar cre...	ORPHA:96061
Wolf-Hirschhorn Syndrome	Abnormality of the urinary system, Short thumb, Preaxial hand polydactyly, Intrauterine growth re...	ORPHA:280
Roifman-Chitayat Syndrome	Cone-shaped epiphysis, Arthritis, Short metatarsal, Ectopic kidney, Short metacarpal	OMIM:613328
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Cryptorchidism, Protruding tongue, Abnormal re...	OMIM:619488
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Clinodactyly, Horseshoe kidney, Postnatal growth retardation, Intrauterine growth retardation, Sy...	ORPHA:96182
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpal bone hypoplas...	OMIM:610442
Oliver Syndrome	Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f...	ORPHA:2920
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Hydrourete...	OMIM:269150
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Cryptorchidism	OMIM:616910
Cinca Syndrome	Delayed closure of the anterior fontanelle, Joint dislocation, Brachydactyly, Abnormal joint morp...	ORPHA:1451
Malignant Peritoneal Mesothelioma	Abdominal pain, Peritonitis, Ileus, Abdominal distention	ORPHA:168811
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Bifid uvula, Renal malrotation, Abnormal renal collecting system morph...	OMIM:113650
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Hematochezia, Dilation of Virchow-Robin spaces, Oligohydra...	ORPHA:261311
Meckel Syndrome, Type 5	Renal cyst, Cleft palate	OMIM:611561
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Pterygium, Abnormal hand morphology, Osteolysis involving tarsal bones, Sclero...	ORPHA:371428
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Diarrhea, Vomiting, Villous atrophy, Premature ovarian insufficiency, Prote...	OMIM:212065
Smith-Magenis Syndrome	Toe syndactyly, Abnormality of the ureter, Renal hypoplasia/aplasia, Hand polydactyly, Delayed pu...	ORPHA:819
19P13.3 Microduplication Syndrome	Clinodactyly, Long fingers, Hip dysplasia, Hip subluxation, Hip dislocation	ORPHA:447980
Monosomy 18P	Brachydactyly	ORPHA:1598
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypospadias	ORPHA:2252
Fryns Syndrome	Meckel diverticulum, Renal agenesis, Bifid scrotum, Intestinal malrotation, Cryptorchidism, Hydro...	OMIM:229850
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Clinodactyly, Brachydactyly, Proximal placement of thumb, Short palm, Syndactyly	OMIM:217980
22Q11.2 Deletion Syndrome	Renal hypoplasia, Gastroesophageal reflux, Gastrointestinal hemorrhage, Abnormality of the uterus...	ORPHA:567
Spastic Paraplegia 9A, Autosomal Dominant	Urinary incontinence, Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia, Short statu...	OMIM:601162
Syndromic Diarrhea	Renal hypoplasia, Intractable diarrhea, Villous atrophy, Hepatoblastoma, Gastritis, Dependency on...	ORPHA:84064
Severe Congenital Nemaline Myopathy	Edema of the dorsum of hands, Micropenis, Dysphagia, Polyhydramnios, Hypospadias	ORPHA:171430
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Short 3rd metacarpal, Low urinary cycl...	ORPHA:79444
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Gastroesophageal reflux, Chronic constipation, Bilateral cleft pala...	OMIM:618829
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Intestinal malrotation, Renal duplication, Abdominal distention, Ureteral dup...	OMIM:270420
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Wolf-Hirschhorn Syndrome	Hypospadias, Pseudoepiphyses of the metacarpals, Short thumb, Preaxial hand polydactyly, Preaxial...	OMIM:194190
Andersen-Tawil Syndrome	Renal hypoplasia, Renal tubular dysfunction, High palate	ORPHA:37553
Ring Chromosome 12 Syndrome	Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly, Syndactyly	ORPHA:1439
Opitz Gbbb Syndrome	Aortic root aneurysm, Ankyloglossia, Cryptorchidism, Ventricular septal defect, Atrial septal def...	ORPHA:2745
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Talipes valgus, Horseshoe kidney, Overla...	ORPHA:221120
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Drumstick terminal phalanges, Brachydactyly	OMIM:612938
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Congenital hip dislocation, Growth delay, Flared metaphysis, Dis...	OMIM:616007
Renpenning Syndrome	High, narrow palate, Decreased testicular size, Anal atresia, Hypospadias, Cleft palate	ORPHA:3242
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Clinodactyly, Overlapping toe, Hydronephrosis, Camptodact...	OMIM:616737
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Clitoral hypertrophy, Cryptorchidism, Polycystic kidney dysplasia, Cleft palate, P...	OMIM:214110
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abnormality of the urethra, Abnormal vagina morphology, Acute hepati...	ORPHA:537
Pagod Syndrome	Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g...	ORPHA:991
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Acute colitis, Intestinal perforation, Hemoglobinuria, Colonic steno...	ORPHA:90038
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Rhombencephalosynapsis	Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly, Polydactyly	ORPHA:59315
Raine Syndrome	Hydroureter, Micromelia, Long hallux, Neonatal death, Bowing of the long bones, Hydronephrosis, B...	OMIM:259775
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis, Delayed cranial suture closure, Postnatal growth retardation, Intraute...	OMIM:616603
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Luscan-Lumish Syndrome	Short stature, Advanced ossification of carpal bones, Irregular menstruation	OMIM:616831
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Renal hypoplasia, Vesicoureteral reflux, High palate, Feeding difficul...	OMIM:620654
Syngap1-Related Developmental And Epileptic Encephalopathy	High palate, Hypospadias	ORPHA:544254
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the palmar creases, Prominent metopic ridge, Nephrolithiasis, Abnormality of the k...	ORPHA:521445
Czech Dysplasia	Short toe, Flat capital femoral epiphysis, Narrow iliac wing, Coxa vara, Narrow femoral neck, Sho...	OMIM:609162
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Tapered finger	OMIM:619680
Autosomal Recessive Spondylocostal Dysostosis	Umbilical hernia, Abnormal morphology of female internal genitalia, Anomalous pulmonary venous re...	ORPHA:2311
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Bifid scrotum, Hypospadias, Cleft palate	ORPHA:66629
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Dark urine, Renal cyst, Steatorrhea, Fat malabsorption	ORPHA:79303
Pili Torti-Onychodysplasia Syndrome	Cutaneous syndactyly, Palmoplantar keratoderma	ORPHA:2890
X-Linked Intellectual Disability, Cilliers Type	Male hypogonadism, Decreased testicular size, Cryptorchidism, Hypospadias, Hypergonadotropic hypo...	ORPHA:163971
Koolen-De Vries Syndrome	Slender finger, Prominent fingertip pads, Recurrent urinary tract infections, Intrauterine growth...	OMIM:610443
Kabuki Syndrome 2	Short 5th finger, Prominent fingertip pads, Horseshoe kidney, Postnatal growth retardation, Intra...	OMIM:300867
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Knee flexion contracture, Hydronephrosis, Short long bone, Bilateral t...	OMIM:620454
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Colonic atresia, Anteriorly placed anus, Histiocy...	OMIM:309801
Webb-Dattani Syndrome	Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Short stature, Hip disl...	OMIM:615926
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Camptodactyly, Talipes equinovarus, Brachydactyly, Clinodactyly	ORPHA:397709
14Q22Q23 Microdeletion Syndrome	Small scrotum, Renal hypoplasia, Cryptorchidism	ORPHA:264200
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia, Glossoptosis	ORPHA:2031
Ppoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ...	ORPHA:97278
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Aplasia/hypoplasia involving bones of the extremi...	ORPHA:508533
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Postnatal growth retardation, Epiphyseal stippling,...	OMIM:619135
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia, Protuberant abdomen, Abdominal distention, Polycystic...	OMIM:619879
Fg Syndrome Type 1	Gastroesophageal reflux, Abnormal large intestine morphology, Umbilical hernia, Cryptorchidism, M...	ORPHA:93932
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly of the 5th finger, Clinodactyly, Single transverse palmar crease	ORPHA:73272
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Talipes equinovarus, Cubitus valgus, Micropenis, Brachydactyly, L...	OMIM:300534
Arthrogryposis Multiplex Congenita 6	Polyhydramnios, Hypospadias	OMIM:619334
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy...	OMIM:114290
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urinary tract infec...	ORPHA:3467
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Camptodactyly, Abnormality of the hand, Clinodactyly, Syndactyly	ORPHA:369891
Rapadilino Syndrome	Aplasia/Hypoplasia of the radius, Absent thumb, Aplasia/Hypoplasia of the patella	OMIM:266280
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopa...	ORPHA:2556
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Disproportionate short stature, Abnormal epiphysis morphology, Micromelia, Hypoplastic iliac wing...	ORPHA:2637
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Disproportionate short-limb short stature, Ne...	OMIM:225500
Martsolf Syndrome 1	Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Avascular necrosis of the capital fe...	OMIM:212720
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Hydronephrosis, Micropenis, Growth delay, Short femur	OMIM:617798
Alg8-Cdg	Camptodactyly, Talipes equinovarus, Brachydactyly	ORPHA:79325
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
Intellectual Disability-Strabismus Syndrome	Gastroesophageal reflux, Medullary nephrocalcinosis, Cryptorchidism, Recurrent gastroenteritis, M...	ORPHA:363528
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Decreased fertility, Renal salt wasting, Decreased testicular size, Abnorma...	ORPHA:90794
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Exocrine pancreatic insufficienc...	ORPHA:508498
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Foot polydactyly, Hand polydactyly, Toe syndactyly, Finger syndactyly	ORPHA:60040
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Micromelia, Crumpled long bones, Delayed cranial suture closure, Hydronephrosis, Worm...	OMIM:610682
Myhre Syndrome	Severe short stature, Hypospadias, Abnormal penis morphology, Abnormal epiphysis morphology, Hypo...	ORPHA:2588
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Cryptorchidism, Patent foramen ovale, Micropenis, Polyhydramnios, Hypospadias, Pat...	OMIM:607143
Occipital Horn Syndrome	Persistent open anterior fontanelle, Ureteral obstruction, Genu valgum, Limited elbow extension, ...	OMIM:304150
Chromosome 13Q33-Q34 Deletion Syndrome	Hypospadias, Penoscrotal transposition, Anteriorly placed anus, Bifid scrotum, Encephalocele, Cry...	OMIM:619148
Floating-Harbor Syndrome	Nephrocalcinosis, Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of t...	OMIM:136140
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hydronephrosis, Talipes equinovarus, Brachydactyly, Abnormali...	ORPHA:847
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Bulbous tips of toes, 2-3 toe syndactyly, Hydronephrosis, Lon...	ORPHA:163979
Rere-Related Neurodevelopmental Syndrome	Gastroesophageal reflux, Abnormal heart morphology, Vesicoureteral reflux, Cryptorchidism, Ventri...	ORPHA:494344
Mirage Syndrome	Gastroesophageal reflux, Microphallus, Recurrent urinary tract infections, Decreased testicular s...	OMIM:617053
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Hyperechogenic kidneys, Rhizomelic arm shortening, Proximal femoral metaph...	ORPHA:397715
Noonan Syndrome 13	Clinodactyly, Overlapping toe, Limited elbow extension, Prominent metopic ridge, Cubitus valgus, ...	OMIM:619087
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Clinodactyly, Postnatal growth retardation, Short proximal phalanx of the 5th fing...	ORPHA:261323
Restrictive Dermopathy 2	Gastroesophageal reflux, Rectal prolapse	OMIM:619793
Ulbright-Hodes Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Renal hypoplasia, Enlarged labia minora, Cryptor...	ORPHA:3404
Thoracoabdominal Syndrome	Renal agenesis, Anencephaly, Transposition of the great arteries, Ectopia cordis, Hypospadias, Pa...	OMIM:313850
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Cryptorchidism, Po...	ORPHA:110
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Vomiting, Cryptorchidism, Hydron...	ORPHA:464311
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Shor...	ORPHA:2750
Grfoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ...	ORPHA:97261
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Brachydactyly	OMIM:620156
Al Kaissi Syndrome	Small hand, Clinodactyly, Deep palmar crease	OMIM:617694
Insulin-Like Growth Factor I, Resistance To	Small hand, Sandal gap, Clinodactyly, Short finger, Radial deviation of finger, Short foot	OMIM:270450
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Down-sloping shoulders, Slender toe, Deviation of the 5th toe	ORPHA:391408
Congenital Disorder Of Glycosylation, Type Iie	Intrauterine growth retardation, Overlapping fingers, Hydronephrosis, Neurogenic bladder, Adducte...	OMIM:608779
Trisomy 8Q	Deep palmar crease, Brachydactyly, Camptodactyly of finger	ORPHA:1752
Acrocallosal Syndrome	Hypospadias, Cryptorchidism	ORPHA:36
8P Inverted Duplication/Deletion Syndrome	Abnormality of the urinary system, Small hypothenar eminence, Hydronephrosis, Long fingers, Micro...	ORPHA:96092
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short foot, Hypospadias,...	ORPHA:93357
Frontorhiny	Brachydactyly, Finger clinodactyly, Camptodactyly of finger	ORPHA:391474
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal hand morphology, Small hand, Short phalanx of finger, Broad finger	OMIM:300845
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Feeding difficulties in infancy	OMIM:614862
Glucagonoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ...	ORPHA:97280
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Clitoral hypertrophy, Abnormal labia majora morphology, Decreased testicular size, Ambiguous geni...	ORPHA:90791
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypogonadism, Ileus, Aganglionic megacolon, Constipation, Abdominal pain	ORPHA:163746
Meacham Syndrome	Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina, En...	OMIM:608978
Lymphatic Malformation 6	Facial edema, Generalized edema, Gastroesophageal reflux, Chylothorax, Lymphedema, Ascites, Intes...	OMIM:616843
Pitt-Hopkins Syndrome	Short fifth metatarsal, Small hand, Clinodactyly, Prominent fingertip pads, Overlapping toe, Sing...	OMIM:610954
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Hydroureter, Ectrodactyly, Camptodactyly of finger, Oligodactyly, Hydroneph...	ORPHA:2273
Orofaciodigital Syndrome Xix	Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Type A brachydactyly, Postaxial hand po...	OMIM:620107
Hyperphosphatasia-Intellectual Disability Syndrome	Clinodactyly, Hydronephrosis, Hip dysplasia, Shortening of all distal phalanges of the fingers, G...	ORPHA:247262
Fg Syndrome 5	Hypospadias	OMIM:300581
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria, High palate	OMIM:615398
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Nephroblastoma	OMIM:612918
Somatostatinoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst...	ORPHA:97283
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Renal hypoplasia, Gastroesophageal reflux, Vomiting, Hypogonadism, Decreased testi...	OMIM:309580
Lowry-Maclean Syndrome	High, narrow palate, Bilateral cryptorchidism, Atrioventricular canal defect, Coarctation of aort...	ORPHA:2409
Renpenning Syndrome 1	Renal hypoplasia, Decreased testicular size, Phimosis, Anal atresia, High palate, Hypospadias, Cl...	OMIM:309500
Floating-Harbor Syndrome	Dilatation of the renal pelvis, Clinodactyly, Broad fingertip, Dislocated radial head, Hypospadia...	ORPHA:2044
Congenital Myopathy 19	Hydronephrosis, Renal atrophy	OMIM:618578
Williams Syndrome	Nausea and vomiting, Cryptorchidism, Polycystic ovaries, Abdominal pain, Rectal prolapse, Precoci...	ORPHA:904
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Growth delay, Abnormality of the ureter, Epispadias, Brachydactyly, Ab...	ORPHA:3339
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Hydr...	OMIM:135900
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Coarctat...	OMIM:617602
Fanconi Anemia	Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Renal hypoplasia/apl...	ORPHA:84
Wiedemann-Steiner Syndrome	Short 5th finger, Small hand, Short toe, Long hallux, Contracture of the distal interphalangeal j...	OMIM:605130
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Bifid uvula, Absence of the pulmonary valve, Umbilical hernia, Cryptorchid...	OMIM:601808
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Hypospadias	OMIM:618688
Progeria-Short Stature-Pigmented Nevi Syndrome	Short distal phalanx of finger, Delayed puberty, Brachydactyly, Micropenis, Short stature, Premat...	ORPHA:2959
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ...	OMIM:613095
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Genu valgum, Short humerus, Metaphyseal dysplasia, ...	OMIM:600373
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly	ORPHA:139471
Coffin-Lowry Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Abnormal diaphysis morphology...	ORPHA:192
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Clinodactyly, Metaphyseal dysplasia	OMIM:618336
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius	OMIM:602200
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Micrognathia, Short distal phalan...	OMIM:619356
Infantile Systemic Hyalinosis	Severe short stature, Micromelia, Camptodactyly of finger, Brachydactyly, Growth delay, Short palm	ORPHA:2176
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Bilateral cryptorchidism, Decreased te...	OMIM:300998
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Toe syndactyly, Intrauterine growth retardation, Polydactyly, Arachnod...	ORPHA:464306
Pycnodysostosis	Coronal craniosynostosis, Small hand, Rhizomelia, Disproportionate short-limb short stature, Pers...	ORPHA:763
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Camptodactyly, Clinodactyly, Tapered finger	OMIM:619576
Joubert Syndrome 2	Nephronophthisis, Renal insufficiency, Renal cyst, High palate, Hypoplastic male external genitalia	OMIM:608091
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Postnatal growth retardation, Radioulnar synostosis, Hyp...	OMIM:263750
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Vomiting, Aplasia of ...	ORPHA:158684
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short distal phalanx of finger, Clinodactyly, Upper limb undergrowth, Hypoplastic iliac wing, Ava...	ORPHA:93315
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Warsaw Breakage Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Single transverse palmar crease, 2...	OMIM:613398
Kinsship Syndrome	Renal hypoplasia, Gastroesophageal reflux, Horseshoe kidney, Ankyloglossia, Chronic constipation	OMIM:619297
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial deviation ...	OMIM:180700
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Short fourth metatarsal, Single transverse palmar crease, Short 4...	OMIM:618143
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Small hand, Toe syndactyly, Hydroureter, Single transverse palmar crease, Limit...	OMIM:610759
Blepharophimosis-Impaired Intellectual Development Syndrome	Gastroesophageal reflux, Enuresis, Recurrent urinary tract infections, Cryptorchidism, Labial hyp...	OMIM:619293
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Slender long bone, Delayed cranial suture closure, Tibial bowing,...	OMIM:601812
Musculocontractural Ehlers-Danlos Syndrome	Slender finger, Functional abnormality of the bladder, Horseshoe kidney, Recurrent joint dislocat...	ORPHA:2953
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Ulnar deviation of the hand or of fingers of the hand, Epiphyseal stippling, Singl...	OMIM:214100
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Feeding difficulties	ORPHA:445038
Macrodactyly	Macrodactyly	OMIM:155500
Methylcobalamin Deficiency Type Cble	Clinodactyly, Syndactyly	ORPHA:2169
Basel-Vanagaite-Smirin-Yosef Syndrome	2-3 toe syndactyly, Hydronephrosis, Hypospadias, Single transverse palmar crease	OMIM:616449
Erdheim-Chester Disease	Abnormal epiphysis morphology, Renal insufficiency, Abnormal metaphysis morphology, Joint swellin...	ORPHA:35687
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Hepatic failure, Multiple small medullary r...	OMIM:118450
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Tibial torsion, Delayed cranial suture closure, Overlapping toe, Vesicoureteral reflux, 2-3 toe s...	OMIM:618653
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ...	OMIM:210710
8Q22.1 Microdeletion Syndrome	Sandal gap, Craniosynostosis, Finger syndactyly, Camptodactyly of finger	ORPHA:178303
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Oligohydramnios, Dysphagia	OMIM:618253
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Subm...	OMIM:619103
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Diarrhea, Vomiting, Low-molecular-weight p...	ORPHA:18
Kleefstra Syndrome 1	Single transverse palmar crease, Talipes equinovarus, Abnormal renal morphology, Brachydactyly, M...	OMIM:610253
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Small hand, Finger syndactyly	ORPHA:1787
Okamoto Syndrome	Urinary incontinence, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, I...	ORPHA:2729
Seckel Syndrome 2	Hypospadias, Microglossia, Ectopic kidney	OMIM:606744
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of the 5th finge...	ORPHA:158687
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Vomiting, Glycosuria, Renal c...	OMIM:231680
Craniofrontonasal Syndrome	Axillary pterygium, Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndactyly, Broad hallux...	OMIM:304110
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Hydroureter, Urinary retent...	ORPHA:90324
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Unilateral renal agenesis, Renal agenesis, Anteriorly placed anus, Rectovagin...	OMIM:608980
Mosaic Trisomy 1	Renal cortical cysts, Penile hypospadias, Renal cyst, Micropenis, Cleft palate	ORPHA:1692
Maternal Phenylketonuria	Clinodactyly, Intrauterine growth retardation, Bifid distal phalanx of the thumb, Abnormal renal ...	ORPHA:2209
Intellectual Developmental Disorder, Autosomal Dominant 23	Hypospadias	OMIM:615761
Acute Transverse Myelitis	Urinary retention, Priapism, Urinary bladder sphincter dysfunction, Gastroparesis, Paralytic ileu...	ORPHA:139417
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Pterygium, Dumbbell-shaped humerus, Femoral bowing,...	OMIM:211350
Trisomy 18	Deviation of finger, Growth delay, Camptodactyly of finger, Abnormal hip bone morphology, Intraut...	ORPHA:3380
Meckel Syndrome, Type 3	Multicystic kidney dysplasia, Cleft palate	OMIM:607361
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Prominent calcaneus, Ankle clonus	ORPHA:565624
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Disproportionate short-limb short stature, Trident pelvis, Short humerus, Bowed humerus, Brachyda...	OMIM:619479
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Delayed cranial suture closure, Duplication of thumb phalanx, Hydronephrosis, Abnorm...	ORPHA:2995
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal joint morphology, Metaphyseal dysplasia, Genu varum, Metaphyseal chondromatosis of ulna,...	ORPHA:99646
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Exocrine pancreatic insufficiency, Renal hypoplasia, Cryptorchidism, Feeding difficulties	OMIM:620005
Short Stature-Micrognathia Syndrome	Small scrotum, Gastroesophageal reflux, Cryptorchidism, Ventricular septal defect, Penoscrotal hy...	OMIM:617164
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Distal Xq28 Microduplication Syndrome	Clinodactyly, Metatarsus adductus	ORPHA:293939
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ileus, Constipation	ORPHA:52503
Cerebellar-Facial-Dental Syndrome	Severe short stature, Infancy onset short-trunk short stature, Slender long bone, Ureteropelvic j...	ORPHA:444072
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Diamond-Blackfan Anemia 5	Hypospadias, Ventricular septal defect	OMIM:612528
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Hypogonadism, Postaxial polydactyly, Brac...	OMIM:209900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Colonic diverticula, Gastroesophageal reflux, Gastric ulcer, Esophageal stricture, Esophageal fur...	OMIM:147060
Tetraamelia Syndrome 1	Absent external genitalia, Renal agenesis, Urethral atresia, Vaginal atresia, Anal atresia, Cleft...	OMIM:273395
Von Hippel-Lindau Syndrome	Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, Papillary cysta...	OMIM:193300
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Clinodactyly, Slender long bone, Limited elbow extension, Single transverse palmar crease, Hallux...	OMIM:613385
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Clinodactyly of ...	ORPHA:217346
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Radial deviation of finger, Clinodactyly	OMIM:609944
Short Syndrome	Brachydactyly, Short palm	ORPHA:3163
Macs Syndrome	Single transverse palmar crease, Brachydactyly, Short stature, Hypergonadotropic hypogonadism, Ur...	OMIM:613075
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Vomiting, Hydroureter, Ureterocele, Urinary retention, Recurrent ur...	ORPHA:79404
Fanconi Anemia, Complementation Group A	Renal agenesis, Male infertility, Horseshoe kidney, Cryptorchidism, Abnormal renal morphology, Du...	OMIM:227650
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Protuberant abdomen, Cleft palate, Enlar...	OMIM:608022
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Colonic diverticula, Recurrent urina...	OMIM:194050
Meckel Syndrome, Type 4	Renal cyst, Cleft palate	OMIM:611134
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Postnatal growth retardat...	OMIM:610832
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia, High p...	OMIM:220500
Distal Deletion 12Q	Broad hallux, Elbow flexion contracture, Overlapping toe, Vesicoureteral reflux, Single transvers...	ORPHA:96149
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Aplastic clavicle, Hypospadias, Abnormal penis morphology, Finger syndactyl...	ORPHA:2658
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly	OMIM:614520
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Hypospadias	OMIM:619759
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Abnormal morphology of female internal genit...	ORPHA:538
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina, Gastrostomy tube feeding...	ORPHA:457284
Congenital Disorder Of Glycosylation, Type Il	Villous atrophy, Polycystic kidney dysplasia	OMIM:608776
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Diets-Jongmans Syndrome	Umbilical hernia, Cryptorchidism, Ventricular septal defect, Interrupted inferior vena cava with ...	OMIM:618846
Estrogen Resistance	Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Overlapping toe, Vesicoureteral reflux, P...	OMIM:616580
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus	ORPHA:893
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Gastroesophageal reflux, Anteriorly placed anus, Absent scrotum, Cryptorchidism, Ren...	ORPHA:495875
Phosphoribosylaminoimidazole Carboxylase Deficiency	Bilateral cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Coronal hypospadias, Pol...	OMIM:619859
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ...	ORPHA:500
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Neonatal short-limb short...	ORPHA:289
Scarf Syndrome	Perineal hypospadias, Bifid scrotum, Umbilical hernia, Cryptorchidism, Micropenis, Hepatocellular...	ORPHA:3134
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Finger clinodactyly, Brachydactyly, Camptodactyly, Rocker bottom foot, Tapered finger	OMIM:601353
Arteriosclerosis, Severe Juvenile	Short phalanx of finger, Hip dysplasia	OMIM:208060
Kabuki Syndrome	Short 5th finger, Duplicated collecting system, Small hand, Abnormal localization of kidney, Shor...	ORPHA:2322
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Ileus, Cryptorchidism, Aganglionic megacolon, Long-segment a...	OMIM:609136
Osteogenesis Imperfecta	Intestinal obstruction, Nephrolithiasis, Constipation, Hypercalciuria, Dysphagia	ORPHA:666
Chromosome 16Q22 Deletion Syndrome	High palate, Hypospadias, Cryptorchidism	OMIM:614541
Cranioectodermal Dysplasia 1	Chronic kidney disease, Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radi...	OMIM:218330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Abnormal ilium morphology, Short distal phalanx of finger, Vesicoureteral reflux, Hydronephrosis,...	OMIM:614080
Noonan Syndrome 4	Short stature, Cubitus valgus, Ureteral duplication, Hydronephrosis	OMIM:610733
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Brachydactyly, Camptodactyly, Short phalanx of finger, Mesomelia, Synd...	OMIM:616894
Curry-Jones Syndrome	Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ...	OMIM:601707
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst, Secondary amenorrhea	ORPHA:488618
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Intrauterine growth retardation, Singl...	OMIM:601358
Hypoplasminogenemia	Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology, Duodenal ulcer, Ce...	ORPHA:722
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cryptorchidism, Renal cyst, Feeding difficulties in infancy, Cleft palate, ...	OMIM:614866
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Hamartoma of tongue, Septate vagina, Micropenis, Anal atresia, Esophageal diver...	OMIM:617925
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Renal insufficiency, Crypto...	ORPHA:191
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hypospadias, Multicystic kidney dysplasia, Unilateral renal agenesis, Renal agenesis, Ectrodactyl...	OMIM:308205
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Elbow flexion contracture, Proportionate short stature...	OMIM:608328
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Clinodactyly, Postnatal growth retardation, Overlapping t...	ORPHA:487796
Squalene Synthase Deficiency	Elevated urine mesaconic acid level, Bilateral cryptorchidism, Bicuspid aortic valve, Elevated ur...	OMIM:618156
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Short 3rd metaca...	ORPHA:79443
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Renal hypoplasia, Xerostomia, Abnormal salivary gland morphology, Vesicoureteral ref...	ORPHA:2363
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Proportionate short stature, Brachydactyly, Broad metatarsal, Broad ...	OMIM:277600
Combined Oxidative Phosphorylation Deficiency 7	Paralytic ileus, Dysphagia	OMIM:613559
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Cleidocranial Dysplasia 1	Aplastic clavicle, Hypoplastic scapulae, Persistent open anterior fontanelle, Hypoplastic iliac w...	OMIM:119600
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Chromosome 9P Deletion Syndrome	High, narrow palate, Narrow palate, Ventricular septal defect, Perimembranous ventricular septal ...	OMIM:158170
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess	OMIM:620534
Charge Syndrome	Renal hypoplasia, Anal stenosis, Renal agenesis, Horseshoe kidney, External genital hypoplasia, C...	OMIM:214800
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Broad palm, Syndactyly	OMIM:618505
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Female infertility, Streak ovary, Decreased fertility, Polycystic ovaries, Oligomenorrhea, Premat...	ORPHA:572333
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Nijmegen Breakage Syndrome	Sandal gap, Recurrent urinary tract infections, Intrauterine growth retardation, 2-3 toe syndacty...	OMIM:251260
Aprosencephaly Syndrome	Finger aplasia	OMIM:207770
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Opsismodysplasia	Rhizomelia, Metaphyseal cupping, Short phalanx of finger, Short long bone, Hypoplastic pubic bone...	OMIM:258480
Nablus Mask-Like Facial Syndrome	Joint contracture of the hand, Clinodactyly, Sandal gap, Single transverse palmar crease, Short h...	OMIM:608156
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Grade III vesicoureteral reflux, Urethral stricture, Chordee, Broad toe, Urinary incontinence, Sh...	OMIM:619522
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Talipes, Missing r...	ORPHA:1647
Mody	Nephropathy, Glycosuria, Exocrine pancreatic insufficiency, Renal cyst, Abnormality of the kidney...	ORPHA:552
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Humerus varus, Genu valgum, Abnormal fibula...	ORPHA:198
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Brachydact...	OMIM:263520
Seckel Syndrome 5	Clitoral hypertrophy, Cryptorchidism, High palate, Hypospadias, Cleft palate	OMIM:613823
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, High, narrow palate, Nephrocalcinosis, Abnormality of the urinary system, Gas...	ORPHA:369837
Subaortic Stenosis-Short Stature Syndrome	Short stature, Synostosis of carpal bones, Bilateral single transverse palmar creases	ORPHA:3191
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Finger syn...	ORPHA:373
Dihydropyrimidinase Deficiency	Talipes equinovarus, Short phalanx of finger	OMIM:222748
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Peripheral pulmonary artery stenosis, Atrial septal defect, Glossoptosis, Hy...	ORPHA:436003
X Small Rings	Toe syndactyly, Upper limb undergrowth, Lower limb undergrowth, 2-3 toe syndactyly, Cutaneous syn...	ORPHA:96201
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Lipodystrophy, Congenital Generalized, Type 4	Ileus, Constipation, Dysphagia, Feeding difficulties, Pyloric stenosis	OMIM:613327
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Neoplasm of the rectum, Adenomatous colonic polyposis, Adenocarcinoma of t...	ORPHA:447877
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th finger, Short foot	ORPHA:1974
Oculoauriculovertebral Spectrum With Radial Defects	Distal urethral duplication, Vesicoureteral reflux, Renal hypoplasia/aplasia, Ectopic anus, Cleft...	ORPHA:2549
Orofaciodigital Syndrome Xiv	Anteriorly placed anus, Hamartoma of tongue, Unilateral renal hypoplasia, Cryptorchidism, Aplasia...	OMIM:615948
Classical Ehlers-Danlos Syndrome	Arterial dissection, Gastroesophageal reflux, Aortic root aneurysm, Umbilical hernia, Dilatation ...	ORPHA:287
Robinow Syndrome	Webbed penis, Short distal phalanx of finger, Radioulnar dislocation, Multicystic kidney dysplasi...	ORPHA:97360
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade...	ORPHA:424016
Jacobsen Syndrome	Toe clinodactyly, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Short toe, Lon...	ORPHA:2308
Radio-Tartaglia Syndrome	Brachydactyly, Tapered finger	OMIM:619312
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Periventricular Nodular Heterotopia 9	Clinodactyly, Prominent fingertip pads, Prominent metopic ridge, Single transverse palmar crease,...	OMIM:618918
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Alg9-Cdg	Rhizomelia, Hypoplasia of the bladder, Flared metaphysis, Delayed cranial suture closure, Abnorma...	ORPHA:79328
Lymphatic Filariasis	Urethral obstruction, Abnormal scrotum morphology, Orchitis, Hematuria, Proteinuria, Vaginal hydr...	ORPHA:2035
Limb Body Wall Complex	Broad hallux, Aplasia of the proximal phalanges of the hand, Cutaneous finger syndactyly, Aplasia...	ORPHA:2369
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Paralytic ileus, Minimal change glomerulonephritis, Hematochezia, Celiac disease	OMIM:620565
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	High palate, Hypospadias, Cryptorchidism	ORPHA:98791
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hydronephrosis, Micropenis, Postaxial hand polydactyly	OMIM:235255
Meier-Gorlin Syndrome 7	Anal stenosis, Clitoral hypertrophy, Anteriorly placed anus, Duodenal stenosis, Vesicoureteral re...	OMIM:617063
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Clinodactyly	OMIM:615866
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias	OMIM:201910
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Brachydactyly, Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:1587
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Poor suck	OMIM:619518
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Vomiting, Decreased liver function, Feeding difficu...	ORPHA:26791
19P13.12 Microdeletion Syndrome	Precocious puberty, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias,...	ORPHA:254346
Bohring-Opitz Syndrome	Joint dislocation, Short toe, Overlapping toe, Mesomelic/rhizomelic limb shortening, Prominent me...	OMIM:605039
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Hepatic failure, Stage 5 chronic kidney disease, Episodic abdominal pain, Myoglo...	ORPHA:157
Cri-Du-Chat Syndrome	Single transverse palmar crease, Metatarsus adductus, Short metatarsal, Short metacarpal, High ax...	OMIM:123450
Williams-Beuren Region Duplication Syndrome	Short stature, Unilateral renal agenesis, Hydronephrosis	OMIM:609757
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Umbilical hernia, Hypertrophic cardiomyopathy, Oligohydramnios, Cryptorchidism, 3-Methylglutaconi...	OMIM:614052
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Edema, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Ade...	ORPHA:329971
Hereditary Cryohydrocytosis With Reduced Stomatin	Short stature, Postnatal growth retardation, Brachydactyly	ORPHA:168577
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Secundum atrial septal defect, Atrial septal defect, Cryptorchidism	OMIM:618109
Combined Oxidative Phosphorylation Defect Type 7	Paralytic ileus, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy	ORPHA:254930
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Vaginal atresia, Abnormal renal morphology, Hypoplastic labia majora, Fused labia minora	OMIM:207410
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Mitochondrial Dna Depletion Syndrome 19	Hydrocele testis, Hypospadias	OMIM:618972
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Oligohydramnios, Vesicoureteral reflux...	ORPHA:163956
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Craniosynostosis...	ORPHA:1521
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de...	OMIM:269500
Joubert Syndrome 14	Renal cyst, Cleft palate	OMIM:614424
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Talipes equinovarus,...	OMIM:265000
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Acute hepatic failure, Renal i...	ORPHA:36426
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Postnatal growth re...	ORPHA:96334
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Heterotaxy, Visceral, 5, Autosomal	Renal hypoplasia, Ureteral stenosis, Intestinal malrotation, Ureteral duplication, Duodenal atresia	OMIM:270100
Tuberous Sclerosis 1	Precocious puberty, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Micromelia, Finger syndactyly, Mesomelia	ORPHA:1908
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Noonan Syndrome 14	Clinodactyly, Limited elbow extension, Cubitus valgus, Deep palmar crease, Scapular winging	OMIM:619745
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Vaginal neoplasm, Stomach cancer, Intestinal polyposis, Nephroblast...	ORPHA:1052
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short humerus, Brachydactyly, Short stature, Short metacarpal	ORPHA:508542
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Cleft palate, Feeding difficulties, Pylori...	ORPHA:261197
Alg12-Cdg	Gastroesophageal reflux, Biventricular hypertrophy, Muscular ventricular septal defect, Intestina...	ORPHA:79324
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Episodic abdominal pain, Hypoplasia of the uterus, Primary amenorrhea	ORPHA:785
Chops Syndrome	Horseshoe kidney, Vesicoureteral reflux, Cervical C2/C3 vertebral fusion, Brachydactyly, Short st...	OMIM:616368
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Hepatic failure, Colonic diverticula, Anteriorly placed anus, Exocrine panc...	OMIM:243800
Acrocallosal Syndrome	Hypospadias, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	OMIM:200990
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Genu valgum, Abnormal morphology of ulna, Hydronephrosis, Cubitus valgu...	ORPHA:1340
Cree Impaired Intellectual Development Syndrome	Cleft soft palate, Hypospadias, Cryptorchidism, Bifid scrotum	OMIM:606851
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Short Syndrome	Radial deviation of finger, Slender long bone, Clinodactyly, Enlarged epiphyses	OMIM:269880
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Small hand, Proportionate shortening of all digits, Abnormal renal co...	ORPHA:280633
Mitochondrial Complex I Deficiency, Nuclear Type 37	High palate, Hypospadias, Stroke-like episode	OMIM:619272
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Horseshoe kidney, Aplasia of the epiglottis, Postaxial polydactyly, Short ...	OMIM:617088
Scalp-Ear-Nipple Syndrome	Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency	OMIM:181270
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	High palate, Hypospadias, Cryptorchidism, Renal dysplasia	OMIM:300004
Woodhouse-Sakati Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici...	OMIM:241080
Constricting Bands, Congenital	Talipes equinovarus, Hand polydactyly, Syndactyly	OMIM:217100
Hamamy Syndrome	Neck pterygia, Down-sloping shoulders, Long toe, Tapered finger, Long fingers, Hip dysplasia, Sho...	OMIM:611174
Leprechaunism	Megarectum, Nephrocalcinosis, Long penis, Clitoral hypertrophy, Overgrowth of external genitalia,...	ORPHA:508
Trichohepatoenteric Syndrome 1	Bifid uvula, Galactosuria, Tetralogy of Fallot, Renal cortical microcysts, Large placenta, Villou...	OMIM:222470
Renal-Hepatic-Pancreatic Dysplasia 1	Intestinal malrotation, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Urete...	OMIM:208540
Cdags Syndrome	Rectourethral fistula, Anal atresia, Rectovaginal fistula, Hypospadias, Cleft palate	OMIM:603116
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Red-brown urine, Hepatic failure, Dicarboxylic aciduria, Feeding difficultie...	ORPHA:228308
Mitochondrial Trifunctional Protein Deficiency	Equinus calcaneus	ORPHA:746
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Gastroesophageal reflux, Cryptorchidism, Dysphagia, High palate, Hypospadias	OMIM:300260
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me...	OMIM:109400
Chand Syndrome	Bifid tongue, Imperforate hymen, Hydroureter, Cleft palate	ORPHA:1401
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Uretero...	OMIM:280000
46,Xx Sex Reversal 1	Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia...	OMIM:400045
19P13.13 Microdeletion Syndrome	Sandal gap, Clinodactyly, Long fingers	ORPHA:357001
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Brachydactyly, Absent fourth finger distal interphalangeal crease, Contracture ...	OMIM:618050
Intellectual Developmental Disorder, Autosomal Dominant 42	Hand clenching, Limited elbow extension, Ureteropelvic junction obstruction, Narrow palm, Hydrone...	OMIM:616973
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Furrowed tongue, Vesicoureteral reflux, Cryptorchidism, Renal cyst, High...	OMIM:616975
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Recurrent urinary tract infections, Single transverse palmar crease, H...	OMIM:612541
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Overlapping toe, Clinodactyly of the 4th finger, Intrauterine growth re...	ORPHA:177907
3Q29 Microdeletion Syndrome	Gastroesophageal reflux, Horseshoe kidney, Subvalvular aortic stenosis, High palate, Hypospadias,...	ORPHA:65286
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Intestinal polyp, Cryptorchidism	ORPHA:457485
Neu-Laxova Syndrome 2	Rocker bottom foot, Toe syndactyly, Finger syndactyly	OMIM:616038
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia...	OMIM:256520
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Mitral valve prolapse, Bilateral cleft palate, Macroorchidism, High palate, Hyposp...	OMIM:618874
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, High, narrow palate, Gastroesophageal reflux, Ankyloglossia, Unilateral renal...	OMIM:619950
Microphthalmia, Syndromic 6	Small scrotum, Renal hypoplasia, Bifid uvula, Microglossia, Cryptorchidism, Female hypogonadism, ...	OMIM:607932
Fraser Syndrome 3	Cutaneous syndactyly, Short toe, Stillbirth	OMIM:617667
Tuberous Sclerosis 2	Precocious puberty, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Absence of renal cort...	OMIM:613254
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Short clavicles, Acroosteolysis of distal phalanges (feet), Wormi...	OMIM:608612
Primary Ciliary Dyskinesia	Intestinal malrotation, Abnormal sperm motility, Female infertility, Male infertility	ORPHA:244
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb	OMIM:619239
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Ileal atresia, Gonadal dysgenesis, Streak ovary, Cryptorc...	OMIM:618820
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
Cardiofaciocutaneous Syndrome 1	Hydronephrosis, Cubitus valgus, Deep palmar crease, Short stature, Clinodactyly of the 5th finger...	OMIM:115150
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolit...	OMIM:600740
Ohdo Syndrome, X-Linked	Short thumb, Clinodactyly, Overlapping toe, Long thumb, Ulnar deviation of the hand, Hip dysplasia	OMIM:300895
Nizon-Isidor Syndrome	High, narrow palate, Upper eyelid edema, Gastroesophageal reflux, Hypospadias	OMIM:618872
1P36 Deletion Syndrome	Gastroesophageal reflux, Abnormal female external genitalia morphology, Hypogonadism, Cryptorchid...	ORPHA:1606
Hydrolethalus Syndrome 1	Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardation, H...	OMIM:236680
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias	ORPHA:782
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Tibial torsion, Camptodactyly of finger, Elbow flexion contracture, Joint contractu...	OMIM:602782
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Chronic diarrhea, Intestinal obstruction	OMIM:600802
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Enuresis, Single transverse palmar crease, Hydronephrosis...	ORPHA:96121
Beckwith-Wiedemann Syndrome	Macroglossia, Nephrocalcinosis, Overgrowth of external genitalia, Renal cortical cysts, Vesicoure...	OMIM:130650
Adnp Syndrome	Urinary incontinence, Broad thumb, Sandal gap, Broad hallux, Recurrent urinary tract infections, ...	ORPHA:404448
White-Sutton Syndrome	Duplicated collecting system, Broad thumb, Intrauterine growth retardation, Wormian bones, Brachy...	OMIM:616364
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Clinodactyly, Single transverse palmar crease, Clinodactyly of the 5th finger, Cranio...	OMIM:614114
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Bifid scrotum, Encephalocele, Exencephaly, Shawl scrotum, Hypospadias,...	ORPHA:2211
X-Linked Intellectual Disability Due To Gria3 Mutations	Short stature, Genu recurvatum, Hydronephrosis, Micropenis	ORPHA:364028
Myhre Syndrome	Cone-shaped epiphysis, Short toe, Clinodactyly, Short finger, Radial deviation of finger, Hypopla...	OMIM:139210
Lower Urinary Tract Obstruction, Congenital	Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U...	OMIM:618612
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Brachydactyly, Aplasia of ...	ORPHA:364577
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Kbg Syndrome	Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly	ORPHA:2332
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Multicystic kidney dysplasia, Double out...	ORPHA:1596
Fraser Syndrome	Small scrotum, Anal stenosis, Abnormality of the urinary system, Abnormal vagina morphology, Anor...	ORPHA:2052
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	High palate, Hypospadias	ORPHA:363686
Meckel Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, ...	ORPHA:564
Oculodentodigital Dysplasia	Clinodactyly, 3-4 toe syndactyly, Joint contracture of the 5th finger, Cubitus valgus, 4-5 finger...	OMIM:164200
Alveolar Echinococcosis	Vomiting, Decreased liver function, Hepatic cysts, Abnormal bladder morphology, Renal cyst, Abdom...	ORPHA:284
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Abnormality of the uterus, Intestinal malrotation, Amb...	OMIM:249000
Autosomal Dominant Robinow Syndrome	Severe short stature, Abnormal penis morphology, Finger syndactyly, Elbow dislocation, Camptodact...	ORPHA:3107
Rubinstein-Taybi Syndrome 1	Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Postnatal growth retardation...	OMIM:180849
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Renal hypoplasia, Gastroesophageal reflux, Recurrent urinary tract infections, High palate, Recta...	OMIM:617157
Schinzel-Giedion Syndrome	Anteriorly placed anus, Abnormality of the ureter, Streak ovary, Nephroblastoma, Nephrolithiasis,...	ORPHA:798
Trisomy 10P	Gastroesophageal reflux, Multiple renal cysts, Abnormality of the kidney, High palate, Rectovagin...	ORPHA:171929
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, C...	OMIM:148050
Down Syndrome	Sandal gap, Decreased fertility, Bilateral single transverse palmar creases, Renal hypoplasia/apl...	ORPHA:870
Duane Retraction Syndrome	Preaxial hand polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Triphalangeal th...	ORPHA:233
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short toe, Recurrent mandibular subluxations, Limb undergrowth, Delayed closure of the anterior f...	OMIM:225410
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Arboleda-Tham Syndrome	Sandal gap, Enlarged proximal interphalangeal joints, Recurrent urinary tract infections, Intraut...	OMIM:616268
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Faciodigitogenital Syndrome, Autosomal Recessive	Down-sloping shoulders, Vertebral fusion, Broad palm, Metatarsus adductus, Camptodactyly, Clinoda...	OMIM:227330
Histiocytoid Cardiomyopathy	Renal cyst, Vomiting, Cleft palate, Polycystic ovaries	ORPHA:137675
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Bilateral talipes equinovarus, Equinus calcaneus, 2-3 toe syndactyly	ORPHA:522077
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Cryptorchidism, Submucous cleft soft palate, Male pseudohermaphroditism, Shawl...	ORPHA:2282
Woodhouse-Sakati Syndrome	Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Prem...	ORPHA:3464
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia, Cleft palate	OMIM:616546
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Postnatal growth retardation, Abnormal metacarpal morphology, Absent radius, Hyposp...	OMIM:268300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Intrauterine growth retardation, Vesicoureteral reflux, Abnormal bladder morphology, Hydronephros...	ORPHA:453499
Turner Syndrome Due To Structural X Chromosome Anomalies	High, narrow palate, Inflammation of the large intestine, Female infertility, Celiac disease, Abn...	ORPHA:99413
Caroli Disease	Vomiting, Nausea, Abdominal rigidity, Cholangiocarcinoma, Anorexia, Abdominal pain, Polycystic ki...	ORPHA:53035
Mosaic Monosomy X	High, narrow palate, Inflammation of the large intestine, Female infertility, Celiac disease, Abn...	ORPHA:99228
Monosomy X	High, narrow palate, Inflammation of the large intestine, Female infertility, Celiac disease, Abn...	ORPHA:99226
Turner Syndrome	High, narrow palate, Inflammation of the large intestine, Female infertility, Celiac disease, Abn...	ORPHA:881
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Postnatal growth retardation, Overlapping toe, Contracture of the dista...	ORPHA:83617
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Hypertrophic cardiomyopathy, Complete atrioventricular ca...	OMIM:151100
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Camptodactyly, Clinodactyly	OMIM:617360
Chromosome 8Q21.11 Deletion Syndrome	Camptodactyly, Short metacarpal, Absent palmar crease, Syndactyly	OMIM:614230
Genitopatellar Syndrome	Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Anal stenosis, Malrotation of ...	OMIM:606170
Phelan-Mcdermid Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Abnormality of the kidney, Episodic vomiting, Hig...	OMIM:606232
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Disproportionate short-limb short stature, Short toe, Micromelia, Mul...	ORPHA:709
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Hypoplastic iliac wing, Single transverse pa...	OMIM:190685
Meester-Loeys Syndrome	Broad distal phalanx of finger, Joint dislocation, Arachnodactyly, Brachydactyly, Camptodactyly	OMIM:300989
Kid Syndrome	Palmoplantar keratoderma, Patellar hypoplasia, Postnatal growth retardation, Equinus calcaneus, D...	ORPHA:477
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent fingertip pads, Single transverse palmar crease, Brachydactyly, Pelvic kidney, Dilatati...	ORPHA:466950
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria	OMIM:601539
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou...	OMIM:610644
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pectoral muscle hypoplasia/aplasia, Brachydactyly, Finger clinodactyly, Camptodactyly of finger	ORPHA:306542
Poliomyelitis	Vomiting, Paralytic ileus, Anorexia, Nausea, Dysphagia	ORPHA:2912
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Joint dislocation, Recurrent urinary tract infections, Horsesho...	ORPHA:3310
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Short thumb, Chordee, Brachydactyly, Clinodactyly of the 5th finger, Hypospadias, Tapered finger	ORPHA:477993
Orofaciodigital Syndrome I	Clinodactyly, Radial deviation of finger, Polydactyly, Proteinuria, Brachydactyly, Short 2nd toe,...	OMIM:311200
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Renal dysplasia, Feeding difficulties	OMIM:617260
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Broad hallux, Brachydactyly, Single transverse palmar crease	OMIM:617062
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Anal atresia, Persistent cloaca	OMIM:615709
Diamond-Blackfan Anemia 1	Colon cancer, Renal hypoplasia, Cleft palate, High palate	OMIM:105650
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology	OMIM:613026
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Joint dislocation, Prominent fingertip pads, Recurrent urinary tract infections, Pos...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Joint dislocation, Prominent fingertip pads, Recurrent urinary tract infections, Pos...	ORPHA:363958
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Camptodactyly, Clinodactyly	ORPHA:228426
Kaposiform Lymphangiomatosis	Pancreatic cysts, Multiple renal cysts, Enlarged kidney, Metrorrhagia	ORPHA:464329
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular septal defect, 3-Methylglu...	ORPHA:66634
Netherton Syndrome	Short stature, Hydronephrosis, Ectopic kidney, Aminoaciduria	ORPHA:634
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hiatus hernia, Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:610199
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a...	OMIM:610168
Scarf Syndrome	Bifid scrotum, Umbilical hernia, Cryptorchidism, Micropenis, Perineal hypospadias	OMIM:312830
Joubert Syndrome 1	Nephropathy, Renal cyst, Macroglossia, Protruding tongue	OMIM:213300
Toriello-Carey Syndrome	Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Brachydactyly, Short...	ORPHA:3338
Ulnar-Mammary Syndrome	Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ...	OMIM:181450
Charge Syndrome	Bifid femur, Abnormal tibia morphology, Postnatal growth retardation, Intrauterine growth retarda...	ORPHA:138
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Joint dislocation, Short toe, Ulnar deviation of the 2nd finger,...	OMIM:616145
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Carpal synostosis, Horseshoe kidney, Fusion of middle ear ossicles, Vesico...	OMIM:157800
Sacral Defect With Anterior Meningocele	Hydromyelia, Urinary retention, Myelomeningocele, Myeloschisis, Neurogenic bladder, Rectal absces...	OMIM:600145
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Gonadal dysgenesis, Hypoplastic labia majora, Anal atresia, Hypoplasia...	OMIM:618419
Hajdu-Cheney Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Bowing of the lo...	ORPHA:955
Lenz-Majewski Hyperostotic Dwarfism	Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexion contract...	OMIM:151050
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Abnormality of the urethra, Oral leukoplakia, Ankyloglossia, Abnormal renal tubule mo...	ORPHA:2907
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Prader-Willi Syndrome	Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm, Hip dysplasia, Ac...	OMIM:176270
Diabetic Embryopathy	Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia	ORPHA:1926
Micro Syndrome	Intrauterine growth retardation, Hydronephrosis, Delayed puberty, Short stature, Abnormal localiz...	ORPHA:2510
Gorlin Syndrome	Arachnodactyly, Palmar pits, Vertebral fusion, Brachydactyly	ORPHA:377
Noonan Syndrome	Dilatation of the renal pelvis, Delayed menarche, Postnatal growth retardation, Radioulnar synost...	ORPHA:648
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Male infertility	ORPHA:2239
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Anal stenosis, Anteriorly placed anus	OMIM:248450
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerul...	OMIM:267010
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypoplastic female external genitalia, Hypospadias	OMIM:177980
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Gastroesophageal reflux, Hypertrophic cardiomyopathy, Renal tubular acidosis, Dysphagia, Hypospadias	OMIM:615471
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Micrognathia, Absent thumb, Short thumb	OMIM:613951
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Micropenis, Vaginal dryness, Hypospadias, Patent ductus arteriosus, Cl...	OMIM:106260
Carpenter Syndrome 2	Broad thumb, Preaxial polydactyly, Cutaneous finger syndactyly, Bilateral postaxial polydactyly, ...	OMIM:614976
Microphthalmia, Syndromic 1	High, narrow palate, Renal hypoplasia, Hydroureter, Cryptorchidism, Renal hypoplasia/aplasia, Aga...	OMIM:309800
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy, Hypospadias, Cryptorchidism, Cleft palate	OMIM:603736
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad thumb, Postnatal growth retardation, Abnormality of the kidney, Patellar dislocation, Hypos...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad thumb, Postnatal growth retardation, Abnormality of the kidney, Patellar dislocation, Hypos...	ORPHA:353277
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Vesicoureteral reflux, Metopic synostosis, Postaxial polydactyly, Ta...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Vesicoureteral reflux, Metopic synostosis, Postaxial polydactyly, Ta...	ORPHA:352665
Keutel Syndrome	Short distal phalanx of finger, Short thumb, Epiphyseal stippling, Premature fusion of phalangeal...	OMIM:245150
Microphthalmia, Syndromic 3	Cryptorchidism, Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Mic...	OMIM:206900
Kabuki Syndrome 1	Short 5th finger, Congenital hip dislocation, Joint dislocation, Prominent fingertip pads, Postna...	OMIM:147920
Wiedemann-Steiner Syndrome	Rhizomelia, Clinodactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Abnormality of...	ORPHA:319182
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Micrognathia, Aplasia of the distal phalanges of the...	ORPHA:3472
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Glandular hypospadias, Hypoplastic labia majora, Shawl scrotum, High palate, Narrow palate, Hypos...	OMIM:604314
Frank-Ter Haar Syndrome	Flared metaphysis, Delayed cranial suture closure, Bowing of the long bones, Talipes equinovarus,...	OMIM:249420
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, 2-3 toe syndactyly, Limb undergrowth, Broad toe, Broad finger, Prominent metopic ridge	ORPHA:488632
Malakoplakia	Urinary bladder inflammation, Neoplasm of the colon, Urinary hesitancy, Prostate neoplasm, Orchit...	ORPHA:556
Von Hippel-Lindau Disease	Pancreatic cysts, Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinom...	ORPHA:892
Cerebrocostomandibular Syndrome	Anal stenosis, Gastroesophageal reflux, Anteriorly placed anus, Horseshoe kidney, Cleft soft pala...	OMIM:117650
Restrictive Dermopathy	Microcolon, Small placenta, Large placenta, Short umbilical cord, Submucous cleft hard palate, Tr...	ORPHA:1662
Ayme-Gripp Syndrome	Delayed cranial suture closure, Radioulnar synostosis, Brachydactyly, Camptodactyly, Tapered finger	OMIM:601088
Mpdu1-Cdg	Renal cortical cysts, Feeding difficulties, Nasogastric tube feeding	ORPHA:79323
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Patellar hypoplasia, Metaphyseal sclerosis, Patellar aplasia, Aplasia/hypoplas...	ORPHA:221016
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Chronic hepatic failure, Feeding ...	ORPHA:1454
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Fibular aplasia, Fibular hypoplasia, Arachnodactyly, Talipes equin...	OMIM:300373
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Anteriorly placed anus, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia ma...	OMIM:123790
Microsporidiosis	Nephritis, Vomiting, Urethritis, Abnormality of the urinary system physiology, Intermittent diarr...	ORPHA:2552
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Arterial dissection, Gastroesophageal reflux, Aortic root aneurysm, Umbilica...	ORPHA:285
Developmental And Epileptic Encephalopathy 100	Small hand, Elbow flexion contracture, Single transverse palmar crease, Bilateral camptodactyly, ...	OMIM:619777
8Q24.3 Microdeletion Syndrome	Short 5th finger, Congenital hip dislocation, Microretrognathia, Micromelia, Finger clinodactyly,...	ORPHA:508488
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Acute kidney injury, Oliguria, Gastrointestinal hemorrhage, Recurrent...	ORPHA:731
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Macroglossia, Renal malrotation	OMIM:617107
Gabriele-De Vries Syndrome	Sandal gap, Intrauterine growth retardation, Sydney crease, Ureteropelvic junction obstruction, H...	ORPHA:506358
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hypospadias, Broad distal phalanx of finger, Broad thumb, Abnormality of the urinary system, Broa...	ORPHA:353281
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Talipes equinovarus, 2-3 finger syndactyly, Broad toe, Short greater sciatic notch, ...	OMIM:312870
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Gastroesophageal reflux, Abnormal renal collecting system morphology, Me...	ORPHA:17
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Abnormal preputium morphology, Oligohydramnios, Glandular hypospadias	ORPHA:293725
Fanconi Anemia, Complementation Group R	Absent thumb, Radial dysplasia	OMIM:617244
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Brachydactyly, Pelvic kidney, Dilatation of renal calices, Short...	ORPHA:466943
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, Dilatatio...	ORPHA:268261
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hypospadias, Hydrops fetalis, Micropenis	OMIM:613673
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Short toe, Brachydactyly, Finger syndactyly	ORPHA:1519
Autosomal Dominant Kenny-Caffey Syndrome	Growth delay, Delayed cranial suture closure, Postnatal growth retardation, Intrauterine growth r...	ORPHA:93325
Mosaic Trisomy 20	Clinodactyly, Down-sloping shoulders, Limited pronation/supination of forearm, Vertebral fusion, ...	ORPHA:1724
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Female pseudohermaphroditism, Cryptorchidism, Ren...	ORPHA:1308
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Feeding difficulties	OMIM:609180
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, H...	ORPHA:480880
Diamond-Blackfan Anemia	Renal agenesis, Abnormal heart morphology, Horseshoe kidney, Cleft soft palate, Radial artery apl...	ORPHA:124
Fanconi Anemia, Complementation Group Q	Absent thumb	OMIM:615272
White-Kernohan Syndrome	Hydroureter, Horseshoe kidney, Hydronephrosis, Metopic synostosis, Hip dysplasia	OMIM:619426
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Renal insufficiency, Metopic synostosis, Polydactyly, Renal cyst, Brach...	OMIM:613610
Monosomy 22	Finger syndactyly, Joint swelling, Single transverse palmar crease, Clinodactyly of the 5th finge...	ORPHA:96123
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, Growth delay	ORPHA:488613
Noonan Syndrome 1	Radial deviation of finger, Clinodactyly, Hypogonadism, Postnatal growth retardation, Synovitis, ...	OMIM:163950
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Decreased liver functi...	ORPHA:449395
Mgat2-Cdg	Brachydactyly	ORPHA:79329
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Postnatal growth retardation, Intrauterine growth retardation, Hydr...	OMIM:617093
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Brain-Lung-Thyroid Syndrome	Megacystis, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Atrial septal...	ORPHA:209905
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Renal duplication, ...	ORPHA:79403
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, Metaphyseal s...	ORPHA:221008
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentrati...	ORPHA:79500
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hypospadias, Small hand, Clinodactyly, Overlapping toe, Micropenis, Brachydactyly, Camptodactyly,...	OMIM:309590
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Rhizomelia, Phalangeal cone-shaped epiphyses, Short toe, Clinodactyly of the 2nd finger, Absent m...	OMIM:266920
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Submucous cleft hard palate, Chordee, Atrial septal defect, Hypospadias	OMIM:618891
Monosomy 22Q13.3	Recurrent pyelonephritis, Vesicoureteral reflux, Hydronephrosis, Large hands, Clinodactyly of the...	ORPHA:48652
Femoral-Facial Syndrome	Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Preaxial hand polydactyly, Campto...	OMIM:134780
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Micrognathia, Narrow pa...	ORPHA:193
Beckwith-Wiedemann Syndrome	Nephropathy, Macroglossia, Urogenital fistula, Exocrine pancreatic insufficiency, Vesicoureteral ...	ORPHA:116
Ring Chromosome 13 Syndrome	Bifid scrotum, Ambiguous genitalia, Anal atresia, Urogenital sinus anomaly, Micropenis, High pala...	ORPHA:96176
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria	OMIM:278300
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Bicuspid aortic valve, Chordee, Hypospadias, Esophageal ulceration	OMIM:176690
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar...	ORPHA:2215
Caroli Syndrome	Hepatic failure, Abdominal rigidity, Hematemesis, Cholangiocarcinoma, Abnormality of the kidney, ...	ORPHA:480520
Ventriculomegaly With Cystic Kidney Disease	Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid...	OMIM:219730
Jacobsen Syndrome	Clinodactyly of the 5th finger, Intrauterine growth retardation, Hypospadias, Brachydactyly	OMIM:147791
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Gastroesophageal reflux, Urogenital fistula, Oligosacchariduria,...	ORPHA:534
Pgm3-Cdg	Short stature, Brachydactyly, Membranoproliferative glomerulonephritis	ORPHA:443811
3M Syndrome	Hypospadias, Abnormal cerebral vascular morphology	ORPHA:2616
Combined Immunodeficiency-Enteropathy Spectrum	Jejunoileal ulceration, Intestinal malrotation, Ventricular septal defect, Intestinal atresia, Ga...	ORPHA:436252
Atelis Syndrome 2	Clinodactyly, Single transverse palmar crease	OMIM:620185
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Chordee, Abnormality of the kidney, Urinary inconti...	ORPHA:2152
Marfan Syndrome	Genu recurvatum, Premature osteoarthritis, Equinus calcaneus, Limited elbow extension, Arachnodac...	OMIM:154700
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Renal insufficiency	OMIM:617478
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Delayed cranial suture closure, Arachnodactyly, Talipes equinovarus, Hydroneph...	OMIM:601776
Meier-Gorlin Syndrome 3	Small scrotum, Clitoral hypertrophy, Gastroesophageal reflux, Hypoplastic labia minora, Cryptorch...	OMIM:613803
Ear-Patella-Short Stature Syndrome	High, narrow palate, Bifid uvula, Clitoral hypertrophy, Hypoplastic labia minora, Cryptorchidism,...	ORPHA:2554
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Hydronephrosis	OMIM:619179
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Wiedemann-Rautenstrauch Syndrome	Synovitis, Widely patent fontanelles and sutures, Hypospadias, Hypoplastic ilia, Wide penis, Hypo...	ORPHA:3455
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Gastroesophageal reflux, Horseshoe kidney, Penile hypospadias, Cryptorchidism, High palate, Hypos...	OMIM:620083
Chromosome 1P36 Deletion Syndrome, Proximal	Camptodactyly, Clinodactyly	OMIM:619343
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Broad hallux, Clinodactyly, 2-3 toe syndac...	OMIM:614188
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Hypoplasia of proximal radius, Horseshoe kidney, Vesicoureteral reflux, Fibular hypop...	ORPHA:444077
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Barber-Say Syndrome	Talipes equinovarus, Clinodactyly of the 5th finger, Brachydactyly	OMIM:209885
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly	OMIM:129400
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Cryptorchidism, Hyperuricosuria, Uric acid nephrolithiasis, Hi...	OMIM:300661
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Glycosuria, Exocrine pancreatic insu...	OMIM:219800
Immunodeficiency 40	Focal active colitis, Rectal fistula	OMIM:616433
Coffin-Siris Syndrome	Abnormal heart morphology, Tetralogy of Fallot, Horseshoe kidney, Cryptorchidism, Ventricular sep...	ORPHA:1465
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Clinodactyly, Broad hallux, Contracture of the proximal interphalangeal joint of the ...	OMIM:301044
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Micrognathia, Talipes equinovarus, Pes valgus, Pes planus, Cutaneou...	OMIM:620029
Bloom Syndrome	Clinodactyly of the 5th finger, Hand polydactyly, Syndactyly	OMIM:210900
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of finger, Long hallux, Ove...	OMIM:618164
Pearson Syndrome	Hepatic failure, Glycosuria, Exocrine pancreatic insufficiency, Renal insufficiency, Median cleft...	ORPHA:699
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Cryptorchidism, Chordee, Urinary incontinence, Dysphagia, Hypospadi...	ORPHA:261537
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Intrauterine growth retardation	OMIM:620327
Joubert Syndrome 21	Renal cyst, Dysphagia, Hyperechogenic kidneys	OMIM:615636
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Urethral diverticulum, Small bowel diverticula, Recurrent urinary t...	ORPHA:90349
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Fetal megacystis, Hydroureter, Neonatal death	OMIM:619362
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Feeding difficulties, Short hard palate, Glossoptosis, Cleft palate	ORPHA:1393
Neurooculorenal Syndrome	Micrognathia, Talipes equinovarus, Short hallux, Short 1st metacarpal	OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Decreased testicular size, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Hunter-Macdonald Syndrome	Umbilical hernia, Mitral valve prolapse, Bicuspid aortic valve, Hypospadias, Patent ductus arteri...	OMIM:611962
Branchioskeletogenital Syndrome	Bifid uvula, Absent external genitalia, Anteriorly placed anus, Umbilical hernia, Ureteral stenos...	ORPHA:1299
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism	OMIM:619718
Li-Fraumeni Syndrome	Stomach cancer, Prostate cancer, Neoplasm of the rectum, Testicular neoplasm, Renal neoplasm, Ova...	ORPHA:524
Microphthalmia, Syndromic 2	Aortic valve stenosis, Bifid uvula, Umbilical hernia, Septate vagina, Cryptorchidism, Mitral valv...	OMIM:300166
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Gastroesophageal reflux, Dilatation of the ventricular cavity, Decreased testicular size, Cryptor...	ORPHA:459070
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Renal...	ORPHA:805
Adams-Oliver Syndrome 1	Talipes equinovarus, Toe syndactyly, Brachydactyly	OMIM:100300
Bloom Syndrome	Gastroesophageal reflux, Recurrent urinary tract infections, Neoplasm of the colon, Azoospermia, ...	ORPHA:125
Hatipoglu Immunodeficiency Syndrome	Hypospadias, Cryptorchidism	OMIM:620331
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Duodenal adenocarcinoma, Ovarian cyst, Neoplasm of the rectum, Adenomatous...	ORPHA:454840
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Uterine neoplasm, Cardiac diverticulum, Neoplasm of the colon, Stoma...	ORPHA:440437
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Tibial torsion, Postnatal growth retardation, Talipes equinovarus, Long toe, Long...	OMIM:613355
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Finger syndactyly, Micrognathia, Bilateral single transverse palmar creases, Palm...	ORPHA:3253
Liver Disease, Severe Congenital	Aminoaciduria, Protein-losing enteropathy, Umbilical hernia, Ascites, Dilatation of the ventricul...	OMIM:619991
Mowat-Wilson Syndrome	Hypospadias, Abnormal enteric ganglion morphology, Bifid scrotum, Abnormal heart morphology, Cryp...	OMIM:235730
Restrictive Dermopathy 1	Oligohydramnios, Hydropic placenta, Short umbilical cord, Submucous cleft hard palate, Atrial sep...	OMIM:275210
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Diaphragmatic Hernia 4, With Cardiovascular Defects	2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finger, Finger syndactyly	OMIM:620025
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Cryptorchidism, Ectopic kidney, Testicular atrophy, Cerebral ede...	ORPHA:3063
Cowden Syndrome	Abnormal penis morphology, Palmoplantar keratoderma, Brachydactyly, Abnormality of the kidney, Re...	ORPHA:201
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Witteveen-Kolk Syndrome	Hypospadias, Small hand, Toe syndactyly, Growth delay, Short thumb, Clinodactyly, Radial deviatio...	OMIM:613406
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Genu valgum, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal renal ...	ORPHA:363700
Neurocardiofaciodigital Syndrome	Polydactyly, Syndactyly	OMIM:619869
Congenital Disorder Of Glycosylation, Type It	Short stature, Hydronephrosis, Delayed puberty, Growth delay	OMIM:614921
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broad hallux, Mesoaxial fo...	OMIM:612474
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, 2-3 toe syndactyly, Pes planus, Recurrent patellar dislocation, 3-4 finger syndactyly	OMIM:615877
Thakker-Donnai Syndrome	Hydronephrosis, Intrauterine growth retardation, Cervical C2/C3 vertebral fusion	ORPHA:1780
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias	OMIM:620306
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus...	ORPHA:468631
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Ketonuria, Bilateral superior vena cava, Anteriorly placed anus, Hypertrophic cardio...	OMIM:220111
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C2/C3 vertebral fus...	OMIM:211380
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Cryptorchidism, Chordee, Urinary incontinence, Dysphagia, Hypospadi...	ORPHA:261552
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal metacarpal morphology, Absent ...	ORPHA:284160
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Micropenis, High palate,...	OMIM:603457
Apert Syndrome	Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the thumb	ORPHA:87
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Palmoplantar keratoderma, Finger syndactyly	ORPHA:1071
Mitochondrial Complex I Deficiency, Nuclear Type 1	Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, 3-hydroxydicarboxylic acidur...	OMIM:252010
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Macroglossia, Renal malrotation, Enla...	ORPHA:500095
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Cryptorchidism, Mitral valve prolapse, Abnormal intestine morphology, Hypospadia...	ORPHA:286
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Sandal gap, Hydronephrosis, Cutaneous syndactyly, Long fingers	OMIM:620330
3Mc Syndrome 2	Horseshoe kidney, Cryptorchidism, High palate, Hypospadias, Cleft palate	OMIM:265050
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Median cleft palate, Penile hypospadias, Left ventricular...	OMIM:242840
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Prominent interphalangeal joints, Short sternum, Adduc...	OMIM:618371
Ogden Syndrome	Narrow palate, Diarrhea, Vomiting, Decreased testicular size, Cryptorchidism, Global glomeruloscl...	OMIM:300855
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Anal atresia, Hypospadias, Ectopic anus, Cleft palate	ORPHA:85199
Mismatch Repair Cancer Syndrome 3	Neoplasm of the rectum, Colon cancer	OMIM:619097
6Q Terminal Deletion Syndrome	Hallux valgus, Clinodactyly, Prominent metopic ridge	ORPHA:75857
Chilton-Okur-Chung Neurodevelopmental Syndrome	Recurrent urinary tract infections, Ankyloglossia, Crossed fused renal ectopia, Oligohydramnios, ...	OMIM:619841
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Dilatation of the renal pelvis, Hyperechogenic kidneys, Knee dislocation, Medullary ...	OMIM:619534
Sotos Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Abnormality of the kidney, Hypos...	ORPHA:821
Dyskeratosis Congenita, X-Linked	Oral leukoplakia, Horseshoe kidney, Decreased testicular size, Cryptorchidism, Phimosis, Anal muc...	OMIM:305000
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli...	OMIM:619268
Waardenburg Syndrome, Type 1	Aplasia of the vagina	OMIM:193500
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
Branchiooculofacial Syndrome	Gastroesophageal reflux, Renal agenesis, Cryptorchidism, Renal cyst, Hypospadias, Malrotation of ...	OMIM:113620
Holoprosencephaly	Abnormality of the urinary system, Proteinuria, Hand polydactyly, Brachydactyly, Hypoplasia of penis	ORPHA:2162
Dubowitz Syndrome	Gastroesophageal reflux, Velopharyngeal insufficiency, Cryptorchidism, Submucous cleft hard palat...	OMIM:223370
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Hypospadias, Dilated cardiomyopathy, Gastroesophageal reflux, Aortic root aneurysm, ...	OMIM:607872
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Abnormal hand ...	ORPHA:464
Fanconi Anemia, Complementation Group E	Complete duplication of thumb phalanx, Absent thumb, Short thumb, Absent radius	OMIM:600901
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Short uvula, Bifid scrotum, Dilatation of the cerebral artery, Ankyloglossia...	OMIM:619475
Trichorhinophalangeal Syndrome, Type Ii	Vomiting, Gastroesophageal reflux, Bilateral cryptorchidism, Hydrometrocolpos, Chronic gastritis,...	OMIM:150230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Feeding difficulties in infancy, Renal cortical cysts, Vesicoureteral reflux	OMIM:618548
Acrofacial Dysostosis, Cincinnati Type	Pterygium, Intrauterine growth retardation, Femoral bowing, Acetabular dysplasia, Single transver...	OMIM:616462
Pallister-Killian Syndrome	Small scrotum, Anal stenosis, Bifid uvula, Anteriorly placed anus, Nasogastric tube feeding, Inte...	OMIM:601803
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney	OMIM:613001
Dyskeratosis Congenita	Oral leukoplakia, Abnormal morphology of female internal genitalia, Displacement of the urethral ...	ORPHA:1775
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short...	ORPHA:2908
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Aortic aneurysm, Spina bifida occul...	ORPHA:2990
Dpagt1-Cdg	Arachnodactyly, Camptodactyly, Clinodactyly	ORPHA:86309
Lynch Syndrome	Gastrointestinal hemorrhage, Cardiac diverticulum, Endometrial carcinoma, Intestinal polyposis, S...	ORPHA:144
Coffin-Lowry Syndrome	Narrow palate, High palate, Rectal prolapse, Uterine prolapse	OMIM:303600
Proteus Syndrome	Long penis, Enlarged polycystic ovaries, Renal cyst, Testicular neoplasm, Macroorchidism, Ovarian...	ORPHA:744
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Esophageal Atresia	Clinodactyly	ORPHA:1199
Monosomy 9P	Ureteropelvic junction obstruction, Cryptorchidism, Ambiguous genitalia, High palate, Hypospadias...	ORPHA:261112
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Short stature, Enuresis, Delayed puberty, Brachydactyly	ORPHA:293987
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Urachal cyst, Rectal abscess	OMIM:608203
Coffin-Siris Syndrome 12	Gastroesophageal reflux, Velopharyngeal insufficiency, Tetralogy of Fallot, Horseshoe kidney, Cry...	OMIM:619325
Viss Syndrome	Recurrent joint dislocation, Genu valgum, Contracture of the proximal interphalangeal joint of th...	OMIM:619472
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Ureterocele, Cryptorchidism, Hypospadias, Cleft palate	OMIM:616734
Microcephalic osteodysplastic primordial dwarfism, type III	High palate, Hypospadias, Bladder exstrophy	OMIM:210730
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Feeding difficulties	OMIM:617239
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Hip dysplasia, Short stature	ORPHA:438213
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Clinodactyly, Slender long bone, Short humerus, Talipes equinovarus, Long toe, ...	OMIM:264090
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency	OMIM:130050
Ring Chromosome 7 Syndrome	Bifid uvula, Hypogonadism, Situs inversus totalis, Median cleft palate, Hydrocele testis, Hypospa...	ORPHA:1449
Hardikar Syndrome	Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Renal...	OMIM:301068
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
Osteopetrosis With Renal Tubular Acidosis	Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal ...	ORPHA:2785
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Broad hallux, Clinodactyly, Single transverse palmar crease	OMIM:620186
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Hamartoma of tongue, Aplasia of the epiglottis, Ventricular septal defe...	ORPHA:434179
Visceral Myopathy 1	Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis	OMIM:155310
Congenital Fibrosis Of Extraocular Muscles	Finger aplasia	ORPHA:45358
Carney Complex	Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, Abnormal morphology of female i...	ORPHA:1359
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation...	OMIM:149730
Granulomatous Disease, Chronic, X-Linked	Ascites, Pleural effusion, Rectal abscess	OMIM:306400
Congenital Alveolar Capillary Dysplasia	Hydronephrosis	ORPHA:210122
Fontaine Progeroid Syndrome	Short distal phalanx of finger, Coronal craniosynostosis, Absent distal phalanges, Neonatal death...	OMIM:612289
Axenfeld-Rieger Syndrome, Type 1	Anal atresia, Hypospadias, Anal stenosis	OMIM:180500
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Cortical nephrocalcinosis, Abnormal hip joint morphology, Medullary nephrocalci...	ORPHA:51608
Loeys-Dietz Syndrome	Bifid uvula, High palate, Uterine rupture	ORPHA:60030
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication	OMIM:267750
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Pmm2-Cdg	Vomiting, Hyperplastic labia majora, Decreased testicular size, Aplasia of the ovary, Proteinuria...	ORPHA:79318
Digeorge Syndrome	Unilateral renal agenesis, Renal insufficiency, Intervertebral disk degeneration, Hydronephrosis,...	OMIM:188400
Leukocyte Adhesion Deficiency, Type I	Rectal abscess	OMIM:116920
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess	OMIM:601495
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649
Hennekam Syndrome	Finger syndactyly, Abnormal foot morphology, Camptodactyly of finger	ORPHA:2136
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Rectal abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Rectal abscess	OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Rectal abscess	OMIM:233690
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210

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 Hoxa13

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 Hoxa13.

No publications found that use IMPC mice or data for Hoxa13.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hoxa13^{tm430939(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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