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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 (2388 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 thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Hand-Foot-Genital Syndrome	Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,...	OMIM:140000
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	ORPHA:2438

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

Disease	Matching phenotypes	Source
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
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
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
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	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Hallux Varus-Preaxial Polysyndactyly Syndrome	Clinodactyly of the 5th finger, Sandal gap	ORPHA:2110
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Symphalangism, Proximal, 1B	Clinodactyly of the 5th finger, Short 2nd finger, Abnormal finger flexion crease, Proximal/middle...	OMIM:615298
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Brachydactyly, Type A1, D	Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t...	OMIM:616849
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Keratosis Palmaris Et Plantaris With Clinodactyly	Clinodactyly of the 5th finger	OMIM:148520
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Thumb Deformity	Aplasia/Hypoplasia of the thumb	OMIM:188100
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Short stature, Camptodactyly of finger, Renal agenesis, Broad thumb, Short ...	ORPHA:1471
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Adactylia, Unilateral	Short thumb, Adactyly	OMIM:102650
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Cleidorhizomelic Syndrome	Clinodactyly of the 5th finger, Rhizomelia, Short middle phalanx of the 5th finger	OMIM:119650
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/...	ORPHA:2632
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly, Micrognathia	OMIM:172880
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror...	ORPHA:2019
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:971
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split foot, Severe short stature, Split hand, Tapered finger	OMIM:220600
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1113
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ...	OMIM:236700
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Split-Hand And Split-Foot With Hypodontia	Split hand, Split foot	OMIM:183500
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Talonavicular Coalition	Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali...	OMIM:186750
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Bifid uterus, ...	OMIM:258040
Brachydactyly Type A4	Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte...	ORPHA:93394
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Split foot	OMIM:183700
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Abnormal...	DECIPHER:46
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Fatco Syndrome	Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen...	ORPHA:2492
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ...	OMIM:607078
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity	Split hand	OMIM:246555
Tetrasomy X	Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly	ORPHA:9
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis...	OMIM:185700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
2q37 monosomy	Brachydactyly	DECIPHER:44
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Short stature, Micromelia, Postaxial hand polydactyly, Split ...	ORPHA:2491
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Short distal phalanx of hallux, Partial duplication of the distal phalanx of the hallux, Short di...	OMIM:256200
Peripheral Dysostosis	Clinodactyly of the 5th finger, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han...	ORPHA:1795
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Ring Chromosome Y Syndrome	Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Increased laxity of ankles...	ORPHA:750
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo...	ORPHA:93351
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Bro...	OMIM:609052
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp...	ORPHA:3104
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly	OMIM:300577
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Brachydactyly	OMIM:615995
Eng-Strom Syndrome	Short stature, Camptodactyly of finger, Arthritis, Intrauterine growth retardation, Brachydactyly	ORPHA:1937
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Abnormal toe morphology, Abnormal carpal morpholo...	OMIM:216100
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Crisponi/Cold-Induced Sweating Syndrome 2	Cubitus valgus, Clinodactyly, Limited elbow extension, 2-3 toe syndactyly	OMIM:610313
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar...	ORPHA:93323
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab...	OMIM:617974
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Mesomelia	ORPHA:1277
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Lessel-Kubisch Syndrome	Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta...	ORPHA:1927
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Ring Chromosome 8 Syndrome	Deviation of finger, Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow	ORPHA:3268
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha...	OMIM:201170
Winchester Syndrome	Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis	OMIM:277950
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,...	OMIM:615993
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Image Syndrome	Metaphyseal dysplasia, Hypospadias, Micromelia, Cryptorchidism, Hypogonadism, Intrauterine growth...	ORPHA:85173
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Mmep Syndrome	Cryptorchidism, Split foot, Triphalangeal thumb	ORPHA:3434
Summitt Syndrome	Syndactyly, Craniosynostosis	OMIM:272350
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly	ORPHA:444051
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Autosomal Dominant Spastic Paraplegia Type 17	Hand muscle atrophy, Split hand, Hand muscle weakness	ORPHA:100998
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal...	OMIM:612961
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Alopecia-Intellectual Disability Syndrome	Short stature, Hypergonadotropic hypogonadism, Split hand, Growth delay, Brachydactyly	ORPHA:2850
Pseudoachondroplasia	Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fragmente...	OMIM:177170
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp...	OMIM:615542
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa...	ORPHA:85450
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic...	ORPHA:1240
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 3rd toe, Clinodactyly...	ORPHA:521308
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism, Polydactyly, Bra...	OMIM:615982
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Distal Symphalangism	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ...	ORPHA:3248
Feingold Syndrome 2	Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,...	OMIM:614326
Finnish Upper Limb-Onset Distal Myopathy	Joint contracture of the hand, Split hand, Weakness of the intrinsic hand muscles, Intrinsic hand...	ORPHA:399086
Myopathy, Distal, 3	Joint contracture of the hand, Split hand	OMIM:610099
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia, Cleft palate	OMIM:236110
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism	OMIM:617564
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal...	OMIM:124480
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Joint subl...	ORPHA:2619
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short stature, Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Abnormality of the upper urinary tract, Abnormality...	ORPHA:2145
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Short stature, Brachydactyly	OMIM:613382
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Aplasia/Hypoplasia of the phalanges of the hallux, Abnormality of th...	ORPHA:337
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly...	ORPHA:166024
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Split hand, Talipes equinovarus	OMIM:607831
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ...	OMIM:610797
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost...	OMIM:615314
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Idiopathic Isolated Micropenis	Ambiguous genitalia, Micropenis, Hypospadias	ORPHA:95707
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ...	ORPHA:753
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Seckel Syndrome 7	Severe short stature, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hip dys...	OMIM:614851
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip...	ORPHA:166016
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Dysmenorrhea, Hypergonadotropic hypogonadism, Decreased fe...	ORPHA:90796
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Eiken Syndrome	Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip...	ORPHA:79106
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Clinodactyly, 2-3 toe syndactyly	OMIM:619311
Charcot-Marie-Tooth Disease And Deafness	Thenar muscle weakness, Split hand, Hammertoe, Thenar muscle atrophy	OMIM:118300
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp...	ORPHA:873
Hypoglossia-Hypodactylia	Adactyly, Split hand, Micrognathia	OMIM:103300
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphol...	ORPHA:2370
Mental Retardation Syndrome, Mietens-Weber Type	Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, Absent proxi...	OMIM:249600
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Fanconi Anemia, Complementation Group O	Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia...	OMIM:613390
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Split-Hand/Foot Malformation 3	Split hand, Renal hypoplasia, Camptodactyly	OMIM:246560
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra...	OMIM:617405
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo...	OMIM:614078
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas...	ORPHA:1307
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Acces Syndrome	Hip dislocation, Horseshoe kidney, Hip dysplasia, Split foot, Ectrodactyly, Clinodactyly of the 5...	OMIM:619959
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ...	OMIM:171480
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra...	ORPHA:1278
Axin2-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Jeune Syndrome	Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Posta...	ORPHA:474
Isochromosomy Yp	Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size	ORPHA:98797
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly	OMIM:300928
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Primary amenorrhea, Micropenis, Ect...	OMIM:147950
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Clinodactyly	ORPHA:500166
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Clinodactyly of the 5th finger, Short thumb, Overlapping toe, Camptodactyly	OMIM:618453
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Urinary incont...	OMIM:617927
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Charcot-Marie-Tooth Disease, Type 4B2	Ulnar claw, Hammertoe, Split hand, Talipes equinovarus	OMIM:604563
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of...	OMIM:250460
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Split hand, Short stature, Premature ovarian insufficiency	OMIM:618124
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Hypochondroplasia	Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T...	OMIM:146000
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidism, Short 5th fi...	ORPHA:397590
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Ulnar claw, Hammertoe, Split hand	OMIM:118220
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Burkitt Lymphoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Spastic Paraplegia 17, Autosomal Dominant	Thenar muscle weakness, Split hand, Thenar muscle atrophy	OMIM:270685
Patent Ductus Arteriosus 2	Clinodactyly of the 5th finger	OMIM:617035
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Osteochondritis dissecan...	OMIM:165800
Macdermot-Winter Syndrome	Hydronephrosis, Intrauterine growth retardation, Camptodactyly of finger	OMIM:247990
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Bardet-Biedl Syndrome 19	Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis	OMIM:615996
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Bowing of the legs, Secondary amenorrhea, Lower limb undergrowth, Brachydactyly	OMIM:612847
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Micromelia, Ulnar deviat...	ORPHA:2928
Moebius Syndrome	Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Split hand, Micropenis, Abnormal pelvic...	OMIM:157900
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge...	ORPHA:989
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Brachydactyly, Short stature, Micromelia, Abnormality of the hand, Abnor...	ORPHA:2496
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Keipert Syndrome	Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac...	OMIM:301026
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
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
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Congenital Vertical Talus	Lower extremity joint dislocation, Rocker bottom foot, Equinus calcaneus	ORPHA:178382
Charcot-Marie-Tooth Disease Type 4D	Distal upper limb muscle weakness, Split hand, Hammertoe, Upper limb amyotrophy	ORPHA:99950
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Renal agenesis, Dysmenorrhea, Abnormal uterine...	ORPHA:3411
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome...	OMIM:609616
Lamb-Shaffer Syndrome	Long fingers, Clinodactyly, Overlapping toe, Long hallux	OMIM:616803
Microcephaly-Albinism-Digital Anomalies Syndrome	Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes	ORPHA:2513
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Split hand, Short stature, Foot polydactyly	ORPHA:3004
Chromosome 15Q26-Qter Deletion Syndrome	Short stature, Hypospadias, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, ...	OMIM:612626
Isochromosomy Yq	Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Ulnar claw, Hammertoe, Split hand	OMIM:118200
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal...	ORPHA:2900
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
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela...	OMIM:132400
Aurocephalosyndactyly	4-5 toe syndactyly, Craniosynostosis	OMIM:109050
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Clinodactyly, Short palm	ORPHA:73273
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Acromicric Dysplasia	Short metacarpal, Severe short stature, Small hand, Abnormal femur morphology, Abnormal epiphysis...	ORPHA:969
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria, Abdominal pain	OMIM:600989
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Short stature, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, ...	OMIM:608154
Interstitial Cystitis	Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur...	ORPHA:37202
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Intellectual Developmental Disorder, Autosomal Recessive 79	Pes planus, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender finger	OMIM:620393
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Hartsfield Syndrome	Intrauterine growth retardation, Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis	ORPHA:2117
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Multiple Synostoses Syndrome 4	Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum	ORPHA:2256
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Acrodysplasia Scoliosis	Brachydactyly	ORPHA:2956
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly	ORPHA:221054
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, 2-3 finger syndactyly, Clubbing of toes, Urete...	ORPHA:2437
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Paternal Uniparental Disomy Of Chromosome X	Short metacarpal, Short stature, Infertility, Cubitus valgus, Micropenis, Decreased testicular size	ORPHA:261524
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Brachydactyly, Type E1	Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Type E brachydacty...	OMIM:113300
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Disproportionate...	ORPHA:1856
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech...	OMIM:617914
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Hypergonadotropic hypogonadism, Short stature, Hypogonadotropic hypogonadism, Genu recurvatum, Sp...	OMIM:604168
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad...	ORPHA:2662
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, ...	OMIM:201750
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Bardet-Biedl Syndrome 6	Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst	OMIM:605231
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Coxa vara, Tibi...	OMIM:608940
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvula, Bilateral renal age...	OMIM:616258
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali...	ORPHA:83468
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Short stature, Broad femoral neck, Broad metat...	OMIM:615222
Genitopalatocardiac Syndrome	Gonadal dysgenesis, male, Hypospadias, Cleft palate, Renal cyst	OMIM:231060
Bardet-Biedl Syndrome 3	Renal hypoplasia, External genital hypoplasia	OMIM:600151
Pseudopseudohypoparathyroidism	Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short ...	ORPHA:79445
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Absent distal...	OMIM:618658
Charcot-Marie-Tooth Disease, Dominant Intermediate G	Split hand	OMIM:617882
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Short stature, Genu recurvatum, Micromelia, Metaphyseal widening...	OMIM:184260
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Craniosynostosis, Humeroradial synostosis, Forearm under...	OMIM:251230
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu...	ORPHA:65759
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc...	OMIM:156530
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing	ORPHA:1858
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Short stature, Abnormal metatarsal morphology, Hip subluxation, Flat capita...	ORPHA:93360
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Vesicoureteral reflux...	OMIM:244600
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Spermatogenic Failure, X-Linked, 6	Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Severe postnat...	ORPHA:319675
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ...	ORPHA:2973
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra...	OMIM:194350
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger	OMIM:165660
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal...	OMIM:602849
Hypomelia With Mullerian Duct Anomalies	Postaxial hand polydactyly, Split hand	OMIM:146160
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly	ORPHA:1436
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Hand-Foot-Genital Syndrome	Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,...	OMIM:140000
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi...	ORPHA:752
Brown-Vialetto-Van Laere Syndrome 2	Split hand, Organic aciduria	OMIM:614707
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes	OMIM:277740
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ...	OMIM:602418
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum...	OMIM:227270
Cleft Palate, Deafness, And Oligodontia	Sandal gap, Short hallux	OMIM:216300
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Hypospadias 3, Autosomal	Hypospadias	OMIM:146450
Hypospadias 2, X-Linked	Penoscrotal hypospadias	OMIM:300758
Hypospadias 1, X-Linked	Perineal hypospadias	OMIM:300633
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Arthrogryposis, Distal, Type 1A	Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro...	OMIM:108120
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal...	OMIM:252600
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Orofaciodigital Syndrome Xv	Postaxial hand polydactyly, Broad hallux, Hydronephrosis, Duplication of phalanx of hallux	OMIM:617127
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A...	ORPHA:1860
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Split hand	OMIM:610127
Meckel Syndrome, Type 9	Ambiguous genitalia, Multicystic kidney dysplasia	OMIM:614209
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Anus, Imperforate	Ectopic anus, Hypospadias, Anal atresia	OMIM:301800
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu...	ORPHA:1972
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dysplasia, Anal...	OMIM:601389
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Cach Syndrome	Premature ovarian insufficiency, Renal hypoplasia, Primary amenorrhea, Secondary amenorrhea, Feed...	ORPHA:135
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis	ORPHA:171839
Multicentric Osteolysis, Nodulosis, And Arthropathy	Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro...	OMIM:259600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal...	OMIM:271650
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Abruzzo-Erickson Syndrome	Toe syndactyly, Short stature, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Abnor...	ORPHA:921
Cat-Eye Syndrome	Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Intraute...	ORPHA:195
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spina Bifida-Hypospadias Syndrome	Hypospadias, Spina bifida, Spinal dysraphism	ORPHA:3176
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Split hand, Urinary incontinence, Intrinsic hand muscle atrophy	OMIM:616688
Zaki Syndrome	Toe syndactyly, Short stature, Renal agenesis, Long fingers, Ectrodactyly, Broad distal phalanx o...	OMIM:619648
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Abnormality of the uterus,...	ORPHA:2470
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double-layered patel...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Prieto Syndrome	Coxa valga, Patellar subluxation, Talipes equinovarus, Radial deviation of finger, Patellar dislo...	OMIM:309610
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Short stature, Bilateral single tran...	ORPHA:2377
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Trichothiodystrophy 9, Nonphotosensitive	Brachydactyly	OMIM:619692
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Rena...	ORPHA:85284
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia...	ORPHA:363417
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Coxa valga, Coxa vara, Shor...	OMIM:617396
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Clinodactyly, Hypoplastic pubic bone, Coxa vara, Genu ...	OMIM:184250
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Gastroesophageal reflux, Vesicovaginal fistula, High palate	OMIM:300896
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Boudin-Mortier Syndrome	Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ...	OMIM:619543
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Abno...	ORPHA:3409
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Flared metaphysis, Elbow flexion contractur...	OMIM:184252
Orofaciodigital Syndrome Xvii	High, narrow palate, Micropenis, Renal hypoplasia	OMIM:617926
Odontotrichoungual-Digital-Palmar Syndrome	Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo...	OMIM:601957
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Adams-Oliver Syndrome 4	Aplasia of the middle phalanx of the 4th toe, Short toe, Absent middle phalanx of the 3rd toe, Ap...	OMIM:615297
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly	OMIM:614684
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossification of carpal ...	OMIM:614613
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox...	OMIM:146255
Progressive Osseous Heteroplasia	Osteoarthritis, Brachydactyly	ORPHA:2762
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple...	ORPHA:251992
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand pol...	ORPHA:3098
Keratosis Palmaris Et Plantaris-Clinodactyly Syndrome	Clinodactyly of the 5th finger, Diffuse palmoplantar hyperkeratosis	ORPHA:86919
Potocki-Shaffer Syndrome	Wormian bones, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly	OMIM:601224
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Vaginal fistula	ORPHA:2597
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln...	ORPHA:2741
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact...	ORPHA:380
Premature Ovarian Failure 13	Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Satoyoshi Syndrome	Short metacarpal, Short stature, Short metatarsal, Amenorrhea, Osteolytic defects of the phalange...	OMIM:600705
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydronephrosis	ORPHA:251046
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol...	ORPHA:2511
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in upper limbs, Hand muscle weakness, Split hand, Intrinsic hand muscle ...	ORPHA:101097
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly	OMIM:615633
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Urina...	ORPHA:2795
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina...	OMIM:158330
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
46,Xy Sex Reversal 11	Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal...	OMIM:273250
Trisomy 13	Displacement of the urethral meatus, Cryptorchidism, Postaxial hand polydactyly, Abnormality of t...	ORPHA:3378
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Hypoperistalsis,...	OMIM:611376
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ...	OMIM:618569
Microcephaly, Short Stature, And Limb Abnormalities	Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,...	OMIM:617604
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Large carpal bones, Abnormality of the testis size, Fi...	ORPHA:99330
Thrombocytopenia, Paris-Trousseau Type	Clinodactyly, Radial deviation of finger	OMIM:188025
8P23.1 Duplication Syndrome	Toe syndactyly, Hydronephrosis	ORPHA:251076
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis, Short metat...	OMIM:190351
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma...	ORPHA:3121
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Wrist swelling, St...	OMIM:166300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Anteriorly placed anus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ...	ORPHA:2251
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Mesomelia, Short ti...	OMIM:605274
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
15q24 recurrent microdeletion syndrome	Hypospadias	DECIPHER:66
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C...	OMIM:601680
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Cr...	ORPHA:2879
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Microphthalmia, Syndromic 8	Cryptorchidism, Split foot	OMIM:601349
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Camptodactyly Syndrome, Guadalajara Type 2	Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Tali...	ORPHA:1326
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora...	OMIM:249700
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Hypertrophic Neuropathy Of Dejerine-Sottas	Ulnar claw, Hammertoe, Split hand	OMIM:145900
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular se...	ORPHA:139466
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal diaphysis morphology, Cl...	ORPHA:1515
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Short stature, Single transverse palmar crease, Adducted thumb, Hydrocele testis, Brachydactyly	OMIM:620062
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ...	OMIM:119500
Cornelia De Lange Syndrome 2	Short stature, Proximal placement of thumb, Limited elbow movement, Postnatal growth retardation,...	OMIM:300590
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Osteoarthritis, Abnormal diaphysis morphology, Abnorm...	ORPHA:1657
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc...	OMIM:236730
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Temtamy Syndrome	Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum	ORPHA:1777
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta...	OMIM:206920
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Short foot, Acromicria, Small hand, Clinodactyly	ORPHA:254525
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachy...	OMIM:618265
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis	OMIM:615989
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca...	OMIM:618395
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly...	OMIM:600325
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Small hand, Short foot, Clinodactyly of the 5th finge...	ORPHA:444002
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Oculogastrointestinal Neurodevelopmental Syndrome	Anal atresia, Vaginal fistula, Horseshoe kidney	OMIM:619318
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod...	OMIM:148820
Intellectual Developmental Disorder, Autosomal Dominant 59	Short stature, Short foot, Short palm, Mild short stature, Brachydactyly	OMIM:618522
N Syndrome	Cryptorchidism, Hypospadias	ORPHA:2608
1Q21.1 Microduplication Syndrome	Cryptorchidism, Tetralogy of Fallot, Hypospadias, Gastroesophageal reflux	ORPHA:250994
Hirschsprung Disease	Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Abdomin...	ORPHA:388
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the...	OMIM:609638
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Multipl...	OMIM:226960
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Polyhydramnios, Esophageal atresia, Tracheoesophageal fis...	ORPHA:1923
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Short stature, Ankle flexion contracture, Elbow flexion contracture, Knee flexio...	ORPHA:85285
Steel Syndrome	Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte...	OMIM:615155
16P11.2P12.2 Microduplication Syndrome	Hypospadias, Cleft palate	ORPHA:261204
Short Stature, Dauber-Argente Type	Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth retardation...	OMIM:619489
Chondrodysplasia, Blomstrand Type	Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc...	OMIM:215045
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
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon...	OMIM:620269
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus...	ORPHA:1756
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Thomas Syndrome	Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3316
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Tetralogy of Fallot, Anal atresia	ORPHA:1381
Hypomelanosis Of Ito	Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger	OMIM:300337
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Partial Androgen Insensitivity Syndrome	Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral...	ORPHA:90797
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Congenital Neuronal Ceroid Lipofuscinosis	Split hand	ORPHA:168486
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	ORPHA:2438
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Short stature, Hypogonadotropic hypogonadis...	ORPHA:353298
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Renal ...	ORPHA:85321
Neuropathy, Congenital, With Arthrogryposis Multiplex	Calcaneovalgus deformity	OMIM:162370
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Cryptorchidism, High, narrow palate, Renal hypoplasia, Cleft palate, A...	OMIM:618494
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ...	ORPHA:1788
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short stature, Proteinuria, Short iliac bones, Glomerulonephritis, Metaphyseal wideni...	OMIM:614376
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Short third metatarsal, Camptodactyly of finger, Split hand, Weakness of lon...	ORPHA:324442
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Postnatal growth retardation, Nephrolithiasis, Vesicoureteral reflux...	OMIM:617219
Pseudopseudohypoparathyroidism	Short metacarpal, Short metatarsal, Short stature, Brachydactyly	OMIM:612463
Desmoid Disease, Hereditary	Colorectal polyposis, Colon cancer, Desmoid tumors	OMIM:135290
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Brachydactyly	OMIM:610498
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Short Stature-Wormian Bones-Dextrocardia Syndrome	Short stature, Camptodactyly of finger, Renal hypoplasia/aplasia, Cryptorchidism, Midshaft hyposp...	ORPHA:2863
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Larsen Syndrome	Finger syndactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bones, Abnormal e...	ORPHA:503
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ...	ORPHA:1581
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Clinodactyly of the 5th finger, Short foot, Oligodactyly	OMIM:619758
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly	ORPHA:1114
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Clinodactyly	OMIM:300934
Ruvalcaba Syndrome	Short metacarpal, Short stature, Micromelia, Cryptorchidism, Limited elbow extension, Short metat...	OMIM:180870
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus...	OMIM:601076
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Aplasia/Hypoplasia of t...	ORPHA:1225
Microcephalic Primordial Dwarfism, Toriello Type	Intrauterine growth retardation, Severe short stature, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Microduplication Xp11.22P11.23 Syndrome	Pes planus, Toe syndactyly, Pes cavus	ORPHA:217377
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Anorectal anomaly, Abnormality of the ureter, Tracheoesophageal fistula...	ORPHA:1834
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Craniosynostosis, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of th...	OMIM:619451
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti...	OMIM:258860
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Osteoarthritis, Abnormal femur morphology, G...	ORPHA:1822
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia...	ORPHA:2473
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo...	OMIM:236500
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Lowry-Wood Syndrome	Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnormal epiphysis morph...	ORPHA:1824
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Limb undergrowth, Coar...	OMIM:618961
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral...	ORPHA:49
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Polyhydramnios, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, ...	ORPHA:456328
Roifman Syndrome	Hip contracture, Short metacarpal, Short stature, Single transverse palmar crease, Postnatal grow...	OMIM:616651
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Endove Syndrome, Limb-Brain Type	Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger...	OMIM:619218
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal...	ORPHA:2842
Currarino Syndrome	Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m...	ORPHA:1552
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Bilateral single transverse palmar creases, Camptodactyly of finger, Cryptor...	ORPHA:2083
Peroxisome Biogenesis Disorder 6A (Zellweger)	Feeding difficulties in infancy, Decreased liver function, Renal cyst	OMIM:614870
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Even-Plus Syndrome	Recurrent urinary tract infections, Renal hypoplasia, High palate, Vesicoureteral reflux, Anal at...	OMIM:616854
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo...	ORPHA:3440
Hadziselimovic Syndrome	High palate, Renal hypoplasia, Anal atresia	OMIM:612946
Ulnar-Mammary Syndrome	Hypoplasia of penis, Cryptorchidism, Pyloric stenosis, Decreased fertility, Renal hypoplasia, Ect...	ORPHA:3138
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Short palm	ORPHA:3238
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Hip dysplasia, Polydactyly, Hydro...	ORPHA:531151
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calcaneus...	ORPHA:163966
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Feeding difficulties	ORPHA:464288
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Sanjad-Sakati Syndrome	Cryptorchidism, Hypoplasia of penis, Intestinal obstruction	ORPHA:2323
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men...	OMIM:615986
Greenberg Dysplasia	Abnormal pelvis bone ossification, Rhizomelia, Micromelia, Brachydactyly	ORPHA:1426
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Complete duplication of thumb phalanx, Shortening of all distal phalanges of the toes, Short 5th ...	OMIM:106995
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl...	ORPHA:2538
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Talipes equinovarus, Short palm, Clinodactyly	ORPHA:85279
Chst3-Related Skeletal Dysplasia	Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbow, Genu valgum, Irregular e...	ORPHA:263463
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Ventral shortening of foreskin, Cryptorchidism, Esophageal atresia, Cleft palate, ...	ORPHA:95706
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Renal hypoplasia/aplasia, Split ...	ORPHA:958
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Auriculoosteodysplasia	Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog...	ORPHA:114
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis	ORPHA:2010
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly	ORPHA:1390
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter...	OMIM:619797
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h...	OMIM:615994
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ...	OMIM:147891
Hypotrichosis-Intellectual Disability, Lopes Type	1-5 finger complete cutaneous syndactyly	ORPHA:2266
Igg4-Related Aortitis	Intestinal obstruction, Hydronephrosis, Abdominal pain	ORPHA:449400
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Abdominal pain, ...	ORPHA:342
Anauxetic Dysplasia 1	Hip contracture, Severe short stature, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis...	OMIM:607095
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Short hallux, Metaphyseal widening, Abnormality o...	OMIM:135100
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Nicolaides-Baraitser Syndrome	Short palm, Joint dislocation, Severe short stature, Sandal gap, Cryptorchidism, Abnormal finger ...	ORPHA:3051
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Abnormality of the ur...	ORPHA:1046
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal a...	OMIM:617666
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn...	OMIM:617641
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Sh...	OMIM:201000
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor...	ORPHA:950
Trisomy X	Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia	ORPHA:3375
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma	OMIM:613576
Emanuel Syndrome	Recurrent urinary tract infections, Intestinal malrotation, Unilateral renal agenesis, Cryptorchi...	OMIM:609029
Marden-Walker Syndrome	Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palat...	OMIM:248700
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Hypertrophic cardiomyopathy...	OMIM:618815
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Imagawa-Matsumoto Syndrome	Clinodactyly, Large hands, Camptodactyly	OMIM:618786
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention, Renal cyst	OMIM:174050
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple renal cysts, Vesicoureteral reflux	ORPHA:1166
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Renal Hypodysplasia/Aplasia 1	Proteinuria, Primary amenorrhea, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Re...	OMIM:191830
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Postnata...	OMIM:611717
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Secondary amenorrhea, D...	ORPHA:3085
Emanuel Syndrome	Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Cleft palate, Dysphagia, Feeding dif...	ORPHA:96170
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Limited knee extension, W...	ORPHA:239
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Joubert Syndrome 33	Syndactyly	OMIM:617767
Laron Syndrome	Hypoplasia of penis, Severe short stature, Short toe, Abnormality of the elbow, Osteoarthritis, D...	ORPHA:633
Melnick-Needles Syndrome	Bowing of the long bones, Short stature, Coxa valga, Hip dislocation, Cone-shaped epiphyses of th...	ORPHA:2484
Rudiger Syndrome	Ureterovesical stenosis, Single transverse palmar crease, Micropenis, High axial triradius, Short...	OMIM:268650
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Thumb Agenesis, Short Stature, And Immunodeficiency	Absent thumb	OMIM:274190
Tarsal-Carpal Coalition Syndrome	Abnormality of the ankle, Tarsal synostosis	ORPHA:1412
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Hypogonadism, Renal hypoplasia	ORPHA:254913
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Brachyolmia Type 3	Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ...	OMIM:113500
Monosomy 5P	Finger syndactyly, Small hand	ORPHA:281
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec...	ORPHA:887
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Enlarged joints, Tapered finger, Flattened epiphysis, Genu valgum, Polydact...	OMIM:607131
Meckel Syndrome, Type 8	Abdominal distention, Cleft palate, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechoge...	OMIM:613885
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Split hand, Hypopla...	OMIM:200980
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Growth delay, Hip dysplasia, ...	OMIM:619762
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Polycystic kid...	OMIM:614091
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm	ORPHA:145
Erythrokeratodermia Variabilis	Short stature, Tapered finger, Patchy palmoplantar hyperkeratosis, Abnormal testis morphology, Br...	ORPHA:317
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly,...	OMIM:613091
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Wrist swelling, Slender long bone, Metacarpal osteolysis, A...	ORPHA:2774
Tetraploidy	Radial club hand, Renal hypoplasia/aplasia, Hydronephrosis, Intrauterine growth retardation	ORPHA:3305
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Pectoral muscle hypoplasia/aplasia, Radial deviation of finger, Campt...	OMIM:136760
Toluene Embryopathy	Short stature, Tapered finger, Cryptorchidism, Abnormal localization of kidney, Hydronephrosis	ORPHA:1920
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Cat Eye Syndrome	Atrial septal defect, Vesicoureteral reflux, Patent ductus arteriosus, Total anomalous pulmonary ...	OMIM:115470
Spinocerebellar Ataxia 47	Clinodactyly, Small hand, Tapered finger	OMIM:617931
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Juberg-Hayward Syndrome	Toe syndactyly, Severe short stature, Hypospadias, Short thumb, Hypoplasia of the radius, Abnorma...	ORPHA:2319
Mulchandani-Bhoj-Conlin Syndrome	Clinodactyly, 2-3 toe syndactyly	OMIM:617352
Marinesco-Sjögren Syndrome	Short palm, Severe short stature, Coxa valga, Avascular necrosis of the capital femoral epiphysis...	ORPHA:559
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis	OMIM:264600
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Broad thumb, Brac...	OMIM:612813
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Anauxetic Dysplasia 3	Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Short middle...	OMIM:618853
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm...	ORPHA:15
Ectodermal Dysplasia With Mental Retardation And Syndactyly	3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short phalanx of finger,...	OMIM:615777
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Cone-shaped epiphysis, Palmoplantar keratoderma, Arachnodactyly, Brachydactyly	ORPHA:2824
Burn-Mckeown Syndrome	Unilateral renal agenesis, Feeding difficulties in infancy, Renal hypoplasia, Cleft palate, Bifid...	OMIM:608572
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ...	ORPHA:3201
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Cryptorchidism, Growth delay, Camptodactyly, Clinodactyly of the 5t...	OMIM:179613
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Ab...	ORPHA:183
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin...	ORPHA:424019
Infantile Myofibromatosis	Intestinal obstruction, Tracheoesophageal fistula, Abnormality of the kidney, Abnormal intestine ...	ORPHA:2591
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology,...	ORPHA:85438
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Cleft palate, Renal cyst, Feeding difficulties	OMIM:615583
Pseudotrisomy 13 Syndrome	Renal agenesis, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis, Anal atresia, Me...	OMIM:264480
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Abnormal gastrointestinal v...	ORPHA:70475
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Intellectual Developmental Disorder, X-Linked 106	Clinodactyly of the 5th finger, Clinodactyly	OMIM:300997
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Ectopic kidney, Cryptorchidism, Short thumb, Dislocated r...	ORPHA:401935
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Cryptorchidism, Renal hypoplasia	OMIM:616817
Axial Spondylometaphyseal Dysplasia	Iliac crest serration, Mild postnatal growth retardation, Short stature, Proximal femoral metaphy...	ORPHA:168549
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Woolly Hair Nevus	Brachydactyly	ORPHA:79414
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t...	OMIM:601356
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Renal insufficiency, Dysuria, Anorexia, Abdominal pain, Varicocele, Renovasc...	ORPHA:49041
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Al-Raqad Syndrome	Sandal gap, Brachydactyly	OMIM:616459
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth	OMIM:263630
Schaaf-Yang Syndrome	Short stature, Rocker bottom foot, Tapered finger, Cryptorchidism, Small hand, Narrow palm, Micro...	OMIM:615547
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Poor suck	OMIM:604273
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Short stature, Coxa valga, Disproportionate short stature, Advanced ossification...	OMIM:618363
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hyd...	ORPHA:2241
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Postnatal growth retardation, Severe intrauterine growth retardation, Clinodactyly...	ORPHA:231144
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Short foot, Ankle clonus, Hammertoe, Camptodactyly, Clinodactyly, Br...	OMIM:275900
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Pes cavus	ORPHA:3224
Hall-Riggs Syndrome	Metaphyseal dysplasia, Brachydactyly	OMIM:234250
Joubert Syndrome 37	Prominent metopic ridge, Short stature, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, Mi...	OMIM:619185
Spermatogenic Failure 17	Male infertility	OMIM:617214
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo...	OMIM:614841
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia, Renal hypoplasia/aplasia	OMIM:267400
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi...	ORPHA:1112
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Hypoplasia of penis, Hypogonadotropic hypogonadism, Genu valgum, Abnormal metacarp...	ORPHA:1295
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi...	ORPHA:1427
Pelvis-Shoulder Dysplasia	Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mes...	ORPHA:2839
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Anal stenosis, Urinary incontinence, Sept...	OMIM:176450
Waardenburg-Shah Syndrome	Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Constipation, Abnormal intestine m...	ORPHA:897
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Cleft palate, H...	ORPHA:2237
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Abnormality of the wrist, ...	ORPHA:3265
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Renal hypoplasia, Tracheoesophageal fistula, Cleft...	OMIM:614083
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Abdominal pain, Diarrhea, Paralytic ileus, Urinary retention, Vomi...	OMIM:176000
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Ectopic kidney, Rectal prolapse, Protein-losing enteropathy, Atria...	OMIM:235510
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Long fingers, Short toe, Cryptorchidism...	OMIM:618659
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
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete...	ORPHA:2911
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
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad hallux, Hypospadias, Postnatal growth retardation, Cryptorchidism, Short ...	ORPHA:439822
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Craniosynostosis, Postnatal growth reta...	OMIM:614732
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Cryptorchidism, 2-3 toe syndactyly, Growth delay, Hypogonadism, Talipe...	ORPHA:3306
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Short foot, Clinodactyly, Small hand	ORPHA:254531
Lymphedema-Hypoparathyroidism Syndrome	Renal insufficiency, Short stature, Increased carrying angle, Nephropathy, Brachydactyly	OMIM:247410
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Postaxial hand polydactyly, Chronic kidney disease, Cone-shaped epiphyses of the p...	OMIM:615630
Larsen-Like Syndrome	Joint dislocation, Talipes equinovarus, Radial deviation of the 4th finger, Clinodactyly of the 5...	OMIM:608545
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Hepatocellular carcinoma, Re...	OMIM:619902
Shox-Related Short Stature	Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb under...	ORPHA:314795
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele...	OMIM:612964
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l...	ORPHA:974
Tetrasomy 15Q26	Arachnodactyly, Horseshoe kidney, Camptodactyly, Intrauterine growth retardation, Hydronephrosis	OMIM:614846
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Sandal gap, Short stature, Hypospadias, Cryptorchidism, Small hand, Short foot, Hypogonadism, Del...	OMIM:300354
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Hallux valgus, Swan neck-like deformities of the fingers, Metopic synostosis, Ulnar deviated club...	OMIM:619880
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty...	OMIM:175700
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Clinodactyly	ORPHA:1445
Rhyns Syndrome	Renal insufficiency, Radial bowing, Short stature, Chronic kidney disease, Short long bone, Short...	OMIM:602152
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Braddock-Carey Syndrome 2	Clinodactyly	OMIM:619981
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Arachnodactyly	OMIM:619092
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubular acidosis, ...	OMIM:614922
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93259
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short stature, Short toe, Short metatarsal, Hypogonadism, Short finger, Low uri...	OMIM:103580
Lambert Syndrome	Ventricular septal defect, Branchial anomaly, Hypospadias	ORPHA:1296
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati...	OMIM:250220
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Hypospadias, P...	ORPHA:1896
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky...	OMIM:276820
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Scapular winging, Single transverse palmar crease, Micromelia, Monkey wrench f...	OMIM:618870
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Oculomaxillofacial Dysostosis	Abnormality of the humerus, Adducted thumb, Camptodactyly of finger, Brachydactyly	ORPHA:1794
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Abnormality of the lower urinary tract, Hiatus hernia	ORPHA:101009
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Delayed closure of the anterior fontanelle, Postnatal growth retardation, Upper li...	ORPHA:231140
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer	OMIM:135150
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Short thumb, Intrauterine growth retardation	OMIM:609054
Fanconi Anemia, Complementation Group F	Cryptorchidism, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney, Duodenal at...	OMIM:603467
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryptorchidism, ...	OMIM:300219
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly	ORPHA:357175
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Abruzzo-Erickson Syndrome	Hypospadias, Cleft palate	OMIM:302905
Meckel Syndrome, Type 10	Hypospadias, Cleft palate, Renal cyst, Micropenis, Bifid uvula	OMIM:614175
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Clinodactyly, Single transverse palmar crease	ORPHA:178148
Satoyoshi Syndrome	Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormal join...	ORPHA:3130
Atelosteogenesis, Type I	Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Short metacarpal, Radial bowin...	OMIM:108720
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Testicular neoplasm, Abdominal pain, Abdominal distention, Ileus, Ovarian ne...	ORPHA:83469
Thanatophoric Dysplasia	Abnormality of the kidney, Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Dispr...	ORPHA:2655
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Castleman Disease	Nausea and vomiting, Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal o...	ORPHA:160
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Ne...	OMIM:314390
Focal Dermal Hypoplasia	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormal palmar dermatoglyphics,...	ORPHA:2092
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly	OMIM:614838
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Short stature, Abnormal metatarsal morphology, Cryptorchidism, R...	ORPHA:163654
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar muscle atrophy, Flat capital fe...	OMIM:612350
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Metaphyseal widenin...	OMIM:224400
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim...	OMIM:607323
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypospadias	ORPHA:1355
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E...	OMIM:243150
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Renal dysplasia, Situs inversus totalis	OMIM:615985
Congenital Short Bowel Syndrome	Intestinal hypoplasia, Displacement of the urethral meatus, Intestinal malrotation	ORPHA:2301
Vaginal Atresia	Cervicitis, Vaginal hematocele, Abdominal pain, Transverse vaginal septum, Uterus didelphys, Prim...	ORPHA:65681
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short stature, Single transverse palmar crease, Growth delay, Camptodactyly, Intrauterine growth ...	OMIM:613604
Opsismodysplasia	Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Abnormal epiphysis morphology, Abnor...	ORPHA:2746
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Short to...	ORPHA:1327
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction, Clitoral hypertrophy	OMIM:150700
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
Three M Syndrome 3	Short stature, Growth delay, Slender long bone, Hip dysplasia, Clinodactyly of the 5th finger, Pr...	OMIM:614205
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Microphthalmia, Syndromic 9	Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ...	OMIM:601186
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Brachydactyly, Rhizomelia, Broad thumb, Mesomelia	ORPHA:171866
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar...	OMIM:617247
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, High palate, Renal hypoplasia	OMIM:619053
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa...	OMIM:620099
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Short distal phalanx of the 5th finger, Cl...	OMIM:620073
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypospadias	OMIM:618330
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Ectopic anus, High palate	ORPHA:1703
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp...	ORPHA:3429
Mohr Syndrome	Syndactyly, Wormian bones, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphys...	OMIM:252100
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Duodenal atresia	OMIM:617784
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th...	ORPHA:137834
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas...	ORPHA:1507
Vacterl Association With Hydrocephalus	Renal hypoplasia, Anal atresia	OMIM:276950
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Recurrent urinary tract infections, Bilateral single transverse palmar creases...	ORPHA:502
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Short stature, Metatarsus adductus, Postnatal growth retardation, Cryptorchidism,...	OMIM:612513
Intellectual Disability, Wolff Type	Cryptorchidism, Hypospadias, Abnormal intestine morphology	ORPHA:3080
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Cryptorchidism, Congenital posterior urethral valve, Tal...	OMIM:100100
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:617466
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta...	OMIM:300863
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Clinodactyly, Ulnar deviation of the wrist, Unilambdoid synostosis	OMIM:618577
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome	Hypospadias	ORPHA:2261
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Ventricular septal defect, Polyhydramnios, Cryptorchid...	OMIM:301056
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Abnorma...	ORPHA:3447
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Severe short stature, Abnormality of the elbow, Hip dislocation, Moderate post...	ORPHA:1005
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger	ORPHA:1914
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly	OMIM:615162
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cryptorchidism, Split hand, Clubbing, Growth delay, Micropenis	OMIM:600460
15Q24 Microdeletion Syndrome	Short stature, Hypospadias, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe ...	ORPHA:94065
Acrofrontofacionasal Dysostosis	Short stature, Camptodactyly of finger, Micromelia, Hypospadias, Abnormal epiphysis morphology, S...	ORPHA:1784
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Pentalogy Of Cantrell	Hypospadias, Renal agenesis, Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the rad...	ORPHA:1335
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delayed ossification...	ORPHA:93346
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Short distal pha...	ORPHA:2994
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent phalangeal crease, Bila...	OMIM:108145
Cardiocranial Syndrome, Pfeiffer Type	Hypospadias, Cryptorchidism, High, narrow palate, Abnormal heart morphology, Umbilical hernia, Mi...	ORPHA:2872
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Feed...	ORPHA:261265
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Calcaneovalgus deformity, Genu recurvatum	OMIM:225320
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Short stature, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Abnormality ...	ORPHA:1770
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Diphallia	Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Abnor...	ORPHA:227
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Clinodactyly of the 5th finger, Short distal phalanx of finger, Bra...	ORPHA:2163
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Mild postnatal growth retardation, Short stature, Unilateral ren...	OMIM:101800
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Toe syndactyly, Short stature, Abnormality of the kidney, S...	ORPHA:391641
Feingold Syndrome	Hallux valgus, Toe syndactyly, Deviation of the 2nd finger, Clinodactyly of the 5th finger, Brach...	ORPHA:1305
Blepharocheilodontic Syndrome 1	Clinodactyly, Cutaneous syndactyly	OMIM:119580
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Hypospadias, Wormian bones, Decreased fibular diameter, Flared met...	OMIM:616897
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ...	ORPHA:1553
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact...	ORPHA:3103
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala...	OMIM:609465
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Hydronephrosis, Brach...	OMIM:618950
Waardenburg Syndrome Type 3	Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ...	ORPHA:896
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Rhizomelia, Single transverse palmar crease, Short stature, Hypospadias, Pos...	OMIM:611209
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Short stature, Hydroureter, Abnormal pelvic girdle ...	ORPHA:1458
Qazi-Markouizos Syndrome	Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Grant Syndrome	Wormian bones, Down-sloping shoulders, Tibial bowing	OMIM:138930
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla...	OMIM:600057
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Limited mobility of proximal interphalangeal joint, Growth delay...	OMIM:222300
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Cle...	OMIM:244200
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
10Q22.3Q23.3 Microduplication Syndrome	Ambiguous genitalia, Tetralogy of Fallot, Hypospadias	ORPHA:276422
W Syndrome	Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub...	ORPHA:2804
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea...	ORPHA:168563
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Cleft pala...	ORPHA:1988
Craniosynostosis 2	Bicoronal synostosis, Craniosynostosis, Metopic synostosis, Triphalangeal thumb, Wormian bones, U...	OMIM:604757
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno...	ORPHA:93930
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Abnormality of the elbow, Short stature, Brachydactyly	ORPHA:2701
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Wormian bones, Short stature, Metaphyseal widening, Broad palm, Coxa vara, Flattened epiphysis, M...	OMIM:300232
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Tonne-Kalscheuer Syndrome	Decreased testicular size, Short stature, Hypospadias, Cryptorchidism, Growth delay, Micropenis, ...	OMIM:300978
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Chronic diarrhea, Hypogonadism, Malabsorption	OMIM:601675
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Brachydactyly	ORPHA:776
Dahlberg-Borer-Newcomer Syndrome	Renal insufficiency, Short stature, Nephropathy, Short distal phalanx of finger, Brachydactyly	ORPHA:1563
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Popliteal pterygium	ORPHA:1300
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Single transverse palmar crease, Short stature, Hypospadias, Delayed cl...	OMIM:305450
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Malrotation of colon, Cryptorchidism, High, narrow pala...	OMIM:122470
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Bent Bone Dysplasia Syndrome 1	Bent long bone, Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, Brachydactyly	OMIM:614592
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short stature, Short metatarsal, Hypogonadism, Low urinary cyclic AMP response ...	OMIM:612462
Cantu Syndrome	Broad hallux, Short hallux, Coxa valga, Metaphyseal widening, Broad first metatarsal, Hypoplastic...	OMIM:239850
Mucolipidosis Ii Alpha/Beta	Hypoplastic scapulae, Craniosynostosis, Coxa valga, Metaphyseal widening, Split hand, Hip disloca...	OMIM:252500
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ...	ORPHA:90652
Lambert Syndrome	Hypospadias	OMIM:245550
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Three M Syndrome 2	Scapular winging, Severe short stature, Short stature, Slender long bone, Short 5th finger, Promi...	OMIM:612921
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly	ORPHA:1514
Ritscher-Schinzel Syndrome 1	Hypospadias, Ventricular septal defect, Cleft palate, Aortic valve stenosis, Hypoplastic left hea...	OMIM:220210
Silver-Russell Syndrome	Sandal gap, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Upper limb ...	ORPHA:813
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Metatarsus adductus, Small hand, Scapular muscle atrophy, Hip dysplasia, Talipe...	OMIM:181405
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ...	OMIM:617425
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Limited knee flexion, Calcaneovalgus deformit...	OMIM:615065
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo...	OMIM:600785
Fetal Trimethadione Syndrome	Atrial septal defect, Hypospadias, Ventricular septal defect, High palate, Transposition of the g...	ORPHA:1913
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ...	ORPHA:3097
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Clark-Baraitser Syndrome	Clinodactyly, Sandal gap	OMIM:617752
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Short stature, Craniosynostosis, Femo...	OMIM:616723
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Antecubital pterygium, Fus...	OMIM:618469
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93260
Mucopolysaccharidosis, Type Ii	Severe short stature, Short stature, Heparan sulfate excretion in urine, Split hand, Dermatan sul...	OMIM:309900
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A...	ORPHA:93111
Spinocerebellar Ataxia, Autosomal Recessive 20	Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly	OMIM:616354
Acute Intermittent Porphyria	Dark urine, Nausea and vomiting, Renal insufficiency, Dysuria, Urinary incontinence, Abdominal pa...	ORPHA:79276
Otoonychoperoneal Syndrome	Hypospadias	OMIM:259780
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Calcaneovalgus deformity, Severe postnatal growth...	ORPHA:3078
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis, Co...	ORPHA:73246
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Cleft pala...	ORPHA:2075
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Short stature, Primary amenorrhea, Cubitus valgus, Brachydactyly	ORPHA:247768
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ...	OMIM:613684
Osteoglosphonic Dysplasia	Severe short stature, Rhizomelia, Craniosynostosis, Cryptorchidism, Brachydactyly	ORPHA:2645
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig...	ORPHA:69085
Coffin-Siris Syndrome 6	Wormian bones, Clinodactyly, Brachydactyly	OMIM:617808
Porphyria Variegata	Neurogenic bladder, Abdominal pain, Chronic kidney disease, Ileus, Porphyrinuria, Increased urina...	ORPHA:79473
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hypogonadotropic hypogonadism, Hyd...	OMIM:604292
Granulomatosis With Polyangiitis	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Gastroi...	ORPHA:900
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Anal stenosis, Cry...	ORPHA:2052
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Vomiting, Abnormal intestine mor...	OMIM:226300
12Q14 Microdeletion Syndrome	Intestinal malrotation, Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact...	OMIM:613573
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Decreased liver function, Renal cyst	OMIM:614883
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ...	ORPHA:857
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho...	ORPHA:93324
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Micropenis	OMIM:616541
Gastrointestinal Stromal Tumor	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
Joubert Syndrome 20	Renal cyst	OMIM:614970
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Hydronephrosis, Sex reversal, Gonadal dy...	OMIM:154230
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachydactyly, Abnormal metacarpal morphology	ORPHA:93262
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Short stature, Hypoplastic ilia, Cryptorchidism, P...	ORPHA:85201
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Feeding difficulties, Tubu...	OMIM:617595
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Hip contracture, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contracture, Knee f...	OMIM:616266
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi...	ORPHA:99429
Van Maldergem Syndrome 2	Bifid scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Feeding difficulties, Anteriorly pl...	OMIM:615546
Hereditary Mixed Polyposis Syndrome	Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi...	ORPHA:157794
Jansen-De Vries Syndrome	Short foot, Small hand, Brachydactyly	OMIM:617450
Say Syndrome	Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia	OMIM:181180
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Brachydactyly	ORPHA:436245
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Microphthalmia, Lenz Type	Finger syndactyly, Hydroureter, Short stature, Camptodactyly of finger, Hypospadias, Renal hypopl...	ORPHA:568
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Short stature, Proteinuria, Chronic kidney disease, ...	OMIM:208500
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi...	ORPHA:90793
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Mesomelia, Camptodactyly, Prominent fingertip pads, Clinodactyly, Broad...	OMIM:618529
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing...	ORPHA:485405
Trisomy 17P	Hypoplasia of penis, Urethral valve, Short stature, Prominent metopic ridge, Tapered finger, Uret...	ORPHA:261290
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Vomiting, Gastroesophagea...	OMIM:270400
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Short stature, Hydronephrosis	OMIM:620141
Townes-Brocks Syndrome 1	Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re...	OMIM:107480
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly	OMIM:618901
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Abdominal pain, Malab...	ORPHA:131
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta...	ORPHA:973
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Short stature, Craniosynostosis, Metaphyseal chondrodysplasia, C...	ORPHA:166035
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Brachydactyly	OMIM:614526
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Unilateral renal hypoplasia	OMIM:619955
Cerebrofacioarticular Syndrome	Anal stenosis, Hypospadias, Feeding difficulties in infancy, Renal hypoplasia, Anteriorly placed ...	ORPHA:314679
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pyloric stenosi...	OMIM:218350
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly	ORPHA:261272
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Autosomal Recessive Spastic Paraplegia Type 20	Short stature, Dysuria, Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphol...	ORPHA:101000
Silver-Russell Syndrome 3	Syndactyly, Short stature, Unilateral cryptorchidism, Postnatal growth retardation, Small hand, A...	OMIM:616489
Mucopolysaccharidosis Type 1	Joint dislocation, Short stature, Split hand, Mucopolysacchariduria, Abnormal epiphysis morpholog...	ORPHA:579
Shigellosis	Anorexia, Abdominal pain, Hemolytic-uremic syndrome, Intestinal perforation, Peritonitis, Urethri...	ORPHA:810
Radio-Renal Syndrome	Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Renal hypoplasia/...	ORPHA:3015
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Premature osteoarthritis, Flared metap...	OMIM:215150
Thanatophoric Dysplasia Type 2	Short stature, Abnormality of the kidney, Micromelia, Abnormal metaphysis morphology, Brachydactyly	ORPHA:93274
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Hall-Riggs Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2107
Joubert Syndrome 18	Lobulated tongue, Cleft palate, Renal cyst, Horseshoe kidney	OMIM:614815
Congenital Disorder Of Glycosylation, Type Id	Long fingers, Talipes equinovarus, Clinodactyly, Joint contracture of the hand, Clinodactyly of t...	OMIM:601110
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Diarrhea, Renal cyst, Proximal tubulopathy, Vomiting, Protein-losing enteropathy...	OMIM:602579
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Short stature, Craniosynostosis, Cryptorchidism, Growth delay, Hydronephrosis, Brachydactyly	ORPHA:457193
Filippi Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly	OMIM:272440
Carey-Fineman-Ziter Syndrome	Short stature, Aplasia of the pectoralis major muscle, Glandular hypospadias, Ulnar deviation of ...	ORPHA:1358
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short stature, Short toe, Short phalanx of finger, Typ...	OMIM:600430
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Tapered finger, Small hand, Short foot, Clinodactyly	OMIM:618089
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Short stature, Craniosynostosis, Metaphyseal chondrodysp...	OMIM:250410
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Short stature, Hypospadias, Cryptorchidism, Small hand, Short p...	ORPHA:1786
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Acrofacial Dysostosis, Catania Type	Cryptorchidism, Spina bifida occulta, Hypospadias	OMIM:101805
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Abnormal ossification involving the femoral head and ...	ORPHA:1190
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn...	DECIPHER:81
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Short stature, Proteinuria, Micromelia, Ulnar bowing, Nephropathy, Madelung deform...	ORPHA:1765
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p...	OMIM:302960
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly	OMIM:602501
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Lobulated tongue...	OMIM:616300
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
Muenke Syndrome	Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran...	ORPHA:53271
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular...	OMIM:618162
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th finger, Joint...	OMIM:618914
Xylt1-Cdg	Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clav...	ORPHA:370930
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocated r...	OMIM:268310
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Brachydactyly	OMIM:618381
Triploidy	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Cryptorchidism, Meningo...	ORPHA:3376
Larsen Syndrome	Vertebral fusion, Short metacarpal, Short stature, Spatulate thumbs, Elbow dislocation, Cryptorch...	OMIM:150250
Diaphanospondylodysostosis	Multiple renal cysts, Cleft palate	ORPHA:66637
Aredyld Syndrome	Short stature, Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Intrauterine gr...	ORPHA:1133
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Dilatation of the renal pelvis, Hors...	ORPHA:314588
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur...	ORPHA:343
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Short stature, Single transverse palmar crea...	OMIM:305400
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,...	OMIM:250790
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Prominent metopic ridge, Clinodactyly	OMIM:620316
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Single transverse palmar crease, Postnatal growth retardation, Camptod...	ORPHA:254528
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,...	OMIM:614800
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Short stature, Metaphyseal widening, Split hand, Disproportionate short-tru...	OMIM:253200
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Feeding difficulties, ...	OMIM:618454
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Endometriosis, Unilateral re...	OMIM:613680
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular septal defect, Ovotestis, Pul...	OMIM:611812
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Abdominal disten...	ORPHA:93271
Schilbach-Rott Syndrome	Clinodactyly, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly	OMIM:164220
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Peroxisome Biogenesis Disorder 3A (Zellweger)	Feeding difficulties in infancy, Poor suck, Polycystic kidney dysplasia	OMIM:614859
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Fanconi Anemia, Complementation Group I	Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney	OMIM:609053
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviation of the hand...	OMIM:218600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Genu valgum, Cli...	OMIM:620072
Silver-Russell Syndrome 1	Syndactyly, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger, Short middle ...	OMIM:180860
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Feeding difficulties in infancy, Cry...	OMIM:261540
Gracile Bone Dysplasia	Short stature, Flared metaphysis, Slender long bone, Micropenis, Brachydactyly	OMIM:602361
X-Linked Intellectual Disability, Hedera Type	Hyporeflexia of upper limbs, Calcaneovalgus deformity	ORPHA:93952
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Growt...	OMIM:619269
Van Maldergem Syndrome 1	Hypospadias, Renal hypoplasia, Feeding difficulties, Anteriorly placed anus, High palate, Anal at...	OMIM:601390
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo...	ORPHA:281090
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Short stature, Abnormality of the upper urinary tract, Elbow dislocation, Posta...	ORPHA:2916
Coffin-Siris Syndrome 2	Sandal gap, Short stature, Cryptorchidism, Intrauterine growth retardation, Short distal phalanx ...	OMIM:614607
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm...	ORPHA:3194
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge...	OMIM:274000
N Syndrome	Cryptorchidism, Hypospadias	OMIM:310465
Hartsfield Syndrome	Syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Growth delay, Ectrodactyly, Micropenis	OMIM:615465
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o...	OMIM:615789
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Cryptorchidism, Vesicoureteral reflux, Short...	ORPHA:250989
Smith-Magenis Syndrome	Short stature, Abnormal renal morphology, Broad palm, Abnormality of the urinary system, Short pa...	OMIM:182290
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Antecubital pterygium, Aplasia/hypoplasia ...	ORPHA:40366
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility, Aplasia of the ovary	OMIM:614324
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:2475
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val...	OMIM:618150
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop...	ORPHA:2198
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Dextrocardia, Edema, Malabsorption, Abnormal vagina morphology,...	ORPHA:2315
Temtamy Syndrome	Short 2nd toe, Hip dislocation, Talipes equinovarus, Brachydactyly	OMIM:218340
Gorlin Syndrome	Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Bra...	ORPHA:377
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp...	OMIM:614129
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Atrial septal defect, Atrioventric...	OMIM:265380
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor...	ORPHA:2059
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Hand muscle weakness, Split hand, Hammertoe, Hyporeflexia of upper limbs, Jo...	ORPHA:90658
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Clubbing of toes, Multiple re...	ORPHA:1318
Campomelic Dysplasia	Bowing of the long bones, Short stature, Small abnormally formed scapulae, Hip dislocation, Fibul...	ORPHA:140
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Finger syndactyly, Multicystic kidney dysplasia...	ORPHA:818
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Brachydactyly	ORPHA:2180
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias	ORPHA:2115
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut...	OMIM:110100
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Clinodactyly, Broad thumb, Long hallux	OMIM:620194
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra...	OMIM:304120
Osteoglophonic Dysplasia	Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacarpals, Short ...	OMIM:166250
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ...	OMIM:300707
Omodysplasia 2	Short humerus, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic distal humeri, Rh...	OMIM:164745
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short stature, Multicystic ki...	ORPHA:1001
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o...	ORPHA:783
3C Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Abnormal mitral valve morphology, In...	ORPHA:7
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia	ORPHA:75389
Congenital Disorder Of Glycosylation, Type Iir	Ascites, Hypospadias	OMIM:301045
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Malabsorption, Feeding difficulties in infancy, Crypto...	ORPHA:912
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h...	ORPHA:261344
Solitary Rectal Ulcer Syndrome	Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer	ORPHA:209964
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypoplasia of penis, Hypospadias, Nephrolithiasis	ORPHA:1816
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Atrial septal defect, Hypospadias, Ventricular septal defect, Parachute mitral valve, Intestinal ...	OMIM:618316
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Endometriosis, Unilat...	ORPHA:363444
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Short metatarsal, Small hand, Oligozoospermia, Cone-...	OMIM:614813
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Abdominal distention, Urethral atresia, Aplasia of the vagina, Aplasia...	OMIM:271520
Cleft Palate-Large Ears-Small Head Syndrome	Hypospadias, Cleft palate	ORPHA:2013
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Vesicoureteral reflux, Abnormality of the wrist, Micropenis, Elbow ankylosis, Sho...	ORPHA:95699
Adult Syndrome	Split foot, Toe syndactyly, Split hand	OMIM:103285
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Hypospadias, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:2508
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Bifid uvula, Submucous cleft hard palate, Renal hypoplasia	OMIM:617660
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arte...	ORPHA:500159
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oli...	OMIM:305600
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Renal hypoplasia, Hypoplasia of the ovary, Micropenis,...	OMIM:619321
Meckel Syndrome, Type 6	Abnormal internal genitalia, Renal cyst, Horseshoe kidney, Cleft palate, Aplasia of the bladder, ...	OMIM:612284
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Abnormality of the kidney, Abnormal pulmonary valve morphology, Cryptorchidism, 3-Me...	ORPHA:1194
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arter...	OMIM:617516
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Short stature, Single transverse palmar crease, Rocker b...	OMIM:272950
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Large hands, Abnormal metacarpal mor...	ORPHA:3219
Intellectual Disability, Buenos-Aires Type	Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Short stature, Hydronephr...	ORPHA:3079
Trisomy 9P	Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases	ORPHA:236
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Cubitus valgus, Brachydactyly	OMIM:620237
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Severe short stature, Monorchism, Camptodactyly of finger, ...	ORPHA:2753
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Edema, Cryptorchidism, Cleft palate, Abnormality of the scrotum, Umbi...	ORPHA:2505
Distal Deletion 10Q	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Functional abnormality of the blad...	ORPHA:96148
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe...	OMIM:618280
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal u...	ORPHA:913
Three M Syndrome 1	Joint dislocation, Scapular winging, Short stature, Hypospadias, Postnatal growth retardation, Hi...	OMIM:273750
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteri...	ORPHA:77298
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Hypospadias, Intestinal malrotation, Tracheoesophageal fi...	OMIM:601346
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Abdominal distention, Abnormal renal morphology, High palate, Abnormality of the ...	ORPHA:1655
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Microcephaly-Capillary Malformation Syndrome	Short stature, Vesicoureteral reflux, Clinodactyly, Short distal phalanx of finger, Brachydactyly	OMIM:614261
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Chronic diarrhea, Glomerulonephritis, Ileus	OMIM:304790
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Spinal Muscular Atrophy, X-Linked 2	Cryptorchidism, Micropenis, Hypospadias	OMIM:301830
Phakomatosis Pigmentokeratotica	Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasi...	ORPHA:2874
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Trisomy 4P	Cryptorchidism, Hypospadias	ORPHA:1738
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr...	OMIM:277170
Neuroendocrine Neoplasm Of Appendix	Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Poor a...	ORPHA:100079
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, High, narrow palate, Patent ductus arteriosus, Rectal prolapse, Aden...	ORPHA:79076
Hydatidiform Mole	Nausea and vomiting, Menometrorrhagia, Enlarged uterus	ORPHA:99927
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Partial duplication of thumb phal...	OMIM:618348
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Acrofrontofacionasal Dysostosis 2	Syndactyly, Hand polydactyly, Broad hallux, Broad thumb	OMIM:239710
Nephrotic Syndrome, Type 11	Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly	OMIM:616730
Craniofacioskeletal Syndrome	Short stature, Hypospadias, Cryptorchidism, Small hand, Short foot, Short palm, Clinodactyly of t...	OMIM:300712
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Ureteral stenosis, Coxa valga, Flared metaphysis, Hip disloc...	OMIM:309350
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Cubitus valgus, Ureteral triplication, Hydronephrosis	OMIM:104350
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Peutz-Jeghers Syndrome	Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Hamartomatous polyposis, Ova...	OMIM:175200
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Opitz Gbbb Syndrome	Hypospadias, Ventricular septal defect, Rectourethral fistula, Cryptorchidism, Cleft palate, Cong...	OMIM:300000
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones	ORPHA:1323
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Postnatal growth retardation, Abnormal fingertip morphology	ORPHA:529965
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Dysostosis, Stanescu Type	Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Micromelia, Abnorma...	ORPHA:1798
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Feeding difficulties in...	OMIM:257300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Micrognathia,...	ORPHA:3082
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short metacarpal, Toe syndactyly, Short metatarsal, Small hand, Small finger, S...	OMIM:170390
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Testicular mass, ...	ORPHA:457083
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Duplicated collecting system, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot...	ORPHA:488642
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge...	OMIM:300963
Gillessen-Kaesbach-Nishimura Syndrome	Bicornuate uterus, Polycystic kidney dysplasia	OMIM:263210
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypospadias	OMIM:179250
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Tibial bowing, Femoral bowing, Knee flexion con...	OMIM:601559
Short-Rib Thoracic Dysplasia 12	Intestinal malrotation, Hamartoma of tongue, Renal hypoplasia, Lobulated tongue, Protuberant abdo...	OMIM:269860
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Short stature, Hypoplastic ilia, Flared metaphysi...	OMIM:615349
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, Sagittal cranio...	OMIM:614099
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Deep plantar creases, Abnormal...	ORPHA:1517
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia, Anal atresia	ORPHA:3301
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ...	OMIM:271510
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormal testis morphology, Hypospadias	ORPHA:1548
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Bowel incontinence, Cryptorchidism, Pylori...	ORPHA:261494
Distal Duplication 5Q	Hypoplasia of the ulna, Short stature, Hypospadias, Craniosynostosis, Absent thumb, Cryptorchidis...	ORPHA:96097
C Syndrome	Short metacarpal, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation, Ulnar ...	OMIM:211750
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh...	ORPHA:67
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Abnormal renal morphology, Cleft palate, Abnormal heart morphology, Anteri...	OMIM:239300
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal s...	ORPHA:35173
Cutis Laxa, Autosomal Recessive, Type Ic	Periorbital edema, Vascular dilatation, Rectal prolapse, Pyloric stenosis, Gastroesophageal reflu...	OMIM:613177
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Feeding difficulties, Nephrocalcinosis, Aminoaciduria, High palate, Renal arter...	OMIM:617913
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, 3-Methylglutar...	OMIM:610198
Zechi-Ceide Syndrome	Sandal gap, Short metatarsal, Short distal phalanx of finger	OMIM:612916
Braddock-Carey Syndrome 1	Clinodactyly, Small hand, Talipes equinovarus, Camptodactyly	OMIM:619980
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Clinodactyly, Short 5th finger, Hypoplasia of the capital femoral epiphysis	ORPHA:557003
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr...	ORPHA:8
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin...	ORPHA:314585
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Abnormality of the knee, Broad hallux, Postnatal growth retardation, C...	ORPHA:251028
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Taper...	ORPHA:261349
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific...	OMIM:271665
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Tarsal Coalition	Tarsal synostosis	OMIM:186850
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad thumb, Broad distal phalanx of finger, Brachydactyly	OMIM:617763
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Avascular necrosis of the capital femoral epiphysis, S...	ORPHA:77258
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Camptodactyly, Clinodactyly, Bilateral single transv...	OMIM:618804
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, Brachydactyly	OMIM:619995
You-Hoover-Fong Syndrome	Clinodactyly, Brachydactyly	OMIM:616954
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Cryptorchidism, Horseshoe kidney, C...	ORPHA:99776
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Glandular hypospadias, Nephrotic syndrome, Shawl scrotum	ORPHA:2575
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f...	OMIM:600987
Ehlers-Danlos Syndrome, Classic-Like	Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou...	OMIM:606408
Kallmann Syndrome With Spastic Paraplegia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, High palate, Micropenis...	OMIM:308750
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi...	ORPHA:93929
Cystic Echinococcosis	Abdominal symptom, Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cy...	ORPHA:400
Perrault Syndrome 4	Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter...	OMIM:615300
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Umbilica...	OMIM:617751
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Talipes, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the...	ORPHA:1234
Rin2 Syndrome	Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Brachydactyly	ORPHA:217335
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Secondary Intestinal Lymphangiectasia	Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsi...	ORPHA:90363
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Intestinal malrotation, Oligohydramnios, Fetal megacystis, Generalized edema	OMIM:249210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hypogonadotropic hypogonadism, Hyd...	OMIM:129900
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Slende...	OMIM:613805
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri...	OMIM:201810
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Drumstick terminal phalanges, Growth delay, Intrauterine growth ret...	ORPHA:541423
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Nep...	ORPHA:99880
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius	ORPHA:246
Temple Syndrome	Short foot, Clinodactyly, Small hand	OMIM:616222
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis...	OMIM:614701
Fraser Syndrome 1	Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal...	OMIM:219000
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy...	OMIM:613762
Hajdu-Cheney Syndrome	Short stature, Hypospadias, Cryptorchidism, Osteolytic defects of the phalanges of the hand, Foot...	OMIM:102500
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Long fingers, Cryptorchidism, Patellar dislocation, Finger joint hyper...	OMIM:617557
Radial Aplasia, X-Linked	Penile hypospadias, Anal atresia	OMIM:312190
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Tyrosinemia, Type I	Acute hepatic failure, Gastrointestinal hemorrhage, Renal insufficiency, Nephrocalcinosis, Paraly...	OMIM:276700
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Camptodactyly, Uln...	ORPHA:562528
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Vesicoureteral reflux, ...	ORPHA:96061
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Single transverse palmar crease, Pro...	OMIM:210600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Coxa valga, Tapered finger, Postnatal growth retardation, Cryptorchi...	OMIM:301040
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Clinodactyly, Talipes equinovarus	OMIM:616789
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
3Mc Syndrome 1	Single interphalangeal crease of fifth finger, Postnatal growth retardation, Short foot, Growth d...	OMIM:257920
Ruijs-Aalfs Syndrome	Clinodactyly, Down-sloping shoulders, Elbow flexion contracture, Single transverse palmar crease	OMIM:616200
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc...	OMIM:143095
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Short stature, Cryptorchidism, Partial duplication of thumb phalanx, Partial dupli...	OMIM:616331
Congenital Disorder Of Glycosylation, Type Iif	Clinodactyly	OMIM:603585
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Short stature, Renal agenesis, Preaxial hand polydactyly, Intrauter...	ORPHA:1297
Trisomy 20P	Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Preaxial hand...	ORPHA:261318
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes	OMIM:192445
Cleidocranial Dysplasia	Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph...	ORPHA:1452
Pycnodysostosis	Persistent open anterior fontanelle, Aplastic clavicle, Osteolytic defects of the distal phalange...	OMIM:265800
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Abnorma...	ORPHA:2021
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia, Decreased liver function	OMIM:600666
Congenital Myopathy 17	Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Renal hypoplasia, Hand clenc...	OMIM:618975
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th...	OMIM:192350
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Cryptorchidism, Abnormal heart morphology, Umbilical hernia	OMIM:601499
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Aplasia of the phalanges of the 3rd toe	ORPHA:2229
D-Bifunctional Protein Deficiency	Split hand, Renal cyst, Hammertoe, Talipes equinovarus, Delayed cranial suture closure	OMIM:261515
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly	OMIM:616028
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Parathyroid Carcinoma	Nausea and vomiting, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Nep...	ORPHA:143
Koolen-De Vries Syndrome	Ureteral duplication, Vertebral fusion, Short stature, Arachnodactyly, Hypospadias, Cryptorchidis...	ORPHA:96169
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Constipation, Vomiting	ORPHA:32960
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Micropenis, Hypospadias	OMIM:618840
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn...	ORPHA:435938
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Prominent fingertip pads, Clinodactyly, Single transverse palmar crease	ORPHA:391372
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:168558
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Postnatal growth retardation, ...	ORPHA:96179
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Short stature, Renal agenesis, Renal hypoplasia/aplasia, Bilat...	ORPHA:2754
Rauch-Steindl Syndrome	Bilateral renal hypoplasia, Feeding difficulties, Chronic constipation, Hyperechogenic kidneys, E...	OMIM:619695
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Hypospadias, Postnatal growth retardation, Short long bone, Short palm, Intrauterine growth retar...	OMIM:619184
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Meckel diverticulum, Hypospadias, Ventricular septal d...	ORPHA:1708
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Severe short stature, A...	ORPHA:2461
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr...	ORPHA:2886
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Ureteral duplication, Renal insufficiency, Renal dysplasia, Tapered toe, Long-chain dic...	OMIM:608836
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Talipes equinovarus, ...	ORPHA:1512
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Feeding difficulties, Dysphagia, Vesicoureter...	OMIM:618460
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Esophageal varix, Stage 5 chroni...	OMIM:216360
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Fgfr2-Related Bent Bone Dysplasia	Hypoplastic ischia, Bowing of the legs, Metopic depression, Short clavicles, Steep acetabular roo...	ORPHA:313855
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short foot, Clinodactyly, Small hand	ORPHA:96184
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, 2-3 toe syndactyly...	OMIM:617061
Orthostatic Hypotension 1	Retrograde ejaculation, Nocturia, Brachydactyly	OMIM:223360
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:289548
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Symphalangism affecting the phalanges of the hand,...	ORPHA:1292
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Marinesco-Sjogren Syndrome	Short metacarpal, Short stature, Hypergonadotropic hypogonadism, Coxa valga, Short metatarsal, Cu...	OMIM:248800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin...	ORPHA:2636
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Short stature, Abnormality of thumb ...	ORPHA:235
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Malabsorption, Ileus, Secretory diarrhea, Tubulointerstitial nephritis, Nephrotic synd...	ORPHA:37042
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Delayed closure of the anterior fontan...	ORPHA:96182
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Genu recurvatum, Lo...	ORPHA:230851
Axial Osteomalacia	Renal cyst	OMIM:109130
Adult Syndrome	Finger syndactyly, Toe syndactyly, Split foot	ORPHA:978
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Cryptorchidism, Ulnar bowing, Shortening of...	OMIM:619135
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Isolated Epispadias	Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Bi...	ORPHA:93928
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoosper...	OMIM:308700
Meckel Syndrome, Type 2	Cleft palate, Intestinal malrotation, Renal cyst	OMIM:603194
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico...	ORPHA:107
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hypoplastic iliac wing, Postnatal growth retardation, Disproportionate short-trunk short stature,...	OMIM:313400
Fanconi Anemia, Complementation Group S	Clinodactyly, Proximal placement of thumb	OMIM:617883
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Hypospadias, Deviation of th...	ORPHA:464738
Buratti-Harel Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Subm...	OMIM:619314
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly	OMIM:618027
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Intrauterine growth retardation, Brachydactyly, Drumstick terminal phalanges	OMIM:612938
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Cryptorchidism, Hip dislocation, Hyposthenuria, Vesicoureteral...	OMIM:615926
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hy...	OMIM:300968
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Esophagitis, Palpebral edema, Hypospadias	ORPHA:79350
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Limited knee flexion, Fibular hypoplasia, ...	OMIM:258315
Blue Rubber Bleb Nevus	Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception	OMIM:112200
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Clinodactyly, Scapular winging, Down-sloping shoulders, Tapered finger	OMIM:615560
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormal morphology of female internal ge...	ORPHA:991
Insulin-Like Growth Factor I Deficiency	Clinodactyly of the 5th finger, Intrauterine growth retardation, Postnatal growth retardation, Sh...	OMIM:608747
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Cystic Fibrosis	Male infertility, Meconium ileus, Rectal prolapse, Diarrhea, Ileus, Hypercalciuria, Steatorrhea, ...	OMIM:219700
Alkuraya-Kucinskas Syndrome	Overlapping toe, Cutaneous syndactyly, Talipes equinovarus, Camptodactyly, Hand clenching, Overla...	OMIM:617822
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia	OMIM:606764
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to...	ORPHA:3255
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Ovarian neoplasm, Co...	ORPHA:157798
Ellis-Van Creveld Syndrome	Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Epispadias, Genu...	OMIM:225500
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly	OMIM:619123
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Renal agenesis, Hypospadias, Aganglionic megacolon, Intestin...	OMIM:229850
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Renal hy...	ORPHA:2166
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Cleft palate, Aminoaciduria, Polycystic kidney dysplasia, Poor suck, Clitoral hyp...	OMIM:214110
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Arachnodactyly, Hypospadias, Short hallux, Abnormality of the kidney, Sh...	ORPHA:280
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Short stature, Cryptorchidism, Short foot, Large hands, Talipes equino...	OMIM:300534
8P23.1 Microdeletion Syndrome	Hypospadias, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic ca...	ORPHA:251071
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Intellectual Developmental Disorder, X-Linked 99	Gastroesophageal reflux, Hypospadias, Ectopic kidney	OMIM:300919
Maxillonasal Dysplasia	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes	ORPHA:1248
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Tetrasomy 5P	Overlapping toe, Short hallux, Micrognathia, Long fingers, Talipes equinovarus, Clinodactyly of t...	ORPHA:3309
Wolf-Hirschhorn Syndrome	Vertebral fusion, Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hall...	OMIM:194190
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft palate, Hydronephrosis...	OMIM:243605
Takenouchi-Kosaki Syndrome	Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene...	OMIM:616737
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Hypospadias	OMIM:616910
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Bowel in...	ORPHA:567
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ...	OMIM:178110
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Cryptorchidism, Genu valgum, Growth delay, Micropenis, Hydronephrosis	OMIM:617798
Greenberg Dysplasia	Micromelia, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death, Short phalanx of finger...	OMIM:215140
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Short...	OMIM:615656
Roifman-Chitayat Syndrome	Short metacarpal, Ectopic kidney, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
Malignant Peritoneal Mesothelioma	Abdominal distention, Peritonitis, Ileus, Abdominal pain	ORPHA:168811
Aprosencephaly Syndrome	Hand oligodactyly	OMIM:207770
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Increased density of long bones, Single transverse palmar crease, Hypospadias,...	OMIM:269150
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Joint dislocation, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus cal...	ORPHA:536532
Oliver Syndrome	Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Knee f...	ORPHA:2920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca...	OMIM:271640
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys...	OMIM:610442
Proximal Xq28 Duplication Syndrome	Cryptorchidism, Hypospadias	ORPHA:1762
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Deep palmar crease, Displacement of...	ORPHA:1752
Meckel Syndrome, Type 5	Cleft palate, Renal cyst	OMIM:611561
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Cleft palate, Hypoplastic left heart, Transposition...	ORPHA:1727
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Elbow dislo...	ORPHA:199
Branchiootorenal Syndrome 1	Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal steatosis, Cleft pala...	OMIM:113650
14Q22Q23 Microdeletion Syndrome	Cryptorchidism, Small scrotum, Renal hypoplasia	ORPHA:264200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Short stature, Rocker bottom foot, Hypospadias...	ORPHA:163979
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Decreased scrotal rugation, Abnormal cardiac ventr...	ORPHA:261311
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Feeding difficulties in infancy, Bilateral cleft lip and palate, Ch...	OMIM:618829
Pallister-Hall Syndrome	Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ...	ORPHA:672
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Short palm, Clinodactyly, Brachydactyly	OMIM:217980
Koolen-De Vries Syndrome	Vertebral fusion, Recurrent urinary tract infections, Prominent metopic ridge, Short stature, Cry...	OMIM:610443
Congenital Myopathy 19	Cryptorchidism, Renal atrophy, Hydronephrosis	OMIM:618578
19P13.3 Microduplication Syndrome	Long fingers, Hip dislocation, Hip dysplasia, Clinodactyly, Hip subluxation	ORPHA:447980
Cinca Syndrome	Joint dislocation, Abnormal joint morphology, Delayed closure of the anterior fontanelle, Brachyd...	ORPHA:1451
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Short stature, Hypergonadotropic hypogonadism, Short me...	ORPHA:79444
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clinodactyly of ...	OMIM:136140
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatoblastoma, Renal hypoplasia, Bloody diarrhea, Colitis, Polycysti...	ORPHA:84064
Ring Chromosome 12 Syndrome	Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb	ORPHA:1439
Monosomy 18P	Brachydactyly	ORPHA:1598
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypospadias	ORPHA:2252
Smith-Magenis Syndrome	Toe syndactyly, Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal loca...	ORPHA:819
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposi...	ORPHA:447877
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Recurrent urinary tract infections, Short stature, Abnormality of the kidney...	ORPHA:847
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft pal...	OMIM:270420
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Aarskog-Scott Syndrome	Finger syndactyly, Pes planus, Genu recurvatum, Single transverse palmar crease, Camptodactyly of...	ORPHA:915
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Long fingers, Cryptorchidism, Hip dislocation, Abnormality of the urin...	ORPHA:96092
Severe Congenital Nemaline Myopathy	Hypospadias, Polyhydramnios, Edema of the dorsum of hands, Dysphagia, Micropenis	ORPHA:171430
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Fe...	OMIM:212065
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t...	ORPHA:371428
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophageal reflux, Hypo...	OMIM:619488
Spastic Paraplegia 9A, Autosomal Dominant	Short stature, Urinary incontinence, Urinary urgency, Abnormal pelvic girdle bone morphology, Car...	OMIM:601162
Opitz Gbbb Syndrome	Bifid scrotum, High palate, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, En...	ORPHA:2745
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Metaphyseal widening, Triangular shaped distal phalanges of the han...	ORPHA:73230
Ulbright-Hodes Syndrome	Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re...	ORPHA:3404
Rhombencephalosynapsis	Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx	ORPHA:59315
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Tapered finger	OMIM:619680
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Short stature, Tapered finger, Delayed epiphyseal ossification, Flare...	OMIM:616007
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis, Postnatal growth retardation, Hip dislocation, Talipes equinovarus, Wo...	OMIM:616603
Kabuki Syndrome 2	Short stature, Postnatal growth retardation, Hip dislocation, Horseshoe kidney, Short 5th finger,...	OMIM:300867
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Ppoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia...	ORPHA:97278
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Cleft palate, Hypoplasia of ...	OMIM:309801
Renpenning Syndrome	Hypospadias, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia	ORPHA:3242
Goldberg-Shprintzen Megacolon Syndrome	Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate	ORPHA:66629
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Prominent metopic ridge, Abnormality of the kidney, Tapered finger, Long fingers, Calcaneovalgus ...	ORPHA:521445
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Postna...	OMIM:263750
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly	ORPHA:397709
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Intestinal perforation, Rectal prolapse, Colonic stenosis, Dehydration, Hemoglobinuria, A...	ORPHA:90038
Raine Syndrome	Bowing of the long bones, Hydroureter, Short stature, Micromelia, Hydronephrosis, Neonatal death,...	OMIM:259775
Andersen-Tawil Syndrome	Renal tubular dysfunction, High palate, Renal hypoplasia	ORPHA:37553
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly of the 5th finger, Clinodactyly, Single transverse palmar crease	ORPHA:73272
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Toxic Epidermal Necrolysis	Acute hepatic failure, Nausea and vomiting, Renal insufficiency, Gastrointestinal hemorrhage, Dys...	ORPHA:537
Rapadilino Syndrome	Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, Absent thumb	OMIM:266280
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Cryptorchidism, Meningocele, Abnormality of the ureter, Abnormal morphology of femal...	ORPHA:2311
Syngap1-Related Developmental And Epileptic Encephalopathy	High palate, Hypospadias	ORPHA:544254
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Disproportionate short stature, Coxa vara, Narrow pelvis bone, Abnormal epiphysis mor...	ORPHA:2637
Luscan-Lumish Syndrome	Short stature, Advanced ossification of carpal bones, Irregular menstruation	OMIM:616831
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short metacarpal, Limited elbow movement, Craniosynostosis, Preaxial hand polydactyly, Enlarged m...	ORPHA:508533
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst, Steatorrhea, Fat malabsorption, Hepatic failure	ORPHA:79303
Meckel Syndrome 14	Abdominal distention, Aplasia of the uterus, Protuberant abdomen, Ambiguous genitalia, Polycystic...	OMIM:619879
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Arthrogryposis Multiplex Congenita 6	Hypospadias, Polyhydramnios	OMIM:619334
Hereditary Xanthinuria	Crystalluria, Arthropathy, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinu...	ORPHA:3467
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Severe short stature, Hypospadias, Cryptorchidism, Epis...	ORPHA:2588
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Tapered finger, Ankle flexion contracture, Cryptorchidism...	ORPHA:464311
Alg8-Cdg	Brachydactyly, Talipes equinovarus, Camptodactyly	ORPHA:79325
Floating-Harbor Syndrome	Enlarged joints, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Sh...	ORPHA:2044
Fg Syndrome Type 1	Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s...	ORPHA:93932
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral retroversion,...	OMIM:610682
Occipital Horn Syndrome	Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Capitate-h...	OMIM:304150
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Severe short stature, Camptodactyly of finger, Abnormality of th...	ORPHA:2273
Kleefstra Syndrome 1	Hypospadias, Single transverse palmar crease, Cryptorchidism, Abnormal renal morphology, Talipes ...	OMIM:610253
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly	ORPHA:60040
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition o...	OMIM:313850
Restrictive Dermopathy 2	Rectal prolapse, Gastroesophageal reflux	OMIM:619793
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Peroxisome Biogenesis Disorder 4A (Zellweger)	Feeding difficulties in infancy, Renal cyst	OMIM:614862
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Feeding difficulties, Pelvic kid...	ORPHA:508498
Intellectual Disability-Strabismus Syndrome	Hypospadias, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, High palate, Gastroesophag...	ORPHA:363528
Grfoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia...	ORPHA:97261
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Male hypogonadism, Decreased testicu...	ORPHA:163971
Orofaciodigital Syndrome Type 1	Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto...	ORPHA:2750
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Vesicoureteral reflux, Micro...	OMIM:618653
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Toe syndactyly, Short stature, Single transverse palmar crease, Proximal placement of thumb, Limi...	OMIM:610759
Martsolf Syndrome 1	Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger...	OMIM:212720
Al Kaissi Syndrome	Clinodactyly, Deep palmar crease, Small hand	OMIM:617694
Noonan Syndrome 13	Prominent metopic ridge, Overlapping toe, Tapered finger, Metatarsus adductus, Bilateral talipes ...	OMIM:619087
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Intestinal malrotation, Duodenal ulcer, Ectopic kidney, Feeding difficu...	OMIM:135900
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab...	OMIM:154400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Clinodactyly, Abnormality of the hand, Camptodactyly	ORPHA:369891
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Gastroesophage...	ORPHA:494344
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Hypospadias, Unilateral renal agene...	ORPHA:464306
Insulin-Like Growth Factor I, Resistance To	Sandal gap, Small hand, Short foot, Radial deviation of finger, Short finger, Clinodactyly	OMIM:270450
Seckel Syndrome 2	Microglossia, Hypospadias, Ectopic kidney	OMIM:606744
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Short stature...	OMIM:600373
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Hypospadias, Polyhydramnios, Edema, Cryptorchidism, Patent ductus arteriosus, Micr...	OMIM:607143
Musculocontractural Ehlers-Danlos Syndrome	Recurrent joint dislocation, Decreased palmar creases, Craniosynostosis, Tapered finger, Cryptorc...	ORPHA:2953
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Short stature, Rena...	OMIM:180700
Glucagonoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia...	ORPHA:97280
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal dysplasia, Renal insufficiency, Abnormal acetabulum morphology, Short stature, Hypospadias,...	ORPHA:397715
Frontorhiny	Finger clinodactyly, Camptodactyly of finger, Brachydactyly	ORPHA:391474
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand	OMIM:300845
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Hypospadias, Single transverse palmar crease, Rocker bottom foot, Me...	OMIM:214100
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Short stature, Adducted thumb, Growth delay, Overlapping fingers, Hydronephro...	OMIM:608779
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Bifid scrotum, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Penoscrotal ...	OMIM:619148
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,...	ORPHA:90794
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Down-sloping shoulders, Deviation of the 5th toe, Slender toe, Clinodactyly, Slender finger	ORPHA:391408
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Short stature, Postnatal growth retardation, Short prox...	ORPHA:261323
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Dilated cardiomyo...	ORPHA:2556
Renpenning Syndrome 1	Hypospadias, Phimosis, Renal hypoplasia, Cleft palate, High palate, Poor suck, Decreased testicul...	OMIM:309500
Cystic Fibrosis	Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesoph...	ORPHA:586
Somatostatinoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia...	ORPHA:97283
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Hypogonadism, Microcolon	ORPHA:163746
Meacham Syndrome	Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bicornuate uterus, En...	OMIM:608978
Pitt-Hopkins Syndrome	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	OMIM:610954
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Prominent calcaneus, Ankle clonus, Intrauterine growth retardation	ORPHA:565624
Hyperphosphatasia-Intellectual Disability Syndrome	Shortening of all distal phalanges of the fingers, Growth delay, Hip dysplasia, Clinodactyly, Hyd...	ORPHA:247262
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Decreased ferti...	ORPHA:870
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia	OMIM:612918
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Trichorhinophalangeal Syndrome, Type I	Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the hand, Swelling...	OMIM:190350
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, High palate	OMIM:615398
Wiedemann-Steiner Syndrome	Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Short toe, Small ...	OMIM:605130
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Brachydactyly	OMIM:620156
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior...	OMIM:616843
Trisomy 18	Short stature, Camptodactyly of finger, Abnormality of the upper urinary tract, Cryptorchidism, P...	ORPHA:3380
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Micrognathia, Bilateral triphalangeal thumbs, Short distal phalanx o...	OMIM:619356
Lowry-Maclean Syndrome	Hypospadias, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Midgut malrotation,...	ORPHA:2409
Fg Syndrome 5	Hypospadias	OMIM:300581
Acrocallosal Syndrome	Cryptorchidism, Hypospadias	ORPHA:36
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb	ORPHA:139471
Coffin-Lowry Syndrome	Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Large hands,...	ORPHA:192
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, ...	OMIM:617053
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Hypospadias	OMIM:618688
Chromosome 18Q Deletion Syndrome	Hypospadias, Absence of the pulmonary valve, Ventricular septal defect, Cryptorchidism, Patent du...	OMIM:601808
Progeria-Short Stature-Pigmented Nevi Syndrome	Premature ovarian insufficiency, Short stature, Hypergonadotropic hypogonadism, Hypospadias, Dela...	ORPHA:2959
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Metaphyseal dysplasia, Clinodactyly	OMIM:618336
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Clitoral hypertrophy, Hypospadias, Renal salt wasting, Female external genitalia in individual wi...	ORPHA:90791
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Cleft palate, Urethr...	OMIM:273395
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:620107
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Coarctation of ao...	OMIM:617602
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Upper l...	ORPHA:93315
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Fanconi Anemia	High palate, Abnormality of the uterus, Atrial septal defect, Hypospadias, Spina bifida, Aplasia/...	ORPHA:84
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Short stature, Hypospadias, Cryptorchidism,...	OMIM:304110
Williams Syndrome	Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, G...	ORPHA:904
Pycnodysostosis	Persistent open anterior fontanelle, Wormian bones, Rhizomelia, Hypoplastic iliac wing, Small han...	ORPHA:763
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Short stature, Hypospadias, Unilateral renal agenesis, Renal agenes...	OMIM:308205
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Single transverse palmar crease, T...	ORPHA:444072
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Hypospadias, Single transverse palmar crease, 2-3 toe syndactyly	OMIM:616449
Infantile Systemic Hyalinosis	Severe short stature, Camptodactyly of finger, Micromelia, Growth delay, Short palm, Brachydactyly	ORPHA:2176
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Clinodactyly of the 5th ...	OMIM:618143
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Macrodactyly	Macrodactyly	OMIM:155500
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Short stature, Irregular, rachitic-like metaphys...	ORPHA:289157
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Feeding difficulties, Nephrocalcinosis, 3-Methylglutaconic aciduria	ORPHA:445038
Blepharophimosis-Impaired Intellectual Development Syndrome	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Enures...	OMIM:619293
Kinsship Syndrome	Renal hypoplasia, Horseshoe kidney, Chronic constipation, Gastroesophageal reflux, Ankyloglossia	OMIM:619297
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Clinodactyly, Camptodactyly, Tapered finger	OMIM:619576
Warsaw Breakage Syndrome	Single transverse palmar crease, Postnatal growth retardation, 2-3 toe syndactyly, Clinodactyly o...	OMIM:613398
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Cryptorchidism, Submu...	OMIM:619103
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Hypospadias, Protruding tongue, Cryptorchidism, Renal hypoplasia, Macroglossia, Hy...	OMIM:309580
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis	ORPHA:178303
Distal Deletion 12Q	Broad hallux, Single transverse palmar crease, Overlapping toe, Short stature, Unilateral cryptor...	ORPHA:96149
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly	ORPHA:2169
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Joubert Syndrome 2	Renal insufficiency, Renal cyst, High palate, Nephronophthisis, Hypoplastic male external genitalia	OMIM:608091
Noonan Syndrome 4	Ureteral duplication, Short stature, Cryptorchidism, Cubitus valgus, Hydronephrosis	OMIM:610733
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial bowing, Short ...	OMIM:601812
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abdominal distention, Congenital pyloric atresia, Ab...	ORPHA:158684
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Vomitin...	OMIM:231680
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Anter...	ORPHA:495875
Maternal Phenylketonuria	Bifid distal phalanx of the thumb, Abnormal renal morphology, Intrauterine growth retardation, Cl...	ORPHA:2209
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis, Precocious puberty, Anteriorly placed anus, Rectovagin...	OMIM:608980
Au-Kline Syndrome	Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynos...	OMIM:616580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral...	OMIM:614080
Mosaic Trisomy 1	Renal cortical cysts, Cleft palate, Renal cyst, Micropenis, Penile hypospadias	ORPHA:1692
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Hypospadias, Ventricular septal defect, Polyhydramnios, Bilater...	OMIM:300998
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Capita...	ORPHA:289
Williams-Beuren Syndrome	Colonic diverticula, Recurrent urinary tract infections, Renal insufficiency, Feeding difficultie...	OMIM:194050
Meckel Syndrome, Type 3	Multicystic kidney dysplasia, Cleft palate	OMIM:607361
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Urinary incontinence, Intestinal malrotation, Bi...	ORPHA:2729
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th...	ORPHA:424016
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Dysphagia, Oligohydramnios	OMIM:618253
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Lethal Acantholytic Erosive Disorder	4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, 3-4 finger syndacty...	ORPHA:158687
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Short long bone, Disproportionate shor...	OMIM:619479
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Short stature, Hy...	ORPHA:2322
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly...	ORPHA:329971
Distal Renal Tubular Acidosis	Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercal...	ORPHA:18
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Severe short stature, Hypospadias, Aplastic clavicl...	ORPHA:2658
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Small hand, Short 4th metacarpal	ORPHA:1787
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Joint swelling, Abnormal epiphysis m...	ORPHA:35687
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias	OMIM:612528
Macs Syndrome	Hypergonadotropic hypogonadism, Short stature, Single transverse palmar crease, Cryptorchidism, U...	OMIM:613075
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chondromatosis of radius, Short p...	ORPHA:99646
Intellectual Developmental Disorder, Autosomal Dominant 23	Hypospadias	OMIM:615761
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Von Hippel-Lindau Syndrome	Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell carcinoma, Multiple renal c...	OMIM:193300
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
Bardet-Biedl Syndrome 1	Syndactyly, Abnormality of the kidney, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi...	OMIM:209900
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Toe clinodactyly, Clinodactyly of ...	ORPHA:217346
Short Stature-Micrognathia Syndrome	Small scrotum, Ventricular septal defect, Cryptorchidism, Cleft palate, High palate, Gastroesopha...	OMIM:617164
Distal Xq28 Microduplication Syndrome	Metatarsus adductus, Clinodactyly	ORPHA:293939
Chime Syndrome	Abnormality of the kidney, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi...	ORPHA:3474
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ileus, Constipation	ORPHA:52503
Acute Transverse Myelitis	Gastroparesis, Urinary incontinence, Paralytic ileus, Urinary retention, Constipation, Abnormal l...	ORPHA:139417
Meckel Syndrome, Type 4	Cleft palate, Renal cyst	OMIM:611134
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Short thumb, Nephroblastoma	OMIM:610832
Short Syndrome	Brachydactyly, Short palm	ORPHA:3163
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urin...	ORPHA:2995
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cryptorchidism, Feeding difficulties, Renal hypoplasia, Exocrine pancreatic insufficiency	OMIM:620005
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis, Gastrostomy tube feeding...	ORPHA:457284
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ...	OMIM:601358
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Hypospadias	OMIM:619759
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft palate, Micropenis, Vagin...	OMIM:106260
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cleft palate, High palate, Cys...	OMIM:220500
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Renal cyst, Poor suck, Cleft palate...	OMIM:614866
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Xerostomia, Renal hypoplasia, Bifid uvula, Bicornuate uterus, Dysphagia, Vesicour...	ORPHA:2363
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Protuberant abdomen, Cysti...	OMIM:608022
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries	OMIM:615363
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Short stature, Cryptorchidism, Micropenis, Mesomelia, Camptodactyly, Vesicoureteral r...	OMIM:616894
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly	OMIM:614520
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Clinodactyly, Radial deviation of finger	OMIM:609944
Transketolase Deficiency	Secondary amenorrhea, Increased level of ribose in urine, Renal cyst	ORPHA:488618
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Single transverse palmar crease, Urinary incontinence, Clinodactyly of the 5t...	OMIM:619522
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, Growth delay, Camptodact...	OMIM:601353
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ...	ORPHA:284339
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, Short stature, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Cryptorchidism...	ORPHA:500
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Diets-Jongmans Syndrome	Hypospadias, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Interrupted inferior vena...	OMIM:618846
Phosphoribosylaminoimidazole Carboxylase Deficiency	Polyhydramnios, Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophag...	OMIM:619859
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Ureteral duplication, Congenital hip dislocation, Toe syndactyly, Camptodactyl...	ORPHA:373
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Short phalanx of finger	OMIM:208060
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Short stature, Hypergonadotropic hypogonadism, Broad 1s...	ORPHA:79443
Curry-Jones Syndrome	Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3...	OMIM:601707
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Hepatocellular adenoma, Perineal hypospadias, Umbilical hernia, Mi...	ORPHA:3134
Weill-Marchesani Syndrome 1	Short stature, Proportionate short stature, Broad palm, Broad phalanges of the hand, Broad metaca...	OMIM:277600
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Clinodactyly of the 5th finger, Syndactyly, Broad palm	OMIM:618505
Osteogenesis Imperfecta	Intestinal obstruction, Hypercalciuria, Nephrolithiasis, Constipation, Dysphagia	ORPHA:666
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Uterus didelphys, Cleft palate, Mic...	OMIM:617925
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cryptorchidism, Postaxial hand polydactyly, Hydronephrosis, Micropenis	OMIM:235255
Weill-Marchesani Syndrome 2	Short metacarpal, Short stature, Proportionate short stature, Short metatarsal, Broad palm, Elbow...	OMIM:608328
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short stature, Multicystic kidney dyspla...	ORPHA:2308
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting	OMIM:300352
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte...	ORPHA:247798
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Single transverse palmar crease, Slender long bone, Camptodactyly, Clinodactyly, L...	OMIM:613385
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Short stature,...	ORPHA:97360
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of t...	ORPHA:722
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Abdominal pain, Hematuria, M...	ORPHA:538
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E...	OMIM:227650
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus	ORPHA:893
Chromosome 16Q22 Deletion Syndrome	Cryptorchidism, High palate, Hypospadias	OMIM:614541
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Hypoplastic scapulae, Short stature, Wormian bones, Aplastic...	OMIM:119600
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Postnatal growth retar...	ORPHA:487796
Orofaciodigital Syndrome Xiv	Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Cleft palate, Unilate...	OMIM:615948
Charge Syndrome	Anal stenosis, Renal agenesis, Hypogonadotropic hypogonadism, External genital hypoplasia, Crypto...	OMIM:214800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, High, narrow palate, Nasogastric tube feeding in infancy, Hypercalciuria, Ren...	ORPHA:369837
Combined Oxidative Phosphorylation Deficiency 7	Paralytic ileus, Dysphagia	OMIM:613559
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Opsismodysplasia	Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ...	OMIM:258480
Chromosome 9P Deletion Syndrome	Hypospadias, Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow pal...	OMIM:158170
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Aganglionic megacolon, Short-segment aganglionic megacolon, Cryptorchidism, Ileus, Long-segment a...	OMIM:609136
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Nablus Mask-Like Facial Syndrome	Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Camptodactyly, Clinoda...	OMIM:608156
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Sandal gap, Short stature, 2...	OMIM:251260
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Occipital Horn Syndrome	Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Aplastic clavic...	ORPHA:198
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Proportionate shortening of all digits, Tapered finger, Small hand, Hypertrophy of t...	ORPHA:280633
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, High, narrow palate, Cleft palate, Glossoptosis, Atrial septal defect, Peripheral pu...	ORPHA:436003
Classical Ehlers-Danlos Syndrome	Uterine prolapse, Hiatus hernia, Rectal prolapse, Cervical insufficiency, Mitral valve prolapse, ...	ORPHA:287
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1974
Seckel Syndrome 5	Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy	OMIM:613823
Radio-Tartaglia Syndrome	Brachydactyly, Tapered finger	OMIM:619312
Johanson-Blizzard Syndrome	Colonic diverticula, Hypospadias, Urethrovaginal fistula, Septate vagina, Malabsorption, Cryptorc...	OMIM:243800
Chops Syndrome	Short stature, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Cervical C2/C3 vertebral ...	OMIM:616368
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Periventricular Nodular Heterotopia 9	Prominent metopic ridge, Single transverse palmar crease, Tapered finger, Clinodactyly of the 5th...	OMIM:618918
Acrocallosal Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Duplication of thumb phalanx, Tapered finger, Bif...	OMIM:200990
Oculoauriculovertebral Spectrum With Radial Defects	Distal urethral duplication, Renal hypoplasia/aplasia, Cleft palate, Ectopic anus, Vesicoureteral...	ORPHA:2549
X Small Rings	Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,...	ORPHA:96201
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Hematochezia, Gas...	ORPHA:263665
Lipodystrophy, Congenital Generalized, Type 4	Pyloric stenosis, Ileus, Feeding difficulties, Constipation, Dysphagia	OMIM:613327
Alg9-Cdg	Hypoplasia of the bladder, Prominent metopic ridge, Ulnar deviation of the hand, Rhizomelia, Uret...	ORPHA:79328
Cardiofaciocutaneous Syndrome	Short stature, Abnormal morphology of ulna, Cryptorchidism, Genu valgum, Deep palmar crease, Palm...	ORPHA:1340
Monosomy 13Q14	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly	ORPHA:1587
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Hypospadias, Intestinal polyp, Lactose intolerance	ORPHA:457485
Limb Body Wall Complex	Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, A...	ORPHA:2369
Meier-Gorlin Syndrome 7	Urethral stricture, Atrial septal defect, Anal stenosis, Hypospadias, Ventricular septal defect, ...	OMIM:617063
Bohring-Opitz Syndrome	Joint dislocation, Syndactyly, Prominent metopic ridge, Overlapping toe, Ulnar deviation of the w...	OMIM:605039
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proxim...	ORPHA:96334
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Reye syndrome-like episodes, Lacticaciduria, Dysphagia, Feeding difficulties, ...	ORPHA:26791
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Poor suck, Female infertility	OMIM:619518
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, High palate, Hypospadias	ORPHA:98791
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Episodic abdo...	ORPHA:157
Joubert Syndrome 14	Cleft palate, Renal cyst	OMIM:614424
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Short metatar...	OMIM:123450
Mody	Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Exocrine ...	ORPHA:552
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Clinodactyly, Short distal phalanx of finger	OMIM:615866
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Single transverse palmar crease, Cryptorchidism, Urachus fist...	OMIM:612541
Multiple Pterygium Syndrome, Escobar Variant	Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dislocated radi...	OMIM:265000
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder...	ORPHA:1521
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Short Syndrome	Enlarged epiphyses, Clinodactyly, Slender long bone, Radial deviation of finger	OMIM:269880
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Noonan Syndrome 14	Scapular winging, Deep palmar crease, Cubitus valgus, Clinodactyly, Limited elbow extension	OMIM:619745
19P13.12 Microdeletion Syndrome	Hypospadias, Ventricular septal defect, Precocious puberty, Cryptorchidism, Cleft palate, Atrial ...	ORPHA:254346
Hereditary Cryohydrocytosis With Reduced Stomatin	Postnatal growth retardation, Short stature, Brachydactyly	ORPHA:168577
Tuberous Sclerosis 1	Precocious puberty, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Broad 2nd toe, Palmoplantar hyp...	OMIM:280000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria, Umbilical hernia, Hypertrophic cardiomy...	OMIM:614052
Combined Oxidative Phosphorylation Defect Type 7	Paralytic ileus, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia	ORPHA:254930
Sclerosteosis 1	Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C...	OMIM:269500
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Vaginal neoplasm, Cleft palate, Colon cancer,...	ORPHA:1052
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Abnormal renal morphology, Vaginal atresia, Fused labia minora	OMIM:207410
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Short stature, Cryptorchidism, Micropenis, Hydronephrosis	ORPHA:364028
Squalene Synthase Deficiency	Bilateral cryptorchidism, Bicuspid aortic valve, Hypospadias	OMIM:618156
Leprechaunism	Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Rectal prolap...	ORPHA:508
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Pyloric stenosis, Cleft palate, Feeding difficulties, Gastroesophag...	ORPHA:261197
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus...	ORPHA:163956
Alg12-Cdg	Hypospadias, Intestinal malrotation, Polyhydramnios, Edema, Cryptorchidism, Patent ductus arterio...	ORPHA:79324
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kidney, Aplasia of th...	OMIM:617088
Constricting Bands, Congenital	Syndactyly, Hand polydactyly, Talipes equinovarus	OMIM:217100
Hamamy Syndrome	Long toe, Syndactyly, Down-sloping shoulders, Craniosynostosis, Tapered finger, Long fingers, Nec...	OMIM:611174
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypospadias, Ventricular septal defect, Polyhydramnios, Large placenta, Galactos...	OMIM:222470
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Intestinal malrotation, Pancreatic cysts, Stage 5 chronic kid...	OMIM:208540
Mitochondrial Trifunctional Protein Deficiency	Equinus calcaneus	ORPHA:746
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, Feeding difficulties, High palate, Gast...	OMIM:616975
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Short stature, Rhizomelic arm shortening, Brachydactyly	ORPHA:508542
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Cryptorchidism, Atrial septal defect, Hypospadias	OMIM:618109
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Ectopic kidney, Absent radius, Preaxial hand polydactyly, Hypopl...	ORPHA:233
Mitochondrial Complex I Deficiency, Nuclear Type 37	High palate, Hypospadias, Stroke-like episode	OMIM:619272
Mitochondrial Dna Depletion Syndrome 19	Hydrocele testis, Hypospadias	OMIM:618972
Stevens-Johnson Syndrome	Acute hepatic failure, Dyspareunia, Renal insufficiency, Nausea and vomiting, Gastrointestinal he...	ORPHA:36426
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Poly...	OMIM:109400
7Q11.23 Microduplication Syndrome	Short stature, Single transverse palmar crease, Unilateral renal agenesis, Hypospadias, Craniosyn...	ORPHA:96121
Malakoplakia	Proteinuria, Dysuria, Orchitis, Urinary bladder inflammation, Urinary urgency, Hematuria, Neoplas...	ORPHA:556
19P13.13 Microdeletion Syndrome	Long fingers, Clinodactyly, Sandal gap	ORPHA:357001
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Bifid uvula	OMIM:181270
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Pterygium, Lon...	OMIM:256520
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, Renal tubular e...	ORPHA:228308
Adnp Syndrome	Recurrent urinary tract infections, Broad hallux, Single transverse palmar crease, Sandal gap, Sh...	ORPHA:404448
Cdags Syndrome	Hypospadias, Rectourethral fistula, Cleft palate, Rectovaginal fistula, Anal atresia	OMIM:603116
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fourth finger distal ...	OMIM:618050
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Cryptorchidism, High palate, Hypospadias, Renal dysplasia	OMIM:300004
3Q29 Microdeletion Syndrome	Hypospadias, Patent ductus arteriosus, Horseshoe kidney, High palate, Gastroesophageal reflux, Su...	ORPHA:65286
Chand Syndrome	Hydroureter, Bifid tongue, Imperforate hymen, Cleft palate	ORPHA:1401
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Cleft soft palate, Precocious puberty, High, narrow palate, Cleft palate, Feeding difficulties, U...	OMIM:619950
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Hypospadias, Cryptorchidism, High palate, Gastroesophageal reflux, Dysphagia	OMIM:300260
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Tapered finger, Narrow palm, Growth delay, Hand clenching, Ureteropelvic junc...	OMIM:616973
Beckwith-Wiedemann Syndrome	Overgrowth of external genitalia, Hepatoblastoma, Cryptorchidism, Nephrolithiasis, Renal cortical...	OMIM:130650
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H...	OMIM:241080
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Aplasia/Hypoplasia of t...	ORPHA:564
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot	OMIM:616038
Fraser Syndrome 3	Short toe, Stillbirth, Cutaneous syndactyly	OMIM:617667
Prader-Willi Syndrome Due To Translocation	Overlapping toe, Short stature, Hypogonadotropic hypogonadism, Abnormality of the kidney, Small h...	ORPHA:177907
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Bilateral cleft lip and palate, Mitral valve prolapse, High palate, Macroorchidism, ...	OMIM:618874
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Intestinal malrotation, C...	OMIM:249000
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Meningocele, Anenc...	ORPHA:1908
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car...	OMIM:613254
Mandibuloacral Dysplasia With Type B Lipodystrophy	Osteolytic defects of the distal phalanges of the hand, Short clavicles, Wormian bones, Short pha...	OMIM:608612
Myhre Syndrome	Vertebral fusion, Overlapping toe, Short stature, Cryptorchidism, Short toe, 2-3 toe syndactyly, ...	OMIM:139210
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Renal neoplasm, Neoplasm of the colon, Malabsorption, Hepatocellular...	ORPHA:440437
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Epididymitis, Vaginal hydro...	ORPHA:2035
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Short stature, Deep palmar crease, Clinodactyly of the 5...	OMIM:115150
Nizon-Isidor Syndrome	High, narrow palate, Gastroesophageal reflux, Hypospadias, Upper eyelid edema	OMIM:618872
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Rocker bottom foot, Camptodactyly of finger, Elbow flexion contracture, Joint cont...	OMIM:602782
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb	OMIM:619239
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Intestinal malrotation, Female infertility	ORPHA:244
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Chronic diarrhea	OMIM:600802
Hydrolethalus Syndrome 1	Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hal...	OMIM:236680
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Overlapping toe, Arachnodactyly, Single transverse palmar crease, Postnatal growth retardation, C...	ORPHA:83617
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Finger syndactyly, Hypoplasia of penis, Severe short stature, Short st...	ORPHA:3107
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Bilateral cryptorchidism, Hypoplastic iliac wing, Prominent fing...	OMIM:180849
White-Sutton Syndrome	Duplicated collecting system, Short stature, Wormian bones, Intrauterine growth retardation, Broa...	OMIM:616364
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, Syndactyly, Hyp...	OMIM:268300
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Renal hypoplasia, Duodenal atresia	OMIM:270100
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Long thumb, Clinodactyly	OMIM:300895
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Cryptorchidism, Patell...	OMIM:606170
Arboleda-Tham Syndrome	Brachydactyly, Recurrent urinary tract infections, Sandal gap, Deviation of the hallux, Short hal...	OMIM:616268
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Single transverse palmar crease, Craniosynostosis, Clinodactyly of the 5th finger, Cl...	OMIM:614114
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phal...	ORPHA:364577
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Prominent metopic ridge, Craniosynostosis, Cryptorchidism, Hip dysplasia, Vesicoureteral reflux, ...	ORPHA:453499
Cree Mental Retardation Syndrome	Bifid scrotum, Cryptorchidism, Hypospadias, Cleft soft palate	OMIM:606851
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, ...	OMIM:618820
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic...	OMIM:618612
Microphthalmia, Syndromic 6	Small scrotum, Female hypogonadism, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, ...	OMIM:607932
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Episodic abdominal pain, Primary amenorrhea, Hypoplasia of the uterus	ORPHA:785
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Hydronephrosis	ORPHA:1926
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Hepatocellular carcinoma, Ovari...	ORPHA:144
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Hydronephrosis	OMIM:618060
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Feeding difficulties in infancy, Cry...	ORPHA:1606
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias	ORPHA:782
Toriello-Carey Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Intrauterine growth retardation, Cli...	ORPHA:3338
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly, Sh...	ORPHA:2211
Kbg Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly	ORPHA:2332
Trisomy 10P	Abnormality of the kidney, Dysphagia, High palate, Gastroesophageal reflux, Multiple renal cysts,...	ORPHA:171929
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Delayed closure of the anterior fontanelle, Short toe, Recurrent mandibular subluxations, Limb un...	OMIM:225410
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Rectal prolapse, Renal hypoplasia, Feeding difficulties, Gast...	OMIM:617157
Kbg Syndrome	Syndactyly, Vertebral fusion, Single transverse palmar crease, Cutaneous syndactyly, Radial devia...	OMIM:148050
Catel-Manzke Syndrome	Joint dislocation, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease,...	OMIM:616145
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Aganglionic megacolon, Abnormality of the ureter, Nephrolithiasis, Ren...	ORPHA:798
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Bicuspid aortic valve, Mitral stenosis, Mitral atresia...	ORPHA:1596
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	High palate, Hypospadias	ORPHA:363686
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Anomaly of lower limb diaphyses, Recurrent urinary tract ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Anomaly of lower limb diaphyses, Recurrent urinary tract ...	ORPHA:363958
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypospadias, Tapered finger, Short thumb, Cryptorchidism, Chordee, Clinodactyly of the 5th finger...	ORPHA:477993
Micro Syndrome	Hypoplasia of penis, Short stature, Cryptorchidism, Abnormal localization of kidney, Delayed pube...	ORPHA:2510
Oculodentodigital Dysplasia	4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle phalanx...	OMIM:164200
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Broad hallux, Single transverse palmar crease, Brachydactyly	OMIM:617062
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Rhizomelia, Short stature, Mi...	ORPHA:709
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot...	OMIM:227330
Alveolar Echinococcosis	Abdominal pain, Pancreatic cysts, Renal cyst, Vomiting, Decreased liver function, Abnormal bladde...	ORPHA:284
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Feeding difficulties, Gastroesophageal reflux, High palate, Polycystic...	OMIM:606232
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cleft palate, Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia	OMIM:616546
Tetrasomy 9P	Renal dysplasia, Joint dislocation, Recurrent urinary tract infections, Hypoplastic scapulae, Cry...	ORPHA:3310
Arima Syndrome	Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Renal cortico...	OMIM:243910
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Clinodactyly, Camptodactyly	OMIM:617360
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Dermal sinus tract, Hydromyelia,...	OMIM:600145
Histiocytoid Cardiomyopathy	Cleft palate, Vomiting, Renal cyst, Polycystic ovaries	ORPHA:137675
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Bilateral talipes equinovarus, 2-3 toe syndactyly, Equinus calcaneus	ORPHA:522077
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Absent palmar crease, Camptodactyly	OMIM:614230
Prader-Willi Syndrome	Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d...	OMIM:176270
Down Syndrome	Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Short palm, Shor...	OMIM:190685
Diamond-Blackfan Anemia 1	Colon cancer, High palate, Renal hypoplasia, Cleft palate	OMIM:105650
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly	ORPHA:306542
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Charge Syndrome	Short stature, Hypogonadotropic hypogonadism, Postnatal growth retardation, Cryptorchidism, Abnor...	ORPHA:138
Cardiospondylocarpofacial Syndrome	Short stature, Tarsal synostosis, Vesicoureteral reflux, Horseshoe kidney, Cone-shaped epiphysis,...	OMIM:157800
Kid Syndrome	Coxa valga, Equinus calcaneus, Postnatal growth retardation, Patellar hypoplasia, Knee flexion co...	ORPHA:477
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Female infertility, Renal hypoplasia/aplasia, High urinary gonad...	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, Female infertility, Renal hypoplasia/aplasia, High urinary gonad...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Female infertility, Renal hypoplasia/aplasia, High urinary gonad...	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, Female infertility, Renal hypoplasia/aplasia, High urinary gonad...	ORPHA:881
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Poliomyelitis	Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea	ORPHA:2912
Sacral Agenesis With Vertebral Anomalies	Anal atresia, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Single transverse palmar crease, Dilatation of renal calices, Short palm, Prominent fingertip pad...	ORPHA:466950
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Complete atrioventricular canal defect, S...	OMIM:151100
Woodhouse-Sakati Syndrome	Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Abnormal spermat...	ORPHA:3464
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Vesicoureteral reflux, Syndactyly, Broad hallux, Short stature, Hypospadias, Abnormality of the k...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Vesicoureteral reflux, Syndactyly, Broad hallux, Short stature, Hypospadias, Abnormality of the k...	ORPHA:353277
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Cleft palate, Hypopl...	OMIM:134780
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Cleft soft palate, Cryptorchidism, Patent ductus arteriosus, Male pseudohermaphrodit...	ORPHA:2282
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostosis, Craniosynostosis, Cryp...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostosis, Craniosynostosis, Cryp...	ORPHA:352665
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Cryptorchidism, Abnormal cardiac septum morphology, Hypospadias	OMIM:613026
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst, Hiatus hernia	OMIM:610199
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si...	OMIM:610644
Meester-Loeys Syndrome	Joint dislocation, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Brachydactyly	OMIM:300989
Orofaciodigital Syndrome I	Syndactyly, Short stature, Proteinuria, Short 2nd toe, Polydactyly, Radial deviation of finger, P...	OMIM:311200
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, Colon...	ORPHA:454840
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst, Feeding difficulties	OMIM:617260
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Pos...	ORPHA:93325
Li-Fraumeni Syndrome	Renal neoplasm, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the rectum, Colon cancer, Pros...	ORPHA:524
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardio...	ORPHA:66634
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Loeys-Dietz Syndrome 2	Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Syndactyly, Arachnodactyly, Arteri...	OMIM:610168
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Anal stenosis, Vaginal atresia	OMIM:248450
Netherton Syndrome	Aminoaciduria, Short stature, Hydronephrosis, Ectopic kidney	ORPHA:634
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypercalciuria	ORPHA:2239
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Kaposiform Lymphangiomatosis	Metrorrhagia, Multiple renal cysts, Enlarged kidney, Pancreatic cysts	ORPHA:464329
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Pyloric stenosis, Hypoplastic labia majora, Hypoplasia of the uterus, ...	OMIM:618419
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, Cryptorchidism, High, ...	OMIM:309800
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Perineal hypospadias, Umbilical hernia, Micropenis	OMIM:312830
Gabriele-De Vries Syndrome	Hallux valgus, Sydney crease, Sandal gap, Craniosynostosis, Cryptorchidism, Patellar subluxation,...	ORPHA:506358
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma	OMIM:612591
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o...	OMIM:151050
Joubert Syndrome 1	Macroglossia, Nephropathy, Renal cyst, Protruding tongue	OMIM:213300
Caroli Disease	Cholangiocarcinoma, Anorexia, Abdominal pain, Esophageal varix, Abdominal rigidity, Vomiting, Pol...	ORPHA:53035
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypospadias, Renal tubular acidosis, Gastroesophageal reflux, Dysphagia, Hypertrophic cardiomyopathy	OMIM:615471
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Clinodactyly, Camptodactyly	ORPHA:228426
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Metap...	ORPHA:221016
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Joint dislocation, Crossed fused renal ectopia, Congenital hi...	OMIM:147920
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypospadias, Hypoplastic female external genitalia	OMIM:177980
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Short stature, Hyp...	ORPHA:955
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Dilated cardiomyopathy, Hypospadias, Cleft palate	OMIM:603736
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Abnormal preputium morphology, Abnormality of the uret...	ORPHA:2907
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney...	OMIM:267010
Fanconi Anemia, Complementation Group P	Short thumb, Hypoplasia of the radius, Micrognathia, Absent thumb	OMIM:613951
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Craniosynostosis, Preaxial p...	OMIM:614976
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Broad hallux, Short stature, Hypospadias, Avascular necrosis ...	ORPHA:353281
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
C Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the anus, ...	ORPHA:1308
Wiedemann-Steiner Syndrome	Rhizomelia, Abnormality of the hand, Tapered finger, Abnormality of the elbow, Clinodactyly of th...	ORPHA:319182
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Hypospadias, Cryptorchidism, Short greater ...	OMIM:312870
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Short stature, Hypospadias, Tapered finger, Craniosynostosis, Cryptorchidism, Sm...	OMIM:309590
Noonan Syndrome 1	Male infertility, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Synov...	OMIM:163950
Frank-Ter Haar Syndrome	Bowing of the long bones, Delayed cranial suture closure, Metatarsus adductus, Flared metaphysis,...	OMIM:249420
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent duc...	OMIM:206900
Mpdu1-Cdg	Feeding difficulties, Renal cortical cysts, Nasogastric tube feeding	ORPHA:79323
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Ectopic kidney, Horseshoe kidney, Renal cyst, Anteriorly placed...	OMIM:117650
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Dextrocardia, Polyhydramnios, Large placenta, Patent ductus ar...	ORPHA:1662
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Abdominal pain, Pancreatic cysts, Papillary cystadenoma of ...	ORPHA:892
Tbck-Related Intellectual Disability Syndrome	Broad toe, Prominent metopic ridge, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Clinodactyly	ORPHA:488632
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Hypospadias, Glandular hypospadias, Narrow palate, Hypoplastic labia majora, High palate, Shawl s...	OMIM:604314
Ayme-Gripp Syndrome	Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closure, Brachydactyly	OMIM:601088
Osteopathia Striata With Cranial Sclerosis	Arachnodactyly, Delayed closure of the anterior fontanelle, Osteopathia striata, Fibular hypoplas...	OMIM:300373
Microsporidiosis	Glossitis, Anorexia, Abdominal pain, Peritonitis, Urethritis, Chronic diarrhea, Abnormal endometr...	ORPHA:2552
Keutel Syndrome	Short hallux, Premature fusion of phalangeal epiphyses, Short thumb, Shortening of all distal pha...	OMIM:245150
8Q24.3 Microdeletion Syndrome	Long toe, Microretrognathia, Pes planus, Congenital hip dislocation, Short femur, Single transver...	ORPHA:508488
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Renal insufficiency, Feeding difficulties in infancy, Neoplasm of t...	ORPHA:1454
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Recurrent urinary tract infections, Renal insuff...	ORPHA:731
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Narrow palate, Hypoplastic labia majora, Anteriorly placed anus, High...	OMIM:123790
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Bilateral camptodactyly, Elbow flexion contracture, Small hand, ...	OMIM:619777
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Clinodactyly of the 5th finger, Intrauterine growth retardation, Bra...	OMIM:147791
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypospadias, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Hypertrophic...	ORPHA:17
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly	ORPHA:1519
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Fused cervical vertebrae, Clinodactyly, Limited pronati...	ORPHA:1724
Timothy Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Cutaneous syndactyly	OMIM:601005
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Micropenis, Hypospadias, Hydrops fetalis	OMIM:613673
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, Patellar hypopla...	ORPHA:221008
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Pelvic kidney, Short palm, Dilatation of renal calices, Brachyda...	ORPHA:466943
Diamond-Blackfan Anemia	Radial artery aplasia, Renal agenesis, Hypospadias, Nonimmune hydrops fetalis, Ventricular septal...	ORPHA:124
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Macroglossia, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Renal dysplasia, Congenital hip dislocation, Overlapping toe, Short stature, Posta...	ORPHA:480880
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb	OMIM:617244
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Feeding difficulties	OMIM:609180
White-Kernohan Syndrome	Hydroureter, Horseshoe kidney, Hip dysplasia, Metopic synostosis, Hydronephrosis	OMIM:619426
Mismatch Repair Cancer Syndrome 3	Neoplasm of the rectum, Colon cancer	OMIM:619097
Noonan Syndrome	Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Radioulnar synostosis, Clinodactyly...	ORPHA:648
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatoblastoma, Feeding difficulties in infancy, Cryptorchidism, Nephrolith...	ORPHA:116
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Unilateral renal agen...	ORPHA:268261
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Abnormal preputium morphology, Glandular hypospadias, Cleft soft palate, Oligohydramnios	ORPHA:293725
Fanconi Anemia, Complementation Group Q	Absent thumb	OMIM:615272
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Growth delay, Hydronephrosis	ORPHA:488613
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Hypospadias, Ventricular septal defect, Megacystis, Abnormal cardiac septum...	ORPHA:209905
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Hydronephrosis, Cryptorchidism	OMIM:620327
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Aplasia/Hypoplasia of the phalanges of the 2nd...	ORPHA:79500
Cranioectodermal Dysplasia 2	Syndactyly, Renal insufficiency, Rhizomelia, Short stature, Craniosynostosis, Postaxial hand poly...	OMIM:613610
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Postnatal growth retardation, Intrauterine growth retardation, Duplicated collecting system, Hydr...	OMIM:617093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Hypospadias, Submucous cleft hard palate, Aortic root aneurysm, Chordee, Atrial septal defect	OMIM:618891
Mgat2-Cdg	Brachydactyly	ORPHA:79329
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd...	ORPHA:79403
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Narrow palm, Slender...	ORPHA:193
Ring Chromosome 13 Syndrome	Bifid scrotum, Anal atresia, Hypospadias, High palate, Ambiguous genitalia, Abnormal renal physio...	ORPHA:96176
Congenital Fibrosis Of Extraocular Muscles	Hand oligodactyly	ORPHA:45358
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Prominent metopic ridge, Rhizomelia, Craniosynostosis, Phalangeal cone-shaped epiphyses, Postaxia...	OMIM:266920
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Arachnodactyly, Cryptorchidism, Nephrotic syndrome, Talipes equinovarus, Hydro...	OMIM:601776
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus...	ORPHA:2215
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Gastro...	ORPHA:436252
Cystinosis, Nephropathic	Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal ...	OMIM:219800
Atelis Syndrome 2	Clinodactyly, Single transverse palmar crease	OMIM:620185
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Clinodactyly	OMIM:618164
Monosomy 22Q13.3	Renal dysplasia, Vesicoureteral reflux, Large hands, Clinodactyly of the 5th finger, Recurrent py...	ORPHA:48652
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Caroli Syndrome	Cholangiocarcinoma, Abnormality of the kidney, Abdominal pain, Hematemesis, Esophageal varix, Abd...	ORPHA:480520
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Feeding difficulties in infancy,...	ORPHA:534
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Hydronephrosis	OMIM:619179
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Wrist swelling, P...	OMIM:309000
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, V...	ORPHA:2152
3M Syndrome	Hypospadias, Abnormal cerebral vascular morphology	ORPHA:2616
Pgm3-Cdg	Membranoproliferative glomerulonephritis, Short stature, Brachydactyly	ORPHA:443811
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Progeroid Short Stature With Pigmented Nevi	Bicuspid aortic valve, Hypospadias, Chordee, Aortic valve stenosis, Esophageal ulceration	OMIM:176690
Meier-Gorlin Syndrome 3	Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Gastroesophageal reflux, Mi...	OMIM:613803
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic labia minora, High, nar...	ORPHA:2554
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Wiedemann-Rautenstrauch Syndrome	Wide penis, Vesicoureteral reflux, Dilatation of renal calices, Long toe, Short stature, Hypogona...	ORPHA:3455
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Barber-Say Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Brachydactyly	OMIM:209885
Rapp-Hodgkin Syndrome	Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma	OMIM:129400
Craniosynostosis And Dental Anomalies	Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty...	OMIM:614188
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral valve, High palate, ...	OMIM:620083
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma...	ORPHA:449395
Chromosome 1P36 Deletion Syndrome, Proximal	Clinodactyly, Camptodactyly	OMIM:619343
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneou...	OMIM:620029
Coffin-Siris Syndrome	Hypospadias, Ventricular septal defect, Hepatoblastoma, Cryptorchidism, Patent ductus arteriosus,...	ORPHA:1465
Marfan Syndrome	Arachnodactyly, Protrusio acetabuli, Genu recurvatum, Equinus calcaneus, Metatarsus adductus, Pre...	OMIM:154700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Short stature, Hypospadias, Small hand, Fibular hypoplasia, Horseshoe kidney, Hypo...	ORPHA:444077
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Immunodeficiency 40	Focal active colitis, Rectal fistula	OMIM:616433
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	1-2 toe syndactyly, Broad hallux, Tapered finger, Small hand, Short foot, Hip dysplasia, Camptoda...	OMIM:301044
Pearson Syndrome	Renal insufficiency, Median cleft lip and palate, Proteinuria, Chronic diarrhea, Lacticaciduria, ...	ORPHA:699
Bloom Syndrome	Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly	OMIM:210900
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst, Dysphagia	OMIM:615636
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Mitral valve prolapse, Umbilical he...	OMIM:611962
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Cleft palate, Feeding difficulties, Glossoptosis, Short hard palate	ORPHA:1393
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, High palate, Uri...	OMIM:300661
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr...	ORPHA:261537
Branchioskeletogenital Syndrome	Ureteral stenosis, Unilateral cleft palate, Absent external genitalia, Submucous cleft hard palat...	ORPHA:1299
Adams-Oliver Syndrome 1	Toe syndactyly, Talipes equinovarus, Brachydactyly	OMIM:100300
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Bloom Syndrome	Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Poor appet...	ORPHA:125
Neurooculorenal Syndrome	Short 1st metacarpal, Talipes equinovarus, Short hallux, Micrognathia	OMIM:620305
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Hypospadias, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Dilatation of the ventric...	ORPHA:459070
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypospadias	OMIM:619718
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Short stature, Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Ge...	ORPHA:363700
Microphthalmia, Syndromic 2	Hypospadias, Ventricular septal defect, Septate vagina, Dextrocardia, Cryptorchidism, Patent duct...	OMIM:300166
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Short stature, Postnatal growth retardation, Long fingers, Talipes equinovarus, Slender...	OMIM:613355
Witteveen-Kolk Syndrome	Proximal placement of thumb, Male urethral meatus stenosis, Microphallus, Short palm, Clinodactyl...	OMIM:613406
Liver Disease, Severe Congenital	Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Left atrial enlargement, Vent...	OMIM:619991
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Polyhydramnios, Patent ductus arteriosus, Submucous cleft hard...	OMIM:275210
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, Finger syndactyly, Talipes equinovarus, 2-3 toe syndactyly	OMIM:620025
Cowden Syndrome	Abnormal penis morphology, Short stature, Abnormality of the kidney, Renal cell carcinoma, Palmop...	ORPHA:201
Hatipoglu Immunodeficiency Syndrome	Cryptorchidism, Hypospadias	OMIM:620331
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Palmoplantar hyperkeratosis, Bilateral single tr...	ORPHA:3253
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Congenital Disorder Of Glycosylation, Type It	Growth delay, Short stature, Hydronephrosis, Delayed puberty	OMIM:614921
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft...	OMIM:610188
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Pulmonary artery sling, Abnormality of the kidney, Ventricular septal...	OMIM:235730
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig...	ORPHA:3063
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Hydronephrosis	ORPHA:1780
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma...	OMIM:612474
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal metacarpal morphology, Absent ...	ORPHA:284160
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation ...	OMIM:220111
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Broad thumb	ORPHA:87
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr...	ORPHA:261552
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Microphallus, Abnormal renal collecting s...	ORPHA:468631
Sotos Syndrome	Ureteral duplication, Vesicoureteral reflux, Hypospadias, Abnormality of the kidney, Cryptorchidi...	ORPHA:821
3Mc Syndrome 2	Hypospadias, Cryptorchidism, Cleft palate, Horseshoe kidney, High palate	OMIM:265050
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Gastrointestinal infarctions, Uterine rupture, Peripheral arteriovenous fist...	ORPHA:286
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Pelvic kidney, Hydronephrosis	OMIM:613001
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Macroglossia, Nephroblastoma, Bifid ureter, Enla...	ORPHA:500095
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing...	OMIM:211380
Holoprosencephaly	Hypoplasia of penis, Proteinuria, Cryptorchidism, Abnormality of the urinary system, Hand polydac...	ORPHA:2162
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft palate, Hypoplastic labia major...	OMIM:603457
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Anal atresia, Ectopic anus, Hypospadias, Cleft palate	ORPHA:85199
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Long fingers, Cutaneous syndactyly, Toe clinodactyly, Hydronephrosis	OMIM:620330
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hypospadias, Lacticaciduria, Concentric hypertrophic cardiomyopat...	OMIM:252010
Chilton-Okur-Chung Neurodevelopmental Syndrome	Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Polyhydramnios, Cry...	OMIM:619841
Alzahrani-Kuwahara Syndrome	Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Ventricular septal defect, Persi...	OMIM:619268
Neurocardiofaciodigital Syndrome	Syndactyly, Polydactyly	OMIM:619869
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Syndactyly, Renal insufficiency, Short stature, Postaxial polydactyly, Broad first me...	OMIM:619534
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
Vici Syndrome	Left ventricular hypertrophy, Dilated cardiomyopathy, Cleft palate, Cardiomyopathy, High palate, ...	OMIM:242840
6Q Terminal Deletion Syndrome	Hallux valgus, Clinodactyly, Prominent metopic ridge	ORPHA:75857
Waardenburg Syndrome, Type 1	Aplasia of the vagina	OMIM:193500
Turnpenny-Fry Syndrome	Overlapping toe, Tapered finger, Long fingers, Small hand, Prominent interphalangeal joints, Shor...	OMIM:618371
Ogden Syndrome	Global glomerulosclerosis, Cryptorchidism, Diarrhea, Narrow palate, Feeding difficulties, Hydroce...	OMIM:300855
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Renal cyst, ...	OMIM:113620
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Mult...	ORPHA:90349
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Bilateral cryptorchidism, Hydrometrocolpos, Vomiting, Gastroesophageal reflux,...	OMIM:150230
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Abnormal external genitalia, Hypospadias, Bicuspid aortic valve, Ec...	OMIM:607872
Fanconi Anemia, Complementation Group E	Absent radius, Short thumb, Complete duplication of thumb phalanx, Absent thumb	OMIM:600901
Dyskeratosis Congenita	Esophageal stenosis, Malabsorption, Anorectal anomaly, Urethral stenosis, Tracheoesophageal fistu...	ORPHA:1775
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Incontinentia Pigmenti	Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f...	ORPHA:464
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Palpebral edema, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Hi...	OMIM:619475
Dubowitz Syndrome	Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High pala...	OMIM:223370
Dyskeratosis Congenita, X-Linked	Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral stenosis, Horseshoe kidney,...	OMIM:305000
Proteus Syndrome	Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Renal cyst, Ovarian neoplasm, Macro...	ORPHA:744
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Feeding difficulties in infancy, Renal cortical cysts	OMIM:618548
Hypermobile Ehlers-Danlos Syndrome	Nausea and vomiting, Abnormality of the menstrual cycle, Malabsorption, Gastrointestinal dysmotil...	ORPHA:285
Carney Complex	Ovarian dermoid cyst, Sertoli cell neoplasm, Neoplasm of the stomach, Testicular neoplasm, Hepato...	ORPHA:1359
Pallister-Killian Syndrome	Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, Fe...	OMIM:601803
Coffin-Lowry Syndrome	Uterine prolapse, Rectal prolapse, High palate, Narrow palate	OMIM:303600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Um...	ORPHA:2990
Esophageal Atresia	Clinodactyly	ORPHA:1199
Monosomy 9P	Hypospadias, Cryptorchidism, Cleft palate, High palate, Ambiguous genitalia, Ureteropelvic juncti...	ORPHA:261112
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Urachal cyst, Rectal abscess	OMIM:608203
Dpagt1-Cdg	Clinodactyly, Arachnodactyly, Camptodactyly	ORPHA:86309
Monosomy 22	Clinodactyly of the 5th finger, Finger syndactyly, Clubbing, Single transverse palmar crease	ORPHA:96123
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Short stature, Cryptorchidism, Nephrolithiasis, Hip dysplasia, Vesicoureteral reflux, Hydronephrosis	ORPHA:438213
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Enuresis, Short stature, Delayed puberty, Brachydactyly	ORPHA:293987
Coffin-Siris Syndrome 12	Hypospadias, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard p...	OMIM:619325
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse	OMIM:130050
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias	OMIM:615877
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Feeding difficulties	OMIM:617239
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Hypoplastic ili...	OMIM:264090
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	High palate, Bladder exstrophy, Hypospadias	OMIM:210730
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Short stature...	OMIM:301068
Viss Syndrome	Long toe, Recurrent joint dislocation, Arachnodactyly, Rocker bottom foot, Short stature, Hip dis...	OMIM:619472
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Ureterocele	OMIM:616734
Osteopetrosis With Renal Tubular Acidosis	Short stature, Proximal renal tubular acidosis, Nephrolithiasis, Renal tubular acidosis, Distal r...	ORPHA:2785
Ring Chromosome 7 Syndrome	Hypospadias, Situs inversus totalis, Cleft palate, Hydrocele testis, Hypogonadism, Median cleft p...	ORPHA:1449
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Clinodactyly, Broad hallux, Single transverse palmar crease	OMIM:620186
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Patent duct...	ORPHA:434179
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma, Micrognathia	ORPHA:1071
Granulomatous Disease, Chronic, X-Linked	Pleural effusion, Ascites, Rectal abscess	OMIM:306400
Congenital Alveolar Capillary Dysplasia	Hydronephrosis	ORPHA:210122
Fontaine Progeroid Syndrome	Syndactyly, Craniosynostosis, Deep palmar crease, Absent distal phalanges, Neonatal death, Corona...	OMIM:612289
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Hypospadias, Anal atresia	OMIM:180500
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Hyperphosphaturia, Stippled calcification of the shoulder, Abnormal calc...	ORPHA:51608
Loeys-Dietz Syndrome	High palate, Bifid uvula, Uterine rupture	ORPHA:60030
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Hyperkeratosis, Palmoplantar keratoderma, Short 4th m...	ORPHA:2908
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Short stature, Unilateral renal agenesis, Hydrocele testis,...	OMIM:188400
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Knobloch Syndrome 1	Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication	OMIM:267750
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Pmm2-Cdg	Proteinuria, Hypogonadotropic hypogonadism, Feeding difficulties, Nephrotic syndrome, Hyperplasti...	ORPHA:79318
Leukocyte Adhesion Deficiency, Type I	Rectal abscess	OMIM:116920
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess	OMIM:601495
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal foot morphology	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
Norrie Disease	Cryptorchidism, Erectile dysfunction, Uterine rupture	ORPHA:649
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Cleft palate, Vesicoureteral reflux...	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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