Gene: Wls MGI:1915401

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

wntless WNT ligand secretion mediator

Synonyms:

Gpr177, 5031439A09Rik

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 Wls 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 Wls (1 diseases)
Human diseases predicted to be associated with Wls (578 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Zaki Syndrome		Broad distal phalanx of finger, Toe syndactyly, Renal agenesis, Ectrodactyly, Micrognathia, Hypop...	OMIM:619648

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

Disease	Matching phenotypes	Source
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Lumbar hyperlordosis, Over...	OMIM:618167
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Digital Arthropathy-Brachydactyly, Familial	Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte...	OMIM:606835
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Broad hallux, Abnormal thumb morphology, Hydronephrosis, Bifid...	ORPHA:2669
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t...	ORPHA:488232
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Acrorenal Syndrome	Finger aplasia, Abnormal renal morphology	OMIM:102520
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short 5th finger, Short thumb, Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe	OMIM:176305
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Adactylia, Unilateral	Adactyly, Short thumb	OMIM:102650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Micro...	ORPHA:989
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,...	ORPHA:3104
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing...	ORPHA:1113
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ...	OMIM:614814
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydr...	OMIM:613390
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Arthrogryposis, Distal, Type 2B2	Hip dislocation, Sandal gap, Broad hallux, Short toe, Talipes equinovalgus, Clinodactyly, Overlap...	OMIM:618435
Fibrodysplasia Ossificans Progressiva	Abnormal vertebral morphology, Abnormality of the first metatarsal bone, Aplasia/Hypoplasia of th...	ORPHA:337
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum...	OMIM:276950
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Brachydactyly Type A4	Shortening of all middle phalanges of the toes, Short middle phalanx of the 2nd finger, Talipes e...	ORPHA:93394
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d...	ORPHA:93323
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal ...	OMIM:113000
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Aplasia/Hypoplasia ...	OMIM:600384
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Broad foot, Absent fifth metatarsal, Patellar dis...	OMIM:620662
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Vesi...	OMIM:619217
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Micrognathia	OMIM:172880
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Hypoglossia-Hypodactylia	Adactyly, Micrognathia, Split hand	OMIM:103300
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Myelome...	ORPHA:2437
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter, Deviation of finger	ORPHA:1450
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Hypospadias, S...	ORPHA:2438
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o...	ORPHA:2839
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Abnormality of the vertebral column, Type A brachydactyly, Rad...	OMIM:112910
Macdermot-Winter Syndrome	Hydronephrosis, Death in infancy, Camptodactyly of finger	OMIM:247990
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Lateral ventricle dilatation, Renal agenesis, Horseshoe kidney, Bowed forearm bones...	OMIM:602200
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p...	OMIM:615297
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydronephrosis, Short neck, Hydrocephalus	ORPHA:251046
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ...	ORPHA:429
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Short distal phalanx of the thumb, Bifid distal phalanx of the thumb, Short distal phalanx of hal...	OMIM:256200
Acheiropody	Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short toe, Cervical spinal canal stenosis, Wid...	OMIM:301900
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di...	OMIM:620663
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Anterior encephalocele, Amelia, Holoprosencephaly, Scoliosis, Short femur	OMIM:601357
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ...	ORPHA:1788
Camptodactyly Syndrome, Guadalajara Type 2	Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Cuboid-shaped vertebral bodies, Tali...	ORPHA:1326
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hydronephrosis, Hyp...	OMIM:602418
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to...	ORPHA:370010
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death...	OMIM:314390
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Orofaciodigital Syndrome Xv	Broad hallux, Agenesis of corpus callosum, Hydronephrosis, Duplication of phalanx of hallux, Post...	OMIM:617127
Mesomelia-Synostoses Syndrome	Synostosis of carpal bones, Abnormal tibia morphology, Micrognathia, Genu valgum, Abnormal metaca...	ORPHA:2496
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot	OMIM:190680
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda...	ORPHA:90650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ...	ORPHA:79106
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Uret...	OMIM:143400
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Hand-Foot-Genital Syndrome	Ulnar deviation of the 2nd finger, Chordee, Short hallux, Small thenar eminence, Hypospadias, Sho...	OMIM:140000
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact...	OMIM:308050
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes	OMIM:277740
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Hypospadias, Spina bifida	ORPHA:3176
Carpenter Syndrome 1	Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Micrognathia, Genu valg...	OMIM:201000
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Abnormality of the ankle, Osteoarthritis of the elbow, Short toe, Abnormality of t...	ORPHA:2619
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan...	OMIM:186500
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor...	ORPHA:93307
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Syndactyly, Fused ...	OMIM:607323
Chondrodysplasia With Joint Dislocations, Gpapp Type	Capitate-hamate fusion, Short toe, Knee dislocation, Genu valgum, Micrognathia, Limited elbow ext...	OMIM:614078
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ...	ORPHA:1106
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh...	ORPHA:93258
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Endove Syndrome, Limb-Brain Type	Toe syndactyly, Talar aplasia, Umbilical hernia, Recurrent urinary tract infections, Hydronephros...	OMIM:619218
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic...	OMIM:260660
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Diabetic Embryopathy	Spinal dysraphism, Micrognathia, Vertebral segmentation defect, Renal hypoplasia/aplasia, Hydrone...	ORPHA:1926
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Elbow dislocat...	ORPHA:3258
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Microcephaly-Albinism-Digital Anomalies Syndrome	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia	ORPHA:2513
Bardet-Biedl Syndrome 19	Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Renal insufficiency, Po...	OMIM:615996
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Holoprose...	OMIM:146510
Talonavicular Coalition	Abnormality of the ankle, Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangis...	OMIM:186750
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal...	OMIM:216340
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th fi...	OMIM:620141
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormal form of the v...	ORPHA:1834
Intellectual Developmental Disorder, Autosomal Recessive 79	Slender finger, Pes planus, Short hallux, Long fingers, Clinodactyly of the 5th finger	OMIM:620393
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Short hallux, Clinod...	ORPHA:2662
Maxillonasal Dysplasia	Short distal phalanx of finger, Patchy distortion of vertebrae, Vertebral clefting, Aplasia/Hypop...	ORPHA:1248
Pierpont Syndrome	Prominent fingertip pads, Short toe, Short finger, Deep plantar creases, Broad foot, Short neck, ...	OMIM:602342
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Hydronephrosis, Hallux valgus, Pes planu...	OMIM:620511
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia involving the...	ORPHA:2879
Tetrasomy 15Q26	Microretrognathia, Horseshoe kidney, Kyphoscoliosis, Arachnodactyly, Hydronephrosis, Hydrocephalu...	OMIM:614846
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Dislocation of the femoral head, Hydronephrosis, Scoliosis, Kyphosis,...	OMIM:619797
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Micrognathia, Metat...	ORPHA:3082
Pfeiffer Syndrome Type 3	Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Horseshoe kidney, Vesicoureteral refl...	ORPHA:93260
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Occipital encephaloc...	ORPHA:887
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Brachydactyly, Clinodactyly of the 5th finger	OMIM:604381
Cantu Syndrome	Platyspondyly, Erlenmeyer flask deformity of the femurs, Broad hallux, Umbilical hernia, Cuboid-s...	OMIM:239850
Image Syndrome	Hydronephrosis, Hypospadias, Micromelia, Metaphyseal dysplasia	ORPHA:85173
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Hand monodactyly, Split hand, Split foot	OMIM:183800
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Lateral ventricle dilatation, Micrognathia, Talipes equino...	OMIM:611209
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Abnormal form of the vertebral bodies, Short toe,...	ORPHA:1327
Temtamy Preaxial Brachydactyly Syndrome	Tibial deviation of the 2nd toe, Clinodactyly of the 2nd finger, Radial deviation of finger, Cuta...	ORPHA:363417
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Brachydactyly Type E	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br...	ORPHA:93387
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Elbow flexion contracture, Vesicoureteral reflux, Knee flexion contrac...	ORPHA:85285
Trisomy 20P	Finger syndactyly, Abnormality of the ureter, Micrognathia, Talipes, Short neck, Abnormality of t...	ORPHA:261318
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Progressive cervical v...	OMIM:135100
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Abn...	OMIM:300244
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Renal hyp...	ORPHA:959
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Hip dysplasia	ORPHA:195
8P23.1 Duplication Syndrome	Hydronephrosis, Toe syndactyly	ORPHA:251076
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Congenital Myopathy 19	Hydronephrosis, Renal atrophy, Micrognathia, Scoliosis	OMIM:618578
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Hemivertebrae, Unilateral brac...	OMIM:173800
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges	Short 5th finger, Complete duplication of thumb phalanx, Shortening of all distal phalanges of th...	OMIM:106995
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Short toe, Camptodactyly of finger, Short 4th metacarpal, Aplasia...	ORPHA:3201
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Encephalocele, Abnormality of the...	ORPHA:974
Ritscher-Schinzel Syndrome 1	Micrognathia, Missing ribs, Hydronephrosis, Hydrocephalus, Hemivertebrae, Hypospadias, Syndactyly	OMIM:220210
Melnick-Needles Syndrome	Anisospondyly, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand...	ORPHA:2484
Anauxetic Dysplasia 1	Platyspondyly, Atlantoaxial dislocation, Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphys...	OMIM:607095
ERI1-related disease	Platyspondyly, Slender metacarpals, Oligodactyly, Increased vertebral height, Micrognathia, Limit...	OMIM:608739
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Talipes equinovarus, Radioulnar syno...	OMIM:154400
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Pierpont Syndrome	Prominent fingertip pads, Short toe, Short finger, Abnormality of the plantar skin of foot, Exces...	ORPHA:487825
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Micr...	OMIM:600383
Kury-Isidor Syndrome	Finger syndactyly, Hydronephrosis, Talipes equinovarus, Short neck, Brachydactyly, Hip dysplasia,...	OMIM:619762
3C Syndrome	Hypospadias, Finger syndactyly, Abnormal hip bone morphology, Micrognathia, Death in infancy, Mis...	ORPHA:7
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
1Q21.1 Microdeletion Syndrome	Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Vesicoureteral reflux, Agenesis of c...	ORPHA:250989
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Microretrognathia, Preaxial hand polydactyly, Campt...	ORPHA:261344
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Umbilical hernia, Ureteral triplication, Hydronephrosis, Cubitus valg...	OMIM:104350
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Trisomy 17P	Urethral valve, Micrognathia, Talipes, Hydronephrosis, Short neck, Hydrocephalus, Urethral stenos...	ORPHA:261290
Czech Dysplasia	Platyspondyly, Short toe, Short femoral neck, Thoracic kyphosis, Intervertebral space narrowing, ...	OMIM:609162
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hypospadias, Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Micrognathia, Renal at...	OMIM:618659
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Short toe, Patellar hypoplasia, Hyperextensibility of the finger joints, Lumbar hyperlordosis, Pe...	ORPHA:3041
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Platyspondyly, Delayed epiphyseal ossification, Short toe, Hypoplastic iliac wing, Small epiphyse...	OMIM:611717
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Radioulnar synostosis, Brachydactyly, Coron...	ORPHA:921
Roifman Syndrome	Biconvex vertebral bodies, Short toe, Irregular femoral epiphysis, Hip contracture, Single transv...	OMIM:616651
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, Horseshoe kidney, Vesicoureter...	OMIM:609053
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Hydroneph...	OMIM:616897
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Micrognathia, Nephroblastoma, Arachnodactyly, H...	ORPHA:314588
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv...	OMIM:268310
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Neona...	OMIM:251230
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Renal agenesis, Ectrodactyly, Micrognathia, Hypop...	OMIM:619648
Diamond-Blackfan Anemia 11	Finger aplasia, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Radioulnar sy...	OMIM:614900
Mosaic Trisomy 9	Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Deep plantar creases, Micromelia...	ORPHA:99776
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Fanconi Anemia, Complementation Group R	Absent thumb, Radial dysplasia, Hydrocephalus, Scoliosis, Pelvic kidney	OMIM:617244
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Hallux varus,...	ORPHA:93259
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Marden-Walker Syndrome	Multicystic kidney dysplasia, Micrognathia, Agenesis of corpus callosum, Arachnodactyly, Talipes,...	ORPHA:2461
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Micrognathia, Hydronephrosis, Camptodactyly, Clinodactyly of the 5...	OMIM:179613
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Talipes equinovalgus, Overlapping fingers, Butterfly vertebrae, Vesic...	OMIM:301056
Roifman Syndrome	Epiphyseal dysplasia, Biconvex vertebral bodies, Short toe, Bilateral single transverse palmar cr...	ORPHA:353298
15Q Overgrowth Syndrome	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterove...	ORPHA:314585
Pde4D Haploinsufficiency Syndrome	Broad metacarpals, Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short ...	ORPHA:439822
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Spina bifida occulta	OMIM:618060
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou...	ORPHA:392
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Short 5th finger, Short 5th toe, Short 4th toe, Short 3rd toe, Short 2nd toe	OMIM:619060
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter, Death in infancy	OMIM:618240
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Pes cavus, Abnormal metacarpal ...	ORPHA:3224
Adams-Oliver Syndrome 6	Foot oligodactyly, Renal hypoplasia, Brachydactyly, Syndactyly	OMIM:616589
Vater/Vacterl Association	Abnormal vertebral morphology, Hypospadias, Occipital encephalocele, Short thumb, Renal agenesis,...	OMIM:192350
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Overlapping toe, Overlappi...	OMIM:618494
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis, Micrognathia, Hydrocephalus	OMIM:609757
Feingold Syndrome Type 1	Nephritis, Toe syndactyly, Short thumb, Renal dysplasia, Short middle phalanx of finger, Horsesho...	ORPHA:391641
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Short first metatarsal, Prominent interdigi...	OMIM:601957
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Schizophrenia 1	Renal agenesis, Short proximal phalanx of the 4th toe, Partially duplicated kidney, Ectopic kidne...	OMIM:181510
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Abnormality of the ureter, Micrognathia, Vesico...	ORPHA:1225
9Q21.13 Microdeletion Syndrome	Polydactyly, Talipes, Vertebral segmentation defect, Hydronephrosis, Hip dysplasia, Scoliosis	ORPHA:531151
Distal Duplication 6P	Renal hypoplasia, Abnormality of the urinary system, Micrognathia, Hydronephrosis, Short neck, Sa...	ORPHA:1745
Trisomy 8P	Short fifth metatarsal, Nephrocalcinosis, Short 1st metacarpal, Clinodactyly of the 2nd finger, C...	ORPHA:264450
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Bilateral radial aplasia, Absent thumb, Renal agenesis, Death in i...	OMIM:300514
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Umbilical hernia, Horseshoe kidney, Hypoplastic iliac ...	OMIM:235510
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, 11 pairs of ribs, Micrognathia, Femoral bowing...	ORPHA:140
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Renal hypoplasia/aplasia, Upper ...	ORPHA:2092
Bartsocas-Papas Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Micrognathia, Renal hypoplasia/aplasia, Talipes,...	ORPHA:1234
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Finger syndactyly, Deep plantar creases, Umbilical...	ORPHA:1517
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Hypospadias, Finger syndactyly, Lateral ventricle dilatation, Clinod...	ORPHA:464738
Trisomy 13	Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormality of the ureter, Bilateral single...	ORPHA:3378
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Toe syndactyly, Hydroureter, Hypoplasia of the bladder, 3-4 toe syndactyly, Crossed fused renal e...	OMIM:300707
Radial-Renal Syndrome	Unilateral renal agenesis, Absent thumb, Ectopic kidney, Absent radius	OMIM:179280
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Punctate vertebral calcifications, Stippled c...	OMIM:302960
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Ureteral stenosis, Cone-...	OMIM:309350
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Micrognathia, Bilateral single transverse palmar creases, Hydronephrosis...	ORPHA:2083
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial i...	ORPHA:79345
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna, Neonatal death	OMIM:276822
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered toe, Abnormal foot morphology, Elbow flexion contracture, Renal insufficiency, Enlarged k...	OMIM:608836
Tarp Syndrome	Clinodactyly, Horseshoe kidney, Micrognathia, Single transverse palmar crease, Neonatal death, Po...	OMIM:311900
Jacobsen Syndrome	Toe clinodactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormal form of the vertebral bo...	ORPHA:2308
Mosaic Trisomy 8	Deep plantar creases, Camptodactyly of finger, Micrognathia, Vesicoureteral reflux, Patellar apla...	ORPHA:96061
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Oeis Complex	Congenital hip dislocation, Duplicated collecting system, Absence of the sacrum, Hydroureter, Ren...	OMIM:258040
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Renal hypoplasia, Short toe, Short finger, Bowing of the arm, Broad foot, S...	OMIM:269860
Kabuki Syndrome	Short 5th finger, Hypospadias, Small hand, Abnormal localization of kidney, Abnormal form of the ...	ORPHA:2322
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transver...	OMIM:618161
Microphthalmia, Lenz Type	Hypospadias, Hydroureter, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morpholog...	ORPHA:568
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing...	ORPHA:1507
Temtamy Syndrome	Short toe, Micrognathia, Pes planus, Brachydactyly, Clinodactyly of the 5th finger, Genu varum	ORPHA:1777
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Broad foot, Agenesi...	ORPHA:373
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Talipes, Missing r...	ORPHA:1647
15q26 overgrowth syndrome	Renal agenesis, Duplication of renal pelvis, Camptodactyly of finger, Horseshoe kidney, Micrognat...	DECIPHER:81
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Cone-shaped epiphyses of the phalanges of the hand, Short hu...	ORPHA:420794
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia,...	ORPHA:2256
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Agenesis of corpus callosum, Foot polydactyly, Short metac...	OMIM:305600
Stankiewicz-Isidor Syndrome	Absent thumb, Short thumb, Micrognathia, 2-3 toe syndactyly, Micropenis, Ureteral duplication, Hy...	OMIM:617516
Muenke Syndrome	Broad thumb, Clinodactyly, Short middle phalanx of toe, Radial deviation of finger, Short middle ...	OMIM:602849
Genitopatellar Syndrome	Hypoplastic ilia, Multicystic kidney dysplasia, Micrognathia, Patellar aplasia, Hip contracture, ...	ORPHA:85201
Cloacal Exstrophy	Hydroureter, Ureterocele, Bladder exstrophy, Myelomeningocele, Abnormal tibia morphology, Horsesh...	ORPHA:93929
Joubert Syndrome 37	Postaxial polydactyly, Lumbar hyperlordosis, Hydronephrosis, Micropenis	OMIM:619185
X-Linked Dominant Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Lower limb asymmetry, Upper limb asymmetry, Epiphyseal stippling,...	ORPHA:35173
Suleiman-El-Hattab Syndrome	Microretrognathia, Clinodactyly, Single transverse palmar crease, Polydactyly, Hydronephrosis, Br...	OMIM:618950
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Dubowitz Syndrome	Hypospadias, Small hand, Toe syndactyly, Broad thumb, Sandal gap, Micrognathia, Clinodactyly of t...	ORPHA:235
Stromme Syndrome	Bilateral renal hypoplasia, Preaxial polydactyly, Micrognathia, Agenesis of corpus callosum, Hydr...	OMIM:243605
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short toe, Sandal gap, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5th finger, Sp...	OMIM:617877
Bor Syndrome	Multicystic kidney dysplasia, Branchial cyst, Vesicoureteral reflux, Renal insufficiency, Uretero...	ORPHA:107
Apert Syndrome	Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca...	OMIM:101200
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Talipes, Holopro...	OMIM:107480
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Broad foot, Brachydactyly, Hyperlordosis, Kyphosis	ORPHA:3085
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous syndactyly, Short 5th metacar...	OMIM:618569
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Moderate albuminuria, Short toe, Large knee, Hydronephrosis, Clinodactyly of the 5...	OMIM:619269
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Thakker-Donnai Syndrome	Agenesis of corpus callosum, Cervical C2/C3 vertebral fusion, Hydronephrosis, Short neck, Hemiver...	ORPHA:1780
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Micrognathia, Kyphoscoliosis, Dec...	ORPHA:2980
Hajdu-Cheney Syndrome	Short distal phalanx of finger, Hypospadias, Coarse metaphyseal trabecularization, Short toe, Hyp...	ORPHA:955
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Clinodactyly, Radial deviation of finger, Umbilical hernia, Renal agenesis, Kyphosco...	OMIM:301040
Intellectual Disability, Buenos-Aires Type	Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvic girdle bone morphology, Umbilical h...	ORPHA:3079
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Fraser Syndrome 3	Hypoplasia of the bladder, Short toe, Bilateral renal agenesis, Ureteral agenesis, Micrognathia, ...	OMIM:617667
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Micrognathia, Vesicoureteral reflux, Hydronephrosis, Brachydactyly	OMIM:618265
Tetrasomy 5P	Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Short hallux, Hydrocephalus, Long...	ORPHA:3309
Koolen-De Vries Syndrome	Hypospadias, Hip dislocation, Vesicoureteral reflux, Renal duplication, Vertebral segmentation de...	ORPHA:96169
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Urinary incon...	OMIM:114150
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly, Neural tube defect	OMIM:119580
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Genu recurvatum, Short 4th toe, Recurrent urinary tract infections, Pes planus, Short 3rd toe, Ta...	OMIM:618707
Martsolf Syndrome 1	Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Lumbar hyperlordosis, Micrognathia, ...	OMIM:212720
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Hydronephrosis, Talipes equinovarus, Congenital posterio...	OMIM:100100
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Ectopic kidney, Aplasia o...	OMIM:617247
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia, Duplicated col...	OMIM:270400
Tetraploidy	Radial club hand, Micrognathia, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Deep plantar creases, Overlapping toe, Ve...	OMIM:616580
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Fanconi Anemia, Complementation Group D2	Absent thumb, Short thumb, Renal agenesis, Preaxial hand polydactyly, Horseshoe kidney, Partial d...	OMIM:227646
Raine Syndrome	Hydroureter, Micromelia, Long hallux, Micrognathia, Death in infancy, Neonatal death, Bowing of t...	OMIM:259775
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina...	ORPHA:3467
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro...	OMIM:613684
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Abnormality of the urinary system, Positional foot deformity, Microgna...	ORPHA:96092
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Agenesis of corpus callosum, Pes plan...	ORPHA:857
Rapadilino Syndrome	Aplasia/Hypoplasia of the radius, Absent thumb, Aplasia/Hypoplasia of the patella	OMIM:266280
Aprosencephaly Syndrome	Finger aplasia, Aprosencephaly, Anencephaly	OMIM:207770
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Hydronephrosis, Short neck, U...	OMIM:271520
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Single transverse palmar crease, Agenesis of corpus callosum, 2-3 toe syndactyly, Hy...	OMIM:616449
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Lower limb asymmetry, Renal dysplasia, Pes cavus, Postaxial polydactyly, Hydronephros...	OMIM:300968
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,...	OMIM:615989
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Kyphoscoliosis, Arachnodactyly, Hydronephrosis, Micropenis, Metata...	OMIM:612513
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Glandular hypospadia...	ORPHA:2473
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Renal hypoplasia, Spinal dysraphism, Lower limb asymmetry, Sandal gap, Nephroblasto...	OMIM:612918
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
22Q11.2 Duplication Syndrome	Micrognathia, Displacement of the urethral meatus, Hydronephrosis, Scoliosis, Urethral stenosis	ORPHA:1727
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Bilateral si...	ORPHA:261349
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Supernumerary vertebrae, Abnormal foot morphology, Micro...	OMIM:263750
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin...	OMIM:101600
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Slender finger, Cervical kyphosis, Microretrognathia, Functional abnorm...	ORPHA:2953
3Mc Syndrome 1	Short 5th finger, Caudal appendage, Clinodactyly of the 5th finger, Broad foot, Hydronephrosis, R...	OMIM:257920
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Hydronephrosis, Pes planus, Micropenis, Scoliosis, Kyphosis	ORPHA:364028
Isolated Posterior Meningocele	Enuresis, Thoracic hemivertebrae, Absent Achilles reflex, Hydrocephalus, Lipomyelomeningocele, Me...	ORPHA:268810
Sacral Defect With Anterior Meningocele	Absence of the sacrum, Urinary retention, Myelomeningocele, Myeloschisis, Back pain, Neurogenic b...	OMIM:600145
Cornelia De Lange Syndrome 1	Micrognathia, Short neck, Dislocated radial head, Hypospadias, Ectopic kidney, Reduced renal cort...	OMIM:122470
Cleft Palate, Deafness, And Oligodontia	Short hallux, Sandal gap	OMIM:216300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Bulbous tips of toes, 2-3 toe syndactyly, Hydronephrosis, Lon...	ORPHA:163979
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney, Micrognathia, Tapered finger	ORPHA:1920
Trisomy 18	Microretrognathia, Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Bi...	ORPHA:3380
Wiedemann-Steiner Syndrome	Short 5th finger, Small hand, Short toe, Long hallux, Contracture of the distal interphalangeal j...	OMIM:605130
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalg...	ORPHA:818
Koolen-De Vries Syndrome	Slender finger, Hip dislocation, Prominent fingertip pads, Recurrent urinary tract infections, Po...	OMIM:610443
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Short nec...	OMIM:610832
Chromosome 6Pter-P24 Deletion Syndrome	Umbilical hernia, Agenesis of corpus callosum, Short neck, Hydrocephalus, Broad toe, Hip dysplasi...	OMIM:612582
Hydrolethalus Syndrome 1	Hypospadias, Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Agenesi...	OMIM:236680
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micrognathia, Bilateral single transverse palmar creases, Short neck, Abnormal metacarpal morphol...	ORPHA:2636
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Abnormal form of the vertebral bodie...	ORPHA:2710
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Micrognathia, Short distal phalan...	OMIM:619356
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Micrognathia, Agenesis of corpus callosum, Aplasia o...	ORPHA:3472
Pseudohypoparathyroidism, Type Ia	Short toe, Short finger, Low urinary cyclic AMP response to PTH administration, Short neck, Brach...	OMIM:103580
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Clinodactyly, Overlapping toe, Hydronephrosis, Tapered fi...	OMIM:616737
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Hypospadias, Unilateral renal agenesis, Short toe, Hydronephrosis, Abn...	ORPHA:464311
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st metacarpal, Bilateral renal agene...	OMIM:620305
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Overlapping toe, Large placenta, Single transverse palmar crease, Hydronephrosi...	ORPHA:254528
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Agenesis of corpus callosum	OMIM:613735
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u...	ORPHA:2973
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Glandular hypospadias, Micrognathia, Hydronephrosis, Talipes equinovar...	ORPHA:1358
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology	OMIM:617784
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney, Hydrocephalus, Agenesis of corpus callosum	OMIM:613001
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Laron Syndrome	Short toe, Micrognathia, Brachydactyly, Hypoplasia of penis, Abnormality of the elbow	ORPHA:633
Teebi-Shaltout Syndrome	Caudal appendage, Ureteral stenosis, Horseshoe kidney, Single transverse palmar crease, Hydroneph...	OMIM:272950
Iniencephaly	Rhizomelia, Spinal dysraphism, Absent vertebra, Rocker bottom foot, Renal agenesis, Myelomeningoc...	ORPHA:63259
Kleefstra Syndrome	Renal insufficiency, Vesicoureteral reflux, Agenesis of corpus callosum, Hydronephrosis, Talipes ...	ORPHA:261494
Al-Gazali Syndrome	Broad distal phalanx of finger, Micrognathia, Hydronephrosis, Wrist flexion contracture, Bowed hu...	OMIM:609465
Fryns Syndrome	Short distal phalanx of finger, Multicystic kidney dysplasia, Micrognathia, Vesicoureteral reflux...	ORPHA:2059
Dyrk1A-Related Intellectual Disability Syndrome	Acromesomelia, Hypospadias, Unilateral renal agenesis, Toe syndactyly, Structural foot deformity,...	ORPHA:464306
Thumb Agenesis, Short Stature, And Immunodeficiency	Absent thumb	OMIM:274190
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Epiphyseal st...	OMIM:214100
Gabriele-De Vries Syndrome	Lateral ventricle dilatation, Sandal gap, Micrognathia, Ureteropelvic junction obstruction, Hydro...	OMIM:617557
Fryns Syndrome	Short distal phalanx of finger, Joint contracture of the hand, Microretrognathia, Hypospadias, Pr...	OMIM:229850
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Clinodactyly, Micrognathia, Vesicoureteral reflux, Postaxial polydactyly, Hydro...	OMIM:618460
Fanconi Anemia, Complementation Group P	Absent thumb, Short thumb, Horseshoe kidney, Micrognathia, Hypoplasia of the radius, Pelvic kidney	OMIM:613951
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Shor...	ORPHA:2750
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Short fourth metatarsal, Short phalanx of finger, Short metacarpal	OMIM:600430
Micro Syndrome	Kyphosis, Micrognathia, Hydronephrosis, Abnormal localization of kidney, Scoliosis, Hypoplasia of...	ORPHA:2510
Temtamy Syndrome	Micrognathia, Agenesis of corpus callosum, Talipes equinovarus, Pes planus, Brachydactyly, Short ...	OMIM:218340
Limb Body Wall Complex	Progressive congenital scoliosis, Abnormality of the vertebral column, Broad hallux, Myelomeningo...	ORPHA:2369
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Hydronephrosis, Scoliosis	OMIM:619179
Hyperphosphatasia-Intellectual Disability Syndrome	Clinodactyly, Micrognathia, Hydronephrosis, Short neck, Hip dysplasia, Shortening of all distal p...	ORPHA:247262
Schinzel-Giedion Syndrome	Abnormality of the ureter, Overlapping toe, Micrognathia, Overlapping fingers, Radioulnar synosto...	ORPHA:798
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Renal hypoplasia, Microphallus, Umbilical hernia, Micrognathia, Ves...	OMIM:618454
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Agenesis of corpus callosum, Arachnodactyly, Pes planus, Hypospadias, Promin...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Agenesis of corpus callosum, Arachnodactyly, Pes planus, Hypospadias, Promin...	ORPHA:363958
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short toe, Micrognathia, Talipes equinovarus, Short neck, Hypospadias	ORPHA:98791
Noonan Syndrome 4	Hydronephrosis, Cubitus valgus, Short neck, Ureteral duplication, Scoliosis	OMIM:610733
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Short neck, Co...	OMIM:266920
Igg4-Related Aortitis	Low back pain, Hypereosinophilia, Hydronephrosis	ORPHA:449400
Robinow Syndrome	Webbed penis, Short distal phalanx of finger, Radioulnar dislocation, Multicystic kidney dysplasi...	ORPHA:97360
Distal Deletion 12Q	Broad hallux, Long foot, Elbow flexion contracture, Overlapping toe, Micrognathia, Vesicoureteral...	ORPHA:96149
Wolfram Syndrome 1	Hydronephrosis, Neurogenic bladder, Hydroureter, Limited mobility of proximal interphalangeal joint	OMIM:222300
Floating-Harbor Syndrome	Broad thumb, Short neck, Broad fingertip, Dislocated radial head, Hypospadias, Cone-shaped epiphy...	OMIM:136140
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micrognathia, Death in infancy, Hydronephrosis, Short neck, Postaxial hand polydactyly, Micropenis	OMIM:235255
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Fetal megacystis, Hydroureter, Neonatal death	OMIM:619362
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Vesicoureteral reflux, 2-3 finger synd...	OMIM:603467
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs...	ORPHA:49041
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Horseshoe kidney, Micrognathia, S...	ORPHA:2886
Zellweger Syndrome	Multicystic kidney dysplasia, Micrognathia, Epiphyseal stippling, Death in infancy, Hydronephrosi...	ORPHA:912
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short neck, Bro...	OMIM:180700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Death in infancy, Agenesis of corpus callosum, Hydronephrosis...	ORPHA:847
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Micrognathia	OMIM:607598
Autosomal Recessive Spastic Paraplegia Type 20	Clinodactyly, Abnormal foot morphology, Abnormal hand morphology, Genu valgum, Pes cavus, Abnorma...	ORPHA:101000
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Hydronephrosis, Pes planus, Brachydactyly, Narrow iliac wing, Short pal...	OMIM:300712
Congenital Myopathy 17	Hand clenching, Renal hypoplasia, Clinodactyly, Overlapping toe, Overlapping fingers, Ureteropelv...	OMIM:618975
Congenital Disorder Of Glycosylation, Type Iie	Overlapping fingers, Micrognathia, Death in infancy, Hydronephrosis, Short neck, Neurogenic bladd...	OMIM:608779
Bohring-Opitz Syndrome	Short toe, Deep plantar creases, Overlapping toe, Micrognathia, Mesomelic/rhizomelic limb shorten...	OMIM:605039
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Hypoplastic sacrum, Micrognathia, Shor...	OMIM:614083
Ulnar-Mammary Syndrome	Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ...	OMIM:181450
Oliver Syndrome	Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f...	ORPHA:2920
Cardiofaciocutaneous Syndrome 1	Micrognathia, Hydronephrosis, Cubitus valgus, Short neck, Deep palmar crease, Hydrocephalus, Clin...	OMIM:115150
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Broad foot, Agenesis of corpus callosum, Talipes equinovarus, 2-3 finger syndactyly,...	OMIM:312870
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Micrognathia, Short neck, Abnormal metacarpal morphology, Absent radius, Polycystic...	OMIM:268300
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Hydrourete...	OMIM:269150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Occipital encephalocele, 11 pairs of ribs, Agenesis of corpus callo...	OMIM:615287
Alg3-Cdg	Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tube defect	ORPHA:79321
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes	OMIM:192445
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Hypospadias, Abnormality of the urinary system, Abnormality of the...	ORPHA:280
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Short toe, Abnormal renal morphology, Hydrocephalus, Delayed ossi...	OMIM:239300
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria	OMIM:278300
Coffin-Siris Syndrome 1	Aplasia/Hypoplasia of the patella, Dislocated radial head, Short distal phalanx of the 5th finger...	OMIM:135900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Abnormal ilium morphology, Short distal phalanx of finger, Deep plantar creases, Micrognathia, Ve...	OMIM:614080
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Small hand, Microretrognathia, Proportionate shortening of all digits, Deep longitudinal plantar ...	ORPHA:280633
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Recurrent urinary tract infect...	OMIM:620494
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Aplasia of the phalanges of the 3rd toe	ORPHA:2229
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Abnormal renal morphology, Absent ra...	OMIM:227650
8Q24.3 Microdeletion Syndrome	Branchial cyst, Talipes, Short neck, Pes planus, Short hallux, Abnormality of the kidney, Short 5...	ORPHA:508488
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Enuresis, Micrognathia, Single transverse palmar crease, Hydronephrosi...	ORPHA:96121
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Genu valgum, Abnormal morphology of ulna, Hydronephrosis, Cubitus valgu...	ORPHA:1340
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Tibial torsion, Overlapping toe, Vesicoureteral reflux, 2-3 toe syndactyly, Hydronephrosis, Micro...	OMIM:618653
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Absent radius, Duplicated collecting...	OMIM:227645
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Agenesis of corpus callosum, Talipes equinovar...	OMIM:180849
Diphallia	Hypospadias, Penoscrotal transposition, Absent thumb, Bladder exstrophy, Horseshoe kidney, Distal...	ORPHA:227
Borjeson-Forssman-Lehmann Syndrome	Short toe, Abnormal hip bone morphology, Broad foot, Camptodactyly of toe, Hypoplasia of penis, T...	ORPHA:127
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Broad foot, Agenesis of corpus callosum, Limited elbow movement...	OMIM:261540
Occipital Horn Syndrome	Platyspondyly, Ureteral obstruction, Genu valgum, Limited elbow extension, Short humerus, Short c...	OMIM:304150
Diamond-Blackfan Anemia 21	Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Micrognathia, Cubitus valgus, Pes ...	OMIM:620072
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Absent radius, Duplicated collecting...	OMIM:600901
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Micromelia, Crumpled long bones, Death in infancy, Hydronephrosis, Femoral retroversi...	OMIM:610682
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short ...	OMIM:105650
Baller-Gerold Syndrome	Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Patellar aplasia, Agenesis of cor...	OMIM:218600
Microphthalmia, Syndromic 9	Renal hypoplasia, Horseshoe kidney, Micrognathia, Neonatal death, Hydronephrosis, Pelvic kidney, ...	OMIM:601186
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly	ORPHA:1297
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Branchial anomaly, Vesicoureteral reflux, Vertebral segmentation defect, Talipes, Abnormal bladde...	ORPHA:453499
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle...	OMIM:618022
Floating-Harbor Syndrome	Dilatation of the renal pelvis, Clinodactyly, Short neck, Broad fingertip, Dislocated radial head...	ORPHA:2044
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Micrognathia, Duplication of thumb phalanx, Hydronephrosis, Abnormality of the upper...	ORPHA:2995
Eec Syndrome	Hypospadias, Toe syndactyly, Finger syndactyly, Ectrodactyly, Vesicoureteral reflux, Renal hypopl...	ORPHA:1896
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Slender long bone, Micrognathia, Ureteropelvic junction obstruction, Sing...	ORPHA:444072
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Cat Eye Syndrome	Renal agenesis, Umbilical hernia, Horseshoe kidney, Micrognathia, Vesicoureteral reflux, Hydronep...	OMIM:115470
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Multicystic kidney dysplasia, Short toe, Micromelia, Umbilical hernia...	ORPHA:709
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Microretrognathia, Brachydactyly	ORPHA:457193
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micrognathia, Hydronephrosis, Abnormal renal morphology, Short neck, Postaxial hand polydactyly, ...	ORPHA:1655
Johanson-Blizzard Syndrome	Hydronephrosis, Hypoplasia of penis, Hypospadias, Death in infancy	ORPHA:2315
Tetrasomy 9P	Small hand, Hypoplastic scapulae, Umbilical hernia, Recurrent urinary tract infections, Horseshoe...	ORPHA:3310
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentrati...	ORPHA:79500
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Wolf-Hirschhorn Syndrome	Micrognathia, Agenesis of corpus callosum, Talipes equinovarus, Radioulnar synostosis, Short hall...	OMIM:194190
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Hydroureter, Hypoplastic sacrum, Ectrodactyly, Ureterocele, Renal agenesis, Megac...	OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Semilobar holoprosencephaly, Ureterocele, Hydroureter, Renal agenesis, Vesicouret...	OMIM:129900
Orofaciodigital Syndrome I	Microretrognathia, Clinodactyly, Radial deviation of finger, Myelomeningocele, Agenesis of corpus...	OMIM:311200
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ...	ORPHA:79403
Alg9-Cdg	Rhizomelia, Microretrognathia, Hypoplasia of the bladder, Flared metaphysis, Micrognathia, Abnorm...	ORPHA:79328
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Hydronephrosis, Postaxial ha...	OMIM:236700
Tatton-Brown-Rahman Syndrome	Umbilical hernia, Widely spaced toes, Short toe, Kyphoscoliosis	ORPHA:404443
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short 5th finger, Hypospadias, Enuresis, Short thumb, Renal agenesis, Short finger, Grade III ves...	OMIM:619522
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Knee flexion contracture, Hydronephrosis, Short long bone, Bilateral t...	OMIM:620454
Intellectual Developmental Disorder, Autosomal Dominant 53	Hydronephrosis, Genu valgum, Micropenis, Short femur	OMIM:617798
Kabuki Syndrome 1	Abnormal vertebral morphology, Short 5th finger, Congenital hip dislocation, Lateral ventricle di...	OMIM:147920
Webb-Dattani Syndrome	Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hip dislocation	OMIM:615926
Cutis Laxa, Autosomal Recessive, Type Ic	Multiple bladder diverticula, Sandal gap, Umbilical hernia, Micrognathia, Death in childhood, Dea...	OMIM:613177
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Umbilic...	OMIM:280000
Omenn Syndrome	Nephrotic syndrome, Eosinophilia, Abnormal metaphysis morphology, Short toe	ORPHA:39041
Distal Duplication 5Q	Absent thumb, Micrognathia, Hypoplasia of the ulna, Hypoplasia of the radius, Brachydactyly, Hypo...	ORPHA:96097
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
Nablus Mask-Like Facial Syndrome	Joint contracture of the hand, Clinodactyly, Sandal gap, Single transverse palmar crease, Short n...	OMIM:608156
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Absen...	ORPHA:93271
46,Xy Sex Reversal 4	Hydronephrosis, Micrognathia, Ureteropelvic junction obstruction, Renal dysplasia	OMIM:154230
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Umbilical hernia, Brachydactyly, Clinodactyly of the 5th finger, Short distal phalanx of toe, Sym...	ORPHA:1292
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis, Drumstick terminal phalanges	ORPHA:541423
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Clinodactyly, Overlapping toe, Hydronephrosis, Tapered fi...	ORPHA:487796
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Knobloch Syndrome 1	Occipital encephalocele, Bifid ureter, Renal duplication, Hydronephrosis, Duplicated collecting s...	OMIM:267750
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Mic...	ORPHA:2363
Opitz Gbbb Syndrome	Abnormality of the urinary system, Umbilical hernia, Micrognathia, Vesicoureteral reflux, Vertebr...	ORPHA:2745
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation of the 2nd finger, ...	OMIM:616145
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary re...	ORPHA:79404
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Vesicoureteral reflux, Vertebral segmentation defect, Agenesis of corpus callo...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Vesicoureteral reflux, Vertebral segmentation defect, Agenesis of corpus callo...	ORPHA:352665
3Q29 Microdeletion Syndrome	Horseshoe kidney, Six lumbar vertebrae, Clinodactyly of the 5th finger, Hypospadias, Tapered finger	ORPHA:65286
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Micrognath...	OMIM:263650
Cranioectodermal Dysplasia 1	Chronic kidney disease, Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radi...	OMIM:218330
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida, Supernumerary vertebrae	OMIM:193500
Holoprosencephaly 3	Hydronephrosis, Holoprosencephaly	OMIM:142945
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb	OMIM:619239
Genitopatellar Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Inferior pubic ramus hypoplasia, Microg...	OMIM:606170
Monosomy 22Q13.3	Umbilical hernia, Recurrent pyelonephritis, Vesicoureteral reflux, Agenesis of corpus callosum, H...	ORPHA:48652
Charge Syndrome	Bifid femur, Umbilical hernia, Abnormal tibia morphology, Horseshoe kidney, Clinodactyly of the 5...	ORPHA:138
1P36 Deletion Syndrome	Hypospadias, Lower limb asymmetry, Spinal canal stenosis, Camptodactyly of finger, 11 pairs of ri...	ORPHA:1606
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Renal hypoplasia, Aminoaciduria, Nephrocalcinos...	OMIM:617913
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Micrognathia, Pes planus, Six lumbar vertebrae	OMIM:619122
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Charge Syndrome	Renal hypoplasia, Bifid femur, Short thumb, Hand monodactyly, Umbilical hernia, Renal agenesis, H...	OMIM:214800
Arboleda-Tham Syndrome	Microretrognathia, Lower limb asymmetry, Sandal gap, Enlarged proximal interphalangeal joints, Re...	OMIM:616268
Wiedemann-Rautenstrauch Syndrome	Agenesis of corpus callosum, Hypospadias, Irregular sclerotic endplates, Hypoplastic ilia, Wide p...	ORPHA:3455
Zimmermann-Laband Syndrome 1	Short distal phalanx of finger, Long penis, Umbilical hernia, Nephrolithiasis, Spina bifida occul...	OMIM:135500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion

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