Gene: Sall1 MGI:1889585

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

spalt like transcription factor 1

Synonyms:

Msal-3

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 Sall1 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 Sall1 (2 diseases)
Human diseases predicted to be associated with Sall1 (1450 diseases)

The table below shows human diseases associated to Sall1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Townes-Brocks Syndrome 1		Hypospadias, 2-3 toe syndactyly, Triphalangeal thumb, Duodenal atresia, Renal dysplasia, Short me...	OMIM:107480
Townes-Brocks Syndrome		Hypospadias, Broad hallux phalanx, Triphalangeal thumb, Overfolded helix, Hearing impairment, Toe...	ORPHA:857

The table below shows human diseases predicted to be associated to Sall1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Radial Hemimelia	Deviation of the hand or of fingers of the hand, Abnormality of the trapezium, Aplasia/Hypoplasia...	ORPHA:93321
Liebenberg Syndrome	Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality...	OMIM:186550
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all distal phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Short middle phalanx of finger, Cone-shaped epiphysis, Delayed epiphyseal ossification, Short 1st...	OMIM:182255
Epiphyseal Dysplasia, Baumann Type	Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation...	OMIM:610797
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Dislocated radial head, Limited elbow extension, Radioulnar synostosis	OMIM:179300
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment, Hydronephrosis, Abnormality of the urinary system, Bifid distal ph...	ORPHA:2669
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,...	OMIM:610713
Synpolydactyly 1	4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda...	OMIM:186000
Syndactyly Type 2	2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San...	ORPHA:93403
Talo-Patello-Scaphoid Osteolysis	Synovitis, Osteolysis of talus, Enlarged joints, Short 4th metacarpal, Osteolysis of scaphoids, O...	ORPHA:50809
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly	OMIM:186100
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate...	OMIM:609655
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met...	ORPHA:1228
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Metaphyseal irregularity, Streaky metaphyseal sclerosis, Carpal bone hypoplasia, Irregular epiphy...	OMIM:603546
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd...	OMIM:174500
Santos Syndrome	Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi...	OMIM:613005
Acheiropody	Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A...	OMIM:200500
Syndactyly Type 1	Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly	ORPHA:93402
Langer Mesomelic Dysplasia	Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o...	ORPHA:2632
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short middle phalanx of finger, Absent...	OMIM:606895
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment, Toe syndactyly, Reduced proximal interphalangeal joint space, Symp...	ORPHA:3246
Syndactyly, Type V	Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl...	OMIM:186300
Postaxial Tetramelic Oligodactyly	Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger	ORPHA:2730
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun...	OMIM:176240
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Delayed ossification of carpal bones, Pre...	OMIM:105835
Pseudoachondroplasia	Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula...	OMIM:177170
Symphalangism With Multiple Anomalies Of Hands And Feet	Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim...	OMIM:185750
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli...	ORPHA:1891
Distal Symphalangism	Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Camptodactyly of f...	ORPHA:3248
Wahab Syndrome	Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,...	OMIM:615170
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux	OMIM:234280
Acrocephalopolysyndactyly Type Iv	Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi...	OMIM:201020
Holzgreve Syndrome	Renal hypoplasia, Cleft palate, Renal agenesis, Hand polydactyly	OMIM:236110
Tukel Syndrome	Carpal synostosis, Syndactyly, Postaxial oligodactyly, Carpal bone aplasia	OMIM:609428
Brachydactyly, Type C	Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe...	OMIM:113100
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly	OMIM:612576
Ivic Syndrome	Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Short 1st metacarpal, Shor...	OMIM:147750
Absence Deformity Of Leg-Cataract Syndrome	Abnormality of epiphysis morphology, Lower limb undergrowth, Abnormality of femur morphology, Ana...	ORPHA:2310
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis	OMIM:263450
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Multiple Synostoses Syndrome	Conductive hearing impairment, Cone-shaped epiphysis, Symphalangism affecting the phalanges of th...	ORPHA:3237
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Cleft palate, Hand oligodactyly, Abnormality of the ulna, Glossoptosis, Clinodactyl...	ORPHA:3104
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Unilateral renal agenesis, Pachygyria, Vesicoureteral reflux, Ag...	ORPHA:2512
Pierre Robin Syndrome And Oligodactyly	Micrognathia, Cleft palate, Hand oligodactyly	OMIM:172880
Mental Retardation, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Syndactyly Type 5	2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor...	ORPHA:93406
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu...	OMIM:186570
Hypouricemia, Renal, 1	Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosis, Increased urin...	OMIM:220150
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis	OMIM:256690
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular acetabular roof, Coxa vara, Irregular, rachitic-like metaphyses, Enlarged joints, Sever...	OMIM:184252
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Renal hypoplasia, Conductive hearing impairment, High palate, Cleft palate, Ab...	ORPHA:1307
Renal Hypoplasia	Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome...	ORPHA:93101
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp...	ORPHA:157801
Acromesomelic Dysplasia, Hunter-Thompson Type	Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ...	ORPHA:968
Hirschsprung Disease	Nausea and vomiting, Aganglionic megacolon, Adducted thumb, Functional abnormality of the gastroi...	ORPHA:388
Syndactyly Type 3	Short toe, Camptodactyly of finger, Finger syndactyly	ORPHA:93404
Synpolydactyly 2	Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar...	OMIM:608180
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bilateral renal agenesis, Patent ductus arteriosus, Unilateral renal agenesis, ...	OMIM:618845
Split-Hand/Foot Malformation 6	Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot	OMIM:225300
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Advanced ossification of carpal bon...	OMIM:617719
Orofaciodigital Syndrome Xvii	High, narrow palate, Renal hypoplasia, Polydactyly, Prominent metopic ridge, Hearing impairment, ...	OMIM:617926
Crome Syndrome	Renal tubular epithelial necrosis, Microcephaly	OMIM:218900
Epiphyseal Dysplasia, Multiple, 5	Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu...	OMIM:607078
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly, Finger syndactyly	ORPHA:2935
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Renal hypoplasia, Micrognathia, Renal cyst, Abnormality of the pinna, Syndactyly, Mesomelia, Hypo...	OMIM:228940
Syndactyly, Type Iv	1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl...	OMIM:186200
Acromesomelic Dysplasia 2C	Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge...	OMIM:201250
Congenital Absence Of Upper Arm And Forearm With Hand Present	Cleft palate, Polydactyly, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal hip bone morph...	ORPHA:294975
Congenital Radioulnar Synostosis	Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of...	ORPHA:3269
Split-Hand/Foot Malformation 1	Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad...	OMIM:183600
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins...	OMIM:601331
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst, Abnormality of the kidney	OMIM:615987
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Knee dislocation, Tapered finger, Multiple joint dislocation, Metaphyseal irregularity, Dislocate...	OMIM:618395
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal ilium morphology, Short middle phalanx of finger, Genu varum, Short greater sciatic notc...	ORPHA:93314
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Hypoplasia of the radius, Rectal atre...	OMIM:613390
Auditory Neuropathy, Autosomal Dominant, 1	Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials...	OMIM:609129
Focal Segmental Glomerulosclerosis 7	Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616002
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly	ORPHA:71289
Brachydactyly Type B2	Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car...	ORPHA:140908
Leri-Weill Dyschondrosteosis	Abnormality of the carpal bones, Madelung deformity, Tibial bowing, Radial bowing, Abnormal metat...	OMIM:127300
Split-Foot Malformation With Mesoaxial Polydactyly	Cutaneous syndactyly	OMIM:616890
Bardet-Biedl Syndrome 16	Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Hearing impairment, Renal in...	OMIM:615993
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Dysphagia, Cleft palate, Renal hypoplasia, Hydronephrosis, Renal agenesis, R...	OMIM:618494
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Brachydactyly, Type A1	Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ...	OMIM:112500
Symphalangism, C. S. Lewis Type	Synostosis involving the 1st metacarpal	OMIM:185650
Leg, Absence Deformity Of, With Congenital Cataract	Duplication involving bones of the feet, Anal atresia	OMIM:246000
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Genu varum, Irregular acetabular roof, Delayed ossification of carpal bones	OMIM:617974
Split-Hand/Foot Malformation 3	Renal hypoplasia, High palate, Cleft palate, Abnormality of the pinna, Split hand, Camptodactyly,...	OMIM:246560
Brachydactyly Type B	Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala...	ORPHA:93383
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness	Broad palm, Metaphyseal cupping, Metaphyseal dysplasia, Genu varum, Metaphyseal widening, Metaphy...	OMIM:250420
Juberg-Hayward Syndrome	Horseshoe kidney, Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnormality of...	OMIM:216100
Camptosynpolydactyly, Complex	Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly	OMIM:607539
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Craniosynostosis, Arachnodactyly, Humeroradial synostosis	OMIM:614416
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Visceral Myopathy 2	Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es...	OMIM:619350
Ulnar Hemimelia	Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu...	ORPHA:93320
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Fanconi Anemia, Complementation Group U	Absent scaphoid	OMIM:617247
Fibular Hemimelia	Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty...	ORPHA:93323
Proximal Symphalangism	Tarsal synostosis, Proximal symphalangism, Elbow ankylosis, Metacarpophalangeal synostosis, Synos...	ORPHA:3250
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Micrognathia, Renal agenesis, Hypoplasia of the radius, Syndactyly, Hypoplasia ...	OMIM:212780
Acropectorovertebral Dysplasia	Toe syndactyly, Capitate-hamate fusion, Bifid distal phalanx of the thumb, Spina bifida occulta a...	OMIM:102510
Absent Radius-Anogenital Anomalies Syndrome	Perineal fistula, Rectovaginal fistula, Rectal atresia, Anal atresia, Hypoplasia of the radius, H...	ORPHA:3016
Vacterl Association With Hydrocephalus	Renal hypoplasia, Radial club hand, Stillbirth, Anal atresia, Hydrocephalus, Absent thumb, Aquedu...	OMIM:276950
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Irregular tarsal ossification, High palate, Small epiphyses, Irregular carpal bones, Ivory epiphy...	OMIM:226980
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Renal cortical hyperechogenicity, Renal hypoplasia, Avascular necrosis of the capital femoral epi...	OMIM:611555
Radial Aplasia, X-Linked	Penile hypospadias, Hydrocephalus, Absent radius, Anal atresia	OMIM:312190
Isolated Split Hand-Split Foot Malformation	Absent hand, Oligodactyly, Split hand, Finger syndactyly	ORPHA:2440
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostosis, Distal symphalangism of han...	OMIM:185900
Bardet-Biedl Syndrome 6	Hypospadias, Syndactyly, Renal cyst, Polydactyly	OMIM:605231
Dyggve-Melchior-Clausen Syndrome, X-Linked	Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Genu v...	OMIM:304950
Baller-Gerold Syndrome	Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hydrocephalus, Short hum...	OMIM:218600
Nephronophthisis 20	Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease	OMIM:617271
Brachydactyly Type A7	Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha...	ORPHA:93397
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Occipital meningocele, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypo...	OMIM:276820
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat...	OMIM:605289
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Abnormal joint morphology, A...	ORPHA:93351
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Microcephaly, Unilateral renal agenesis	OMIM:601355
Renal Hypodysplasia/Aplasia 3	Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ...	OMIM:617805
Brachydactyly, Type A2	Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap...	OMIM:112600
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ...	ORPHA:52056
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis...	ORPHA:1275
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren...	ORPHA:228302
Polydactyly, Postaxial, Type A1	Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb	OMIM:174200
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex	OMIM:601071
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Hypoplasia of prox...	OMIM:184253
Carnitine Palmitoyltransferase Ii Deficiency	Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Cerebral calcification, Red-...	ORPHA:157
Tibial Hemimelia	Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Cleft palate, Absent tib...	ORPHA:93322
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Renal dysplasia, Renal cyst, Ureteral ...	OMIM:236500
Pseudoachondroplasia	Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ...	ORPHA:750
Dyggve-Melchior-Clausen Disease	Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening...	OMIM:223800
Meier-Gorlin Syndrome 8	Renal hypoplasia, Micrognathia, Low-set ears, Microtia	OMIM:617564
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Toe clinodactyly, Limited elbow ext...	ORPHA:457395
Syndactyly Type 4	Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi...	ORPHA:93405
Congenital Anomalies Of Kidney And Urinary Tract 2	Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong...	OMIM:143400
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Small epiphyses, Hypoplastic iliac wing, Tapered metacarpals, Cubitus valgus, Short phalanx of fi...	OMIM:611717
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Micrognathia, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal p...	ORPHA:2256
Acromesomelic Dysplasia 2B	Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S...	OMIM:228900
Ectrodactyly-Polydactyly Syndrome	Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp...	ORPHA:1892
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Pachygyria, Renal cyst	OMIM:614870
Verheij Syndrome	Renal hypoplasia, Renal agenesis, Vertebral fusion, Feeding difficulties, Renal cyst, Short 5th f...	OMIM:615583
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Brachydactyly, Short middle phalanx of finger, Fused cervical vertebrae, Anal atresia	ORPHA:1436
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia	OMIM:156232
Desmoid Tumor	Hydronephrosis, Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhag...	ORPHA:873
Orofaciodigital Syndrome Type 10	Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal...	ORPHA:2756
Acrorenal Syndrome, Autosomal Recessive	Renal hypoplasia, Clinodactyly, Split hand, Decreased numbers of nephrons, Radial deviation of fi...	OMIM:201310
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Bilateral triphalangeal thumbs, Preaxial foot polydactyly, Renal cyst, Postaxial hand polydactyly	OMIM:138790
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E...	ORPHA:1986
Peutz-Jeghers Syndrome	Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Vomiting, Neoplasm of the rectum, ...	ORPHA:2869
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease	OMIM:617610
Léri-Weill Dyschondrosteosis	Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm...	ORPHA:240
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Proximal placement of thumb, Absent radius, Anal atresia, Hydro...	OMIM:314390
Split-Hand/Foot Malformation 2	Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot	OMIM:313350
Polydactyly, Preaxial Iv	3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy...	OMIM:174700
Brachydactyly-Syndactyly, Zhao Type	Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect...	ORPHA:93409
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Deafness, Autosomal Dominant 23	Sensorineural hearing impairment, Conductive hearing impairment, Vesicoureteral reflux	OMIM:605192
Anauxetic Dysplasia 1	Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Delayed ossification of carpal b...	OMIM:607095
Multiple Synostoses Syndrome 2	Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Finger symphala...	OMIM:610017
Renal Coloboma Syndrome	Renal hypoplasia, Renal dysplasia, Optic disc coloboma, Hearing impairment, Multicystic kidney dy...	ORPHA:1475
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Rhizomelia, Low-set ears	OMIM:617661
Tetramelic Monodactyly	Foot monodactyly, Hand monodactyly, Split foot, Split hand	OMIM:187510
Acrofacial Dysostosis Syndrome Of Rodriguez	Micrognathia, High palate, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapp...	OMIM:201170
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Cerebral calcification, Red-...	ORPHA:228308
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly, Neural tube defect, Anal atresia	OMIM:119580
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p...	OMIM:274000
Rhyns Syndrome	Abnormal acetabulum morphology, Small epiphyses, Nephronophthisis, Abnormality of long bone morph...	ORPHA:140976
Chromosome 2Q31.1 Duplication Syndrome	Cutaneous syndactyly, Talipes equinovarus	OMIM:613681
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ...	OMIM:228930
Brachydactyly, Type B2	Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea...	OMIM:611377
Multiple Synostoses Syndrome 3	Cleft palate, Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad t...	OMIM:612961
Symphalangism, Proximal, 1A	Tarsal synostosis, Conductive hearing impairment, Proximal symphalangism of hands, Short 5th meta...	OMIM:185800
Abruzzo-Erickson Syndrome	Hypospadias, Conductive hearing impairment, Toe syndactyly, Cleft palate, Ulnar deviation of fing...	ORPHA:921
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Bresek Syndrome	Renal hypoplasia, Aganglionic megacolon, Cleft palate, Renal dysplasia, Optic nerve hypoplasia, H...	ORPHA:85284
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Genu valgum, Hypoplasia of penis, Anal atresia	ORPHA:1381
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux	OMIM:618270
Say Syndrome	Cystic renal dysplasia, Micrognathia, Cleft palate, Tapered finger, Macrotia, Proximal renal tubu...	OMIM:181180
Fanconi Anemia, Complementation Group R	Hydrocephalus, Anal atresia	OMIM:617244
Bardet-Biedl Syndrome 5	Micropenis, Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Cenani-Lenz Syndrome	High, narrow palate, Toe syndactyly, Oligodactyly, Synostosis of carpal bones, Hypoplasia of the ...	ORPHA:3258
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Radial-Renal Syndrome	Ectopic kidney, Unilateral renal agenesis	OMIM:179280
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal hypoplasia, Toe syndactyly, Renal agenesis, Micrognathia, Bowing of the long b...	ORPHA:171839
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metatarsal, Cubitus valgus, Enlarged interphalangeal joints, Genu recurvatum...	OMIM:151200
Acropectorovertebral Dysplasia	Tarsal synostosis, High, narrow palate, Cleft palate, Triphalangeal thumb, Synostosis of carpal b...	ORPHA:957
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly...	ORPHA:2091
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r...	OMIM:252600
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4...	OMIM:609432
Synostoses, Tarsal, Carpal, And Digital	Tarsal synostosis, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle phalanges of ...	OMIM:186400
Nephronophthisis 13	Renal hypoplasia, Polydactyly, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic...	OMIM:614377
Burn-Mckeown Syndrome	Renal hypoplasia, Feeding difficulties in infancy, Cleft palate, Conductive hearing impairment, 2...	OMIM:608572
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f...	OMIM:613092
Anus, Imperforate	Hypospadias, Ectopic anus, Anal atresia	OMIM:301800
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Lowe-Kohn-Cohen Syndrome	Anorectal anomaly, Nephropathy, Anal atresia	ORPHA:2408
Conductive Deafness-Malformed External Ear Syndrome	Conductive hearing impairment, High palate, Overfolded helix, Abnormality of the pinna, Sensorine...	ORPHA:3216
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet	Hypoplasia of the ulna, Syndactyly, Split foot, Short finger	OMIM:314360
Arthrogryposis, Distal, Type 2B2	Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca...	OMIM:618435
Achondroplasia	Conductive hearing impairment, Genu varum, Bowing of the legs, Rhizomelia, Recurrent otitis media...	OMIM:100800
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Arrhinencephaly, Phocomelia, Aplastic clavicle, Abnormality of the radius, Abnormal...	ORPHA:2538
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe	OMIM:600384
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab...	OMIM:246570
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Syndactyly, 2-4 toe syndactyly	OMIM:241000
Femur-Fibula-Ulna Complex	Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop...	ORPHA:2019
Osebold-Remondini Syndrome	Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ...	OMIM:112910
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short middle phalanx of finger, Fused cervical vertebrae, Anal atresia	OMIM:309620
Oligomeganephronia	Bilateral renal hypoplasia, Renal tubular atrophy, Branchial cyst, Abnormal nephron morphology, P...	ORPHA:2260
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Abnormality of the ureter	ORPHA:2487
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Renal agenesis, Unilateral renal agenesis	OMIM:601076
Orofaciodigital Syndrome Vi	Conductive hearing impairment, Micrognathia, High palate, Cleft palate, Renal agenesis, Toe synda...	OMIM:277170
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto...	ORPHA:1836
Syndromic Recessive X-Linked Ichthyosis	Lissencephaly, Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Hypertelorism-Microtia-Facial Clefting Syndrome	Horseshoe kidney, Conductive hearing impairment, Median cleft lip and palate, Crossed fused renal...	ORPHA:2213
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Cleft palate, Abnormal vertebral segmentation and fusion, Cervical...	OMIM:118100
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Renal hypoplasia, Talipes equinovarus, Hypertrophy of the urinary bladder, Renal dysplasia, Anal ...	OMIM:601389
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus, Micropenis, Unilateral renal agenesis, Lissencephaly, Microcephaly	OMIM:618142
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Short Stature-Wormian Bones-Dextrocardia Syndrome	Micrognathia, High palate, Midshaft hypospadias, Wormian bones, Anal atresia, Camptodactyly of fi...	ORPHA:2863
Feingold Syndrome 2	2-3 toe syndactyly, 3-4 toe syndactyly, Short middle phalanx of the 5th finger, Short thumb, Inte...	OMIM:614326
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft palate, Absent tibia, Hamartoma of tongue, Talipes equinovarus, Short ribs, Micropenis, Fem...	OMIM:613091
Duane-Radial Ray Syndrome	Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Short humerus, Upper limb muscle hypop...	OMIM:607323
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Renal Caliceal Diverticuli-Deafness Syndrome	Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou...	ORPHA:2838
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib...	ORPHA:988
Fibular Aplasia-Complex Brachydactyly Syndrome	Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph...	ORPHA:2639
Non-Syndromic Genetic Deafness	Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch...	ORPHA:87884
Mungan Syndrome	Renal hypoplasia, Megaduodenum, Intestinal pseudo-obstruction, Abnormality of the autonomic nervo...	OMIM:611376
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the elbow, Radioulnar synostosis	ORPHA:3268
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Pfeiffer Syndrome Type 2	Broad hallux phalanx, Toe syndactyly, High palate, Cleft palate, Broad thumb, Small hand, Intesti...	ORPHA:93259
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, High palate, Cleft palate, Polydactyly, Hypoplastic scapulae, Post...	OMIM:614091
Volvulus Of Midgut	Neonatal intestinal obstruction, Abdominal distention, Volvulus, Intestinal malrotation, Constipa...	OMIM:193250
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Anal atresia	ORPHA:3469
Phocomelia, Schinzel Type	Meningocele, High, narrow palate, Micrognathia, Cleft palate, Hand oligodactyly, Fibular aplasia,...	ORPHA:2879
Igg4-Related Retroperitoneal Fibrosis	Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,...	ORPHA:49041
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	Cutaneous finger syndactyly, Penoscrotal hypospadias, Swan neck-like deformities of the fingers, ...	ORPHA:329252
Renal Tubular Dysgenesis	Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy, Microcephaly	ORPHA:3033
Adams-Oliver Syndrome 6	Renal hypoplasia, Esophageal varix, Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the upper limb, Clinodactyly of the 3rd toe, Oligodactyly, Clinodactyly of the 5th...	ORPHA:521308
Spastic Paraplegia 9A, Autosomal Dominant	Urinary urgency, Urinary incontinence, Hiatus hernia, Abnormality of pelvic girdle bone morpholog...	OMIM:601162
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Cleft palate, Ectopic anus, Anencephaly, Aplasia/Hypoplasia of the radius, Spina bifida	ORPHA:2476
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis, Conductive hearing impairment, Rocker bottom foot, Congenital hip dislocation, ...	OMIM:133705
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Hearing abnormality, Multicystic kidney dysplasia, Protruding ear, Radioulnar synostosis	ORPHA:3270
Bardet-Biedl Syndrome 4	Polydactyly, Renal cyst, Syndactyly, Abnormality of the kidney, Brachydactyly	OMIM:615982
Distal Monosomy 10P	Micrognathia, Cleft palate, Ectopic anus, Abnormality of the elbow, Anal atresia, Bilateral singl...	ORPHA:1580
Pallister-Hall Syndrome	Cleft palate, Neonatal death, Microglossia, Distal shortening of limbs, Micropenis, Syndactyly, E...	OMIM:146510
Waardenburg-Shah Syndrome	Abnormal intestine morphology, Aganglionic megacolon, Hearing impairment, Intestinal obstruction,...	ORPHA:897
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Micrognathia, High palate, Feeding difficulties, Short foot, Micro...	OMIM:248910
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ...	OMIM:266600
Bardet-Biedl Syndrome 3	Renal hypoplasia, Brachydactyly, Postaxial polydactyly	OMIM:600151
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Cleft palate, Bilateral conductive hearing impairment, Abnormality of the wris...	ORPHA:2010
Weyers Ulnar Ray/Oligodactyly Syndrome	Micrognathia, High palate, Cleft palate, Hand oligodactyly, Proximal radial head dislocation, Hyd...	OMIM:602418
Schisis Association	Cleft palate, Anencephaly, Anal atresia, Spina bifida, Tracheoesophageal fistula, Micromelia	ORPHA:63862
Craniosynostosis, Philadelphia Type	Craniosynostosis, Finger syndactyly	ORPHA:1527
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ...	ORPHA:85450
Distal Monosomy 13Q	Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Anal atresia, Abnormality of the...	ORPHA:1590
Joubert Syndrome 22	Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:615665
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Conductive hearing impairment, Micrognathia, Abnormality of the pinna, Bilateral conductive heari...	OMIM:128980
Otopalatodigital Syndrome, Type I	Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Absent fronta...	OMIM:311300
Pfeiffer Syndrome Type 3	Broad hallux phalanx, Toe syndactyly, High palate, Cleft palate, Horseshoe kidney, Hydronephrosis...	ORPHA:93260
Microcephaly-Micromelia Syndrome	Micrognathia, Cleft palate, Talipes equinovarus, Humeroradial synostosis, Craniosynostosis, Absen...	OMIM:251230
Fanconi Anemia, Complementation Group I	Conductive hearing impairment, Horseshoe kidney, Renal hypoplasia, Optic nerve hypoplasia, Hypopl...	OMIM:609053
Tenosynovial Giant Cell Tumor	Synovial hypertrophy, Conductive hearing impairment, Abnormal hip joint morphology, Abnormality o...	ORPHA:66627
Sirenomelia	Sirenomelia, Aplasia/Hypoplasia of the radius, Absence of the sacrum, Anal atresia, Spina bifida,...	ORPHA:3169
Even-Plus Syndrome	Renal hypoplasia, High palate, Dysplasia of the femoral head, Epiphyseal dysplasia, Anal atresia,...	OMIM:616854
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Renal hypoplasia, Feeding difficulties, Sensorineural hearing impairment, Vesicoureteral reflux, ...	ORPHA:464288
Thymic Aplasia With Fetal Death	Ureteral agenesis, Renal agenesis, Stillbirth	OMIM:274210
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Craniodiaphyseal Dysplasia	Conductive hearing impairment, Diaphyseal thickening, Optic atrophy, Stenosis of the external aud...	ORPHA:1513
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Dysphagia, High palate, Feeding difficulties, Gastrostomy tube feeding...	OMIM:617519
Isolated Klippel-Feil Syndrome	Cleft palate, Ectopic anus, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral ...	ORPHA:2345
Blepharo-Cheilo-Odontic Syndrome	Bilateral cleft lip and palate, Finger syndactyly, Anal atresia	ORPHA:1997
Multicentric Carpotarsal Osteolysis Syndrome	Micrognathia, Wrist swelling, Metatarsal osteolysis, Ulnar deviation of the hand, Ulnar deviation...	OMIM:166300
Feingold Syndrome Type 2	Toe syndactyly, Short middle phalanx of finger, Jejunal atresia, Short thumb, Brachydactyly	ORPHA:391646
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Cleft palate, Triphalangeal thumb, Ectopic anus, Aplasia/Hypoplasi...	ORPHA:2549
Bladder Exstrophy And Epispadias Complex	Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias	OMIM:600057
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Feeding difficulties, Renal tubular acidosis, Renal dysplasia, Renal cyst, Hear...	OMIM:614922
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Tal...	OMIM:601382
Baller-Gerold Syndrome	Conductive hearing impairment, Hydronephrosis, High palate, Cleft palate, Abnormality of the uret...	ORPHA:1225
Summitt Syndrome	Craniosynostosis, Syndactyly	OMIM:272350
Congenital Megacalycosis	Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol...	ORPHA:93109
Cat-Eye Syndrome	Hydronephrosis, Hip dysplasia, Anal atresia	ORPHA:195
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Chronic tubulointerstitial nephritis, Short iliac bones, Metaphyseal widening, ...	OMIM:614376
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Abnormality of the middle ...	OMIM:221300
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Duodenal atresia, Hypoplasia of the radius, Absent thumb, Abnormality of radial...	OMIM:617784
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Horseshoe kidney, Conductive hearing impairment, Cone-shaped epiphysis, Congen...	OMIM:157800
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly	2-3 toe syndactyly, 2-4 finger syndactyly	OMIM:227210
Chopra-Amiel-Gordon Syndrome	Microcephaly, Unilateral renal agenesis	OMIM:619504
Branchiootorenal Syndrome 1	Cleft palate, Dilatated internal auditory canal, Cholesteatoma, Renal dysplasia, Incomplete parti...	OMIM:113650
Platyspondylic Dysplasia, Torrance Type	Abnormality of the carpal bones, Genu varum, Cleft palate, Hypoplastic scapulae, Abdominal disten...	ORPHA:85166
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger...	ORPHA:1113
Hypertelorism, Microtia, Facial Clefting Syndrome	Conductive hearing impairment, 2-3 toe syndactyly, Cleft palate, Micrognathia, Atresia of the ext...	OMIM:239800
Gordon Syndrome	Cleft palate, High palate, Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th fi...	ORPHA:376
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Ectopic kidney, Secondary microcephaly, Abnormality of the kidney	OMIM:613730
Emanuel Syndrome	Renal hypoplasia, Micrognathia, High palate, Cleft palate, Renal agenesis, Feeding difficulties, ...	OMIM:609029
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Hadziselimovic Syndrome	Renal hypoplasia, High palate, Posteriorly rotated ears, Anal atresia, Low-set ears	OMIM:612946
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis, Decreased response to growth...	OMIM:609757
Holt-Oram Syndrome	Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp...	OMIM:142900
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy	ORPHA:1909
Papillorenal Syndrome	Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron...	OMIM:120330
Robinow Syndrome, Autosomal Dominant 2	Conductive hearing impairment, Micrognathia, Cleft soft palate, Hearing impairment, Sensorineural...	OMIM:616331
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Hand monodactyly, Split foot, Split hand	OMIM:183800
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency	Patent ductus arteriosus, Unilateral renal agenesis	OMIM:608406
Carney-Stratakis Syndrome	Dysphagia, Gastrointestinal stroma tumor, Hearing impairment, Intestinal obstruction, Gastrointes...	ORPHA:97286
Congenital Hypothyroidism	Optic atrophy, Feeding difficulties in infancy, Macroglossia, Abnormality of epiphysis morphology...	ORPHA:442
Rhombencephalosynapsis	Aganglionic megacolon, Polydactyly, Short phalanx of finger, Esophageal atresia, Anal atresia, Fi...	ORPHA:59315
Meckel Syndrome 12	Renal hypoplasia, Micrognathia, Renal agenesis, Rocker bottom foot, Bifid uvula, Ureteral hypopla...	OMIM:616258
Cutis Laxa, Autosomal Dominant 3	Microcephaly, Unilateral renal agenesis	OMIM:616603
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Cleft palate, Split hand, Split foot	OMIM:183700
Feingold Syndrome Type 1	2-3 toe syndactyly, Short middle phalanx of finger, Duodenal atresia, Renal dysplasia, Conductive...	ORPHA:391641
Ivic Syndrome	Triphalangeal thumb, Rectovaginal fistula, Aplastic clavicle, Synostosis of carpal bones, Hypopla...	ORPHA:2307
Juberg-Hayward Syndrome	Hypospadias, Toe syndactyly, Horseshoe kidney, Abnormality of the elbow, Hammertoe, Hypoplasia of...	ORPHA:2319
Microcephaly 20, Primary, Autosomal Recessive	Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia	OMIM:617914
Cloacal Exstrophy	Horseshoe kidney, Myelomeningocele, Talipes equinovarus, Hypoplasia of penis, Hydroureter, Absent...	ORPHA:93929
Infantile Myofibromatosis	Abnormal intestine morphology, Chondrocalcinosis, Abnormality of the metaphysis, Intestinal obstr...	ORPHA:2591
Congenital Disorder Of Glycosylation, Type Iil	Abnormal cortical gyration, Death in infancy, Proximal tubulopathy, Patent ductus arteriosus, Uni...	OMIM:614576
Brachydactyly, Type B1	Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Broad thumb, Joint...	OMIM:113000
Townes-Brocks Syndrome 1	Hypospadias, 2-3 toe syndactyly, Triphalangeal thumb, Duodenal atresia, Renal dysplasia, Short me...	OMIM:107480
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Dysphagia, High palate, Hydronephrosis, Optic atrophy, Micrognathia, Congenital...	OMIM:617913
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Conductive hearing impairment, Polydactyly, Hypoplastic ischia, Low-set ears	OMIM:616910
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Toe syndactyly, Broad thumb, Craniosynostosis, Finger syndactyly, Hydroceph...	ORPHA:380
Distal Trisomy 15Q	Micrognathia, High palate, Arachnodactyly, Anal atresia, Camptodactyly of finger	ORPHA:1707
Fanconi Anemia, Complementation Group L	Renal hypoplasia, Cleft palate, Esophageal atresia, Anal atresia, Micropenis, Tracheoesophageal f...	OMIM:614083
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Hearing impairment, Synostosis of joints, Brachydactyly, Abnormality of ...	ORPHA:2496
Ritscher-Schinzel Syndrome 1	Hypospadias, Micrognathia, Cleft palate, Hydronephrosis, Missing ribs, Anal atresia, Syndactyly, ...	OMIM:220210
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb...	ORPHA:2141
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal...	ORPHA:370010
Multiple Osteochondromas	Short lower limbs, Abnormality of the knee, Abnormal lower limb bone morphology, Femoroacetabular...	ORPHA:321
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone...	ORPHA:2634
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Conductive hearing impairment, Duodenal atresia, Pelvic kidney, Hypoplasia of t...	OMIM:603467
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Renal agenesis, Ureteral dysgenesis	OMIM:274265
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects	Micrognathia, Anal atresia, Absent radius, Aplasia of the 1st metacarpal, Vesicoureteral reflux, ...	OMIM:600123
Pseudomyxoma Peritonei	Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,...	ORPHA:26790
Congenital Primary Megaureter	Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin...	ORPHA:617
Fanconi Anemia, Complementation Group D1	Short thumb, Anal atresia	OMIM:605724
Auriculocondylar Syndrome 3	Question mark ear, Micrognathia, Bifid uvula, Glossoptosis, Bilateral conductive hearing impairme...	OMIM:615706
Cleft Velum	Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis ...	ORPHA:99772
Van Maldergem Syndrome 1	Hypospadias, Renal hypoplasia, Conductive hearing impairment, High palate, Cutaneous finger synda...	OMIM:601390
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Conductive hearing impairment, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Micrognathia,...	ORPHA:3082
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Split ...	DECIPHER:46
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Ulnar-Mammary Syndrome	Pyloric stenosis, Renal hypoplasia, Ectopic anus, Hypoplasia of penis, Aplasia/Hypoplasia of the ...	ORPHA:3138
Simpson-Golabi-Behmel Syndrome, Type 2	Broad palm, High palate, Cleft palate, Talipes equinovarus, Tapered finger, Short finger, Posteri...	OMIM:300209
Renal Agenesis	Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U...	ORPHA:411709
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Hypothalamic gonadotropin-releasing hormone deficiency, Olfactory lobe agenesis, Unil...	OMIM:308750
Inverted Duplicated Chromosome 15 Syndrome	Microcephaly, Unilateral renal agenesis	ORPHA:3306
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment, Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of fi...	OMIM:132450
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Abnormality of femur morphology, Abnormality of the knee, Abnormality of the upper ...	ORPHA:2063
Mesomelic Dysplasia, Nievergelt Type	Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ...	ORPHA:2633
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Micrognathia, High palate, Cleft palate, Aplasia/Hypoplasia of the...	ORPHA:989
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Spindle-shaped finger, Delayed epiphyseal ossification, Genu valgum, Enlarged joints, Cutaneous s...	ORPHA:166024
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Familial Expansile Osteolysis	Conductive hearing impairment, Hydroxyprolinuria, Bowing of the long bones	OMIM:174810
Fatco Syndrome	Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ...	ORPHA:2492
Mucolipidosis Ii Alpha/Beta	Hypoplasia of the odontoid process, Mucopolysacchariduria, Talipes equinovarus, Hypoplastic scapu...	OMIM:252500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia, Micrognathia, Macrotia, Hearing impairment, Sensorineural hearing impairment, D...	OMIM:616817
Cornelia De Lange Syndrome 1	Pyloric stenosis, Hypospadias, 2-3 toe syndactyly, Cleft palate, Single transverse palmar crease,...	OMIM:122470
Braddock Syndrome	Unilateral renal agenesis	ORPHA:52047
Otofaciocervical Syndrome	Conductive hearing impairment, High palate, Macrotia, Renal hypoplasia/aplasia, Down-sloping shou...	ORPHA:2792
Acromesomelic Dysplasia, Grebe Type	Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,...	ORPHA:2098
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus, Anal atresia	OMIM:222748
Meckel Syndrome, Type 10	Hypospadias, Cleft palate, Postaxial polydactyly, Renal cyst, Abnormality of the pinna, Micropenis	OMIM:614175
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, 2-3 toe syndactyly, Micrognathia, Sandal gap, Joint contracture of the 4th fing...	OMIM:618914
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Cubitus valgus, Disharmonious carpal bone, Genu valgum, Sensorineural hearing impairment, Slender...	OMIM:608154
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Cutaneous finger syndactyly, Hydronephrosis, Myelomeningocele, Split hand, Hydrocephalus, Uretera...	OMIM:183802
Bnar Syndrome	Anteriorly placed anus, Anal stenosis, Abnormality of the 5th toe	ORPHA:217266
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Aplasia/Hypoplasia of the thumb, Anal atresia, Absent radius, Aplasia of the 1st me...	ORPHA:1352
Severe Generalized Junctional Epidermolysis Bullosa	Ureteral obstruction, Hydronephrosis, Urinary retention, Aplasia/Hypoplasia of the bladder, Dysur...	ORPHA:79404
Multiple Synostoses Syndrome 1	Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit...	OMIM:186500
Distal Trisomy 6P	Renal hypoplasia, Hydronephrosis, Micrognathia, Abnormal antitragus morphology, Abnormality of th...	ORPHA:1745
Peroxisome Biogenesis Disorder 3A (Zellweger)	Low-set ears, Feeding difficulties in infancy, Polycystic kidney dysplasia, Epiphyseal stippling	OMIM:614859
Van Maldergem Syndrome 2	Hypospadias, Renal hypoplasia, Conductive hearing impairment, High palate, Cutaneous finger synda...	OMIM:615546
Sanjad-Sakati Syndrome	Micrognathia, Low-set, posteriorly rotated ears, Small hand, Intestinal obstruction, Short foot, ...	ORPHA:2323
Cleft Palate, Deafness, And Oligodontia	Cleft soft palate, Short hallux, Sandal gap, Bilateral conductive hearing impairment	OMIM:216300
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hypospadias, Horseshoe kidney, Dysplastic corpus callosum, Patent ductus arteriosus, Recurrent ur...	ORPHA:363444
Rhyns Syndrome	Conductive hearing impairment, Radial bowing, Nephronophthisis, Chronic kidney disease, Short fem...	OMIM:602152
Acrocapitofemoral Dysplasia	Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ...	OMIM:607778
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De...	OMIM:174000
Renal Cysts And Diabetes Syndrome	Hypospadias, Renal hypoplasia, Renal cyst, Nephrolithiasis, Glycosuria, Stage 5 chronic kidney di...	OMIM:137920
Ethylene Glycol Poisoning	Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithelial necrosis, ...	ORPHA:31826
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Chronic otitis media, Conductive hearing impairment, Clinodactyly of the 5th finger, Atresia of t...	OMIM:221320
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Conductive hearing impairment, Radial club hand, Abnormal antitragus morphology, Aplasia/Hypoplas...	ORPHA:2878
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Metaphyseal dysplasia, Epiphyseal dysplasia, Dislocated radial head, Anal atresia, Brachydactyly,...	OMIM:617425
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Anteverted ears, Renal dysplasia, Hearing impairment, Micropenis, Absence of renal corticomedulla...	OMIM:617641
Marden-Walker Syndrome	Pyloric stenosis, High, narrow palate, Hypospadias, High palate, Cleft palate, Renal hypoplasia, ...	OMIM:248700
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Macrotia, Posteriorly rotated ears, Brachydactyly, Delayed ossification of carpal bones	OMIM:618392
Summitt Syndrome	Craniosynostosis, Finger syndactyly, Genu valgum, Camptodactyly of finger, Short palm, Prominent ...	ORPHA:3210
Mckusick-Kaufman Syndrome	Tarsal synostosis, Hydronephrosis, High palate, Cleft palate, Ectopic anus, Aganglionic megacolon...	ORPHA:2473
Anus, Imperforate	Anal atresia	OMIM:207500
Deafness And Myopia	Profound hearing impairment, Conductive hearing impairment, Hematuria, Proteinuria	OMIM:221200
Abcd Syndrome	Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment	OMIM:600501
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot...	ORPHA:320401
15Q24 Microdeletion Syndrome	Hypospadias, Myelomeningocele, Small hand, Proximal placement of thumb, Abnormality of toe, Anal ...	ORPHA:94065
Acro-Renal-Ocular Syndrome	Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ab...	ORPHA:959
Axial Mesodermal Dysplasia Spectrum	Abnormal intestine morphology, Micrognathia, Abnormality of the ureter, Abnormality of the knee, ...	ORPHA:1834
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Conductive hearing impairment, Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd...	OMIM:171480
Frontometaphyseal Dysplasia	Cleft palate, Short metatarsal, Joint contracture of the hand, Hearing impairment, Progressive bo...	ORPHA:1826
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Bifid sternum, Anal atresia, Cervical spina bifida, S...	ORPHA:63260
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia	ORPHA:3032
Femoral-Facial Syndrome	Micrognathia, Cleft palate, Long penis, Talipes equinovarus, Abnormality of pelvic girdle bone mo...	ORPHA:1988
Aplasia Cutis Congenita	Toe syndactyly, Spinal dysraphism, Finger syndactyly	ORPHA:1114
Cat-Eye Syndrome (Type I)	Micrognathia, Anal atresia	DECIPHER:42
Ophthalmomandibulomelic Dysplasia	Aplasia/Hypoplasia of the radius, Symphalangism affecting the phalanges of the hand, Radioulnar d...	ORPHA:2741
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Cleft palate, Triphalangeal thumb, Ectopic anus, Arachnodactyly, Finger syndactyly, Short distal ...	ORPHA:2994
Otopalatodigital Syndrome Type 1	Cleft palate, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of ...	ORPHA:90650
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Syndactyly, Camptodactyly, Joint contracture of the hand, Split hand	OMIM:225280
Coach Syndrome 1	Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic kidney diseas...	OMIM:216360
Emanuel Syndrome	Renal hypoplasia, Dysphagia, High palate, Cleft palate, Ectopic anus, Micrognathia, Feeding diffi...	ORPHA:96170
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger...	OMIM:112450
Isolated Polycystic Liver Disease	Feeding difficulties in infancy, Abdominal distention, Gastrointestinal hemorrhage, Multiple rena...	ORPHA:2924
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Aganglionic megacolon, Anal atresia	OMIM:235760
Prune Belly Syndrome	Abnormality of the ureter, Talipes equinovarus, Congenital posterior urethral valve, Hydroureter,...	ORPHA:2970
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Abnormal intestine morphology, Vomiting, Malabsorption, Clubbing, Intestinal obstruction, Clubbin...	OMIM:226300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Micrognathia, High palate, Cleft palate, Microretrognathia, Knee dislocation, Small epiphyses, He...	OMIM:618363
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Ectopic kidney, Abnormality of the kidney, Unilateral renal agenesis	ORPHA:3109
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Cleft palate, Renal cyst, Low-set ears	OMIM:231060
Caudal Regression Sequence	Arrhinencephaly, Abnormality of the ureter, Ureteral duplication, Talipes equinovarus, Abnormal v...	ORPHA:3027
Bor Syndrome	Enlarged cochlear aqueduct, Hydronephrosis, Cleft palate, Hypoplasia of the cochlea, Facial palsy...	ORPHA:107
Prune Belly Syndrome	Urethral valve, Hydronephrosis, Talipes equinovarus, Congenital posterior urethral valve, Xerosto...	OMIM:100100
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypospadias, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis, Microcephaly	ORPHA:1046
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Micrognathia, Renal dysplasia, Sensorineural hearing impairment, Low-set ears, ...	ORPHA:85321
Waardenburg Syndrome	Conductive hearing impairment, Aganglionic megacolon, Myelomeningocele, Hearing impairment, Intes...	ORPHA:3440
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Hypothalamic gonadotropin-releasing hormone deficiency, Olfactory lobe agenesis, Unil...	OMIM:308700
Stapes Ankylosis With Broad Thumbs And Toes	Conductive hearing impairment, Toe syndactyly, Congenital stapes ankylosis, Fused cervical verteb...	OMIM:184460
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Mesomelic arm shortening, Short...	OMIM:609616
Nephronophthisis 16	Nephronophthisis, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal insufficiency, Enl...	OMIM:615382
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Renal hypoplasia, Cleft palate, Bifid uvula, Absence of the sacrum, Sensorineural hearing impairm...	OMIM:617660
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Focal segmental glomerulosclerosis, Renal cyst, Nephropathy	OMIM:617056
Meier-Gorlin Syndrome 7	Hypospadias, 2-3 toe syndactyly, High palate, Cleft palate, Aplasia/Hypoplasia of the patella, Du...	OMIM:617063
3C Syndrome	Hypospadias, High, narrow palate, Micrognathia, Cleft palate, Hydronephrosis, Ectopic anus, Hypop...	ORPHA:7
Fraser Syndrome 2	Renal hypoplasia, Renal agenesis, Aplasia of the bladder, Abdominal distention, Cutaneous syndactyly	OMIM:617666
Camptobrachydactyly	Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca...	ORPHA:1319
Chromosome 17Q12 Deletion Syndrome	Upper limb undergrowth, Hypoplasia of the bladder, Unilateral renal agenesis, Protruding ear, Mic...	OMIM:614527
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
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Carpenter Syndrome 1	Genu varum, Hydroureter, Joint contracture of the hand, Deviation of finger, Shallow acetabular f...	OMIM:201000
Curry-Jones Syndrome	Cutaneous finger syndactyly, Broad thumb, Craniosynostosis, Intestinal malrotation, Anal stenosis...	OMIM:601707
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Sclerosteosis	Curved distal phalanges of the hand, 2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly	ORPHA:3152
Treacher Collins Syndrome 3	Conductive hearing impairment, Micrognathia, Cleft palate, Abnormality of the outer ear, Microtia	OMIM:248390
Renpenning Syndrome	Hypospadias, High, narrow palate, Cleft palate, Anal atresia, Abnormal thumb morphology, Clinodac...	ORPHA:3242
Cerebrofacioarticular Syndrome	Hypospadias, Renal hypoplasia, Feeding difficulties in infancy, Conductive hearing impairment, Mi...	ORPHA:314679
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati...	ORPHA:3332
Renal Dysplasia	Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin...	ORPHA:93108
Peroxisome Biogenesis Disorder 11A (Zellweger)	Polymicrogyria, Lissencephaly, Renal cyst, Multiple renal cysts	OMIM:614883
Odontochondrodysplasia 1	Irregular epiphyses, Small epiphyses, Genu varum, Metaphyseal cupping, Micromelia, Flared iliac w...	OMIM:184260
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Cleft palate, Postaxial polydactyly, Rhizomelia, Renal cyst, Macrotia, Short ri...	OMIM:616300
Cardiospondylocarpofacial Syndrome	High, narrow palate, Conductive hearing impairment, Synostosis of carpal bones, Short palm, Brach...	ORPHA:3238
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy	Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Elevated circulating...	OMIM:618419
Laurin-Sandrow Syndrome	Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo...	OMIM:135750
Seckel Syndrome 7	Abnormality of the carpal bones, Hip dysplasia, Clinodactyly, Madelung deformity	OMIM:614851
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	High palate, Cone-shaped epiphysis, Macroglossia, Nephronophthisis, Renal dysplasia, Craniosynost...	OMIM:266920
Oculocerebrodental Syndrome	Conductive hearing impairment, Metaphyseal dysplasia, Nephrocalcinosis, Short 5th finger, Hearing...	ORPHA:557003
Chromosome 13Q33-Q34 Deletion Syndrome	Pyloric stenosis, Hypospadias, Micrognathia, High palate, Penoscrotal transposition, Anencephaly,...	OMIM:619148
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Leukoencephalopathy, Renal cyst, Nephropathy, Renal insufficiency	OMIM:611773
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t...	OMIM:119100
Microgastria-Limb Reduction Defects Association	Cystic renal dysplasia, Horseshoe kidney, Arrhinencephaly, Pelvic kidney, Polymicrogyria, Porence...	OMIM:156810
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Unilateral renal agenesis, Hypoplasia of the corpu...	OMIM:308205
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Microcephaly, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux, Cerebral cor...	ORPHA:1166
Tibial Aplasia-Ectrodactyly Syndrome	Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split...	ORPHA:3329
Ulnar/Fibular Ray Defect And Brachydactyly	Toe syndactyly, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulnar hypoplasia, Bilatera...	OMIM:608571
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Neonatal death, Polycys...	OMIM:263200
Carpenter Syndrome	Toe syndactyly, Polydactyly, Talipes equinovarus, Craniosynostosis, Finger syndactyly, Genu valgu...	ORPHA:65759
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Dysphagia, Tubulointerstitial nephritis, Hematuria, Malabsorption, Arthritis...	ORPHA:183
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Vacterl/Vater Association	Hypospadias, Hydronephrosis, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius, Ectopic...	ORPHA:887
Acrocardiofacial Syndrome	Hypospadias, Hallux valgus, Toe syndactyly, Cleft palate, Joint dislocation, Finger syndactyly, F...	ORPHA:2008
Progeroid Facial Appearance With Hand Anomalies	Conductive hearing impairment, Cutaneous finger syndactyly, Long fingers, Arachnodactyly, Clinoda...	OMIM:602249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Anencephaly, Renal dysplasia, Renal cyst, Micropenis, Type II lissencephaly, Cort...	OMIM:615287
Familial Mediterranean Fever	Nausea and vomiting, Gastrointestinal infarctions, Nephrotic syndrome, Peritonitis, Nephrocalcino...	ORPHA:342
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Cleft palate, Triphalangeal thumb, Complete duplication of thumb p...	OMIM:141400
Terminal Osseous Dysplasia	Cleft palate, Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening...	OMIM:300244
Ossicular Malformations, Familial	Abnormality of the middle ear ossicles, Congenital conductive hearing impairment	OMIM:165680
Endove Syndrome, Limb-Only Type	Hydronephrosis, Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 f...	OMIM:619217
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Conductive hearing impairment, Micrognathia, High palate, Talipes equinovarus, Hypoplastic scapul...	OMIM:602471
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Toe syndactyly, Intestinal pseudo-obstruction, Fetal megacystis, Arachnodactyly, Finger syndactyl...	ORPHA:73246
Microphthalmia With Limb Anomalies	Toe syndactyly, High palate, Cleft palate, Hand oligodactyly, Talipes equinovarus, Tibial bowing,...	OMIM:206920
Joubert Syndrome 20	Syndactyly, Renal cyst, Postaxial polydactyly	OMIM:614970
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Hydronephrosis, Cleft palate, Micrognathia, Feeding difficulties, Renal cyst, P...	OMIM:618454
Distal Monosomy 10Q	Cleft palate, Short metatarsal, Enuresis, Prominent fingertip pads, Micrognathia, High palate, An...	ORPHA:96148
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Acrofacial Dysostosis, Rodríguez Type	Arrhinencephaly, Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnorm...	ORPHA:1788
Alagille Syndrome 2	Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency	OMIM:610205
Burkitt Lymphoma	Intestinal obstruction, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain	ORPHA:543
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Hydronephrosis, Aplasia/Hypoplasia of the radius, Intestinal malrotation, Anal atresia, Displacem...	ORPHA:2973
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	Genu varum, Fragmented epiphyses, Flat capital femoral epiphysis, Abnormal metatarsal morphology,...	ORPHA:93360
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Neonatal death, Hand oligodactyly	OMIM:276822
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand	OMIM:228250
Rubinstein-Taybi Syndrome 2	Micrognathia, High palate, Intestinal malrotation, Narrow palate, Syndactyly, Broad hallux, Broad...	OMIM:613684
Dwarfism With Stiff Joints And Ocular Abnormalities	Short lower limbs, Short phalanx of finger, Lower limb undergrowth, Delayed ossification of carpa...	OMIM:127200
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Conductive hearing impairment, Hallux valgus, Progressive cervical vertebral ...	OMIM:135100

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