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 (1485 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		Tracheoesophageal fistula, Anal atresia, Microtia, Rectoperineal fistula, 3-4 finger syndactyly, ...	OMIM:107480
Townes-Brocks Syndrome		Constipation, Overfolded helix, Ulnar deviation of finger, Anteriorly placed anus, Absent toe, An...	ORPHA:857

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

Disease	Matching phenotypes	Source
Radial Hemimelia	Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of...	ORPHA:93321
Liebenberg Syndrome	Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr...	OMIM:186550
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Craniosynostosis, Adelaide Type	Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal...	OMIM:600593
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b...	OMIM:182255
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas...	OMIM:610797
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment, Partial duplication of the distal phalanx of the hallux, Abnormali...	ORPHA:2669
Brachydactyly-Syndactyly Syndrome	Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin...	OMIM:610713
Talo-Patello-Scaphoid Osteolysis	Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of...	ORPHA:50809
Synpolydactyly 1	Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha...	OMIM:186000
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov...	OMIM:609655
Syndactyly Type 2	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect...	ORPHA:93403
Syndactyly, Type Iii	Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly	OMIM:186100
Banki Syndrome	Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp...	ORPHA:1228
Polydactyly, Preaxial Ii	Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ...	OMIM:174500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip...	OMIM:603546
Acheiropody	Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h...	OMIM:200500
Santos Syndrome	Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly...	OMIM:613005
Syndactyly Type 1	Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly	ORPHA:93402
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan...	OMIM:606895
Langer Mesomelic Dysplasia	Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me...	ORPHA:2632
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment, Symphalangism affecting the phalanges of the toes, Symphalangism o...	ORPHA:3246
Syndactyly, Type V	Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h...	OMIM:186300
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ...	OMIM:176240
Postaxial Tetramelic Oligodactyly	Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly	ORPHA:2730
Angel-Shaped Phalangoepiphyseal Dysplasia	Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis...	OMIM:105835
Pseudoachondroplasia	Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of...	OMIM:177170
Symphalangism With Multiple Anomalies Of Hands And Feet	Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em...	OMIM:185750
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ...	ORPHA:1891
Distal Symphalangism	Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the phalanges of the...	ORPHA:3248
Wahab Syndrome	Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal...	OMIM:615170
Hallux Varus And Preaxial Polysyndactyly	Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly	OMIM:234280
Congenital Radioulnar Synostosis	Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn...	ORPHA:3269
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Carpal bone aplasia, Syndactyly	OMIM:609428
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Occipital encephalocele	OMIM:614416
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia, Cleft palate, Hand polydactyly	OMIM:236110
Acrocephalopolysyndactyly Type Iv	Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th...	OMIM:201020
Ivic Syndrome	Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U...	OMIM:147750
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ...	OMIM:113100
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand	OMIM:612576
Absence Deformity Of Leg-Cataract Syndrome	Lower limb undergrowth, Abnormality of femur morphology, Abnormal epiphysis morphology, Anal atresia	ORPHA:2310
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pe...	OMIM:184252
Pierre Robin Syndrome And Oligodactyly	Micrognathia, Cleft palate, Hand oligodactyly	OMIM:172880
Multiple Synostoses Syndrome	Conductive hearing impairment, Cone-shaped epiphysis, Bilateral single transverse palmar creases,...	ORPHA:3237
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis	OMIM:256690
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Syndactyly Type 5	Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly...	ORPHA:93406
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the ankles, Cuboidal me...	ORPHA:968
Hirschsprung Disease	Sensorineural hearing impairment, Constipation, Abdominal pain, Adducted thumb, Diarrhea, Intesti...	ORPHA:388
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd...	ORPHA:157801
Split-Hand/Foot Malformation 6	Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly	OMIM:225300
Synpolydactyly 2	Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ...	OMIM:608180
Fanconi Anemia, Complementation Group O	Anal atresia, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Neonatal death, Rena...	OMIM:613390
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Patent ductus arteriosus, Death in infancy, ...	OMIM:618845
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas...	OMIM:617719
Polydactyly, Postaxial, Type A5	Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis	OMIM:263450
Orofaciodigital Syndrome Xvii	Low-set ears, High, narrow palate, Micropenis, Partial duplication of thumb phalanx, Prominent me...	OMIM:617926
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Absent scaphoid, Unilateral facial palsy, Ectopic kidney,...	OMIM:617247
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Distal Limb Deficiencies-Micrognathia Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, High palate, Microretrognathia, ...	ORPHA:1307
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o...	OMIM:607078
Renal Hypoplasia	Chronic kidney disease, Polydipsia, Unilateral renal agenesis, Abnormal renal tubule morphology, ...	ORPHA:93101
Syndactyly, Type Iv	2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,...	OMIM:186200
Acromesomelic Dysplasia 2C	Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr...	OMIM:201250
Split-Hand/Foot Malformation 1	Ectrodactyly, Hand oligodactyly, Split foot, Cleft palate, Syndactyly, Broad hallux, Triphalangea...	OMIM:183600
Crossed Polysyndactyly	Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly	ORPHA:2935
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Abnormal pinna morphology, Micrognathia, Syndactyly, Hypoplasia of the ulna, Mesomelia, Renal cys...	OMIM:228940
Tarsal-Carpal Coalition Syndrome	Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism...	OMIM:186570
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete...	OMIM:601331
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Bardet-Biedl Syndrome 10	Abnormality of the kidney, Renal cyst, Renal insufficiency	OMIM:615987
Congenital Absence Of Upper Arm And Forearm With Hand Present	Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Still...	ORPHA:294975
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Short femoral neck, Tapered f...	OMIM:618395
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis	ORPHA:71289
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal humeral metaphysis morphology, Premature osteoarthritis, Short distal phalanx of finger,...	ORPHA:93314
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo...	ORPHA:3104
Symphalangism, C. S. Lewis Type	Synostosis involving the 1st metacarpal	OMIM:185650
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn...	OMIM:609129
Leri-Weill Dyschondrosteosis	Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c...	OMIM:127300
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Metacarpal 4-5 Fusion	4-5 metacarpal synostosis	OMIM:309630
Autosomal Recessive Primary Microcephaly	Unilateral renal agenesis, Vesicoureteral reflux, Agenesis of corpus callosum	ORPHA:2512
Bardet-Biedl Syndrome 16	Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Recu...	OMIM:615993
Brachydactyly, Type A1	Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ...	OMIM:112500
Brachydactyly Type B2	Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone...	ORPHA:140908
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Constipation, High, narrow palate, Cleft palate, Gastroesophageal reflux, Renal ...	OMIM:618494
Juberg-Hayward Syndrome	Abnormality of toe, Limited elbow extension, Horseshoe kidney, Anteriorly placed anus, Abnormalit...	OMIM:216100
Leg, Absence Deformity Of, With Congenital Cataract	Anal atresia, Duplication involving bones of the feet	OMIM:246000
Brachydactyly Type B	Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda...	ORPHA:93383
Visceral Myopathy 2	Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en...	OMIM:619350
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Absent Radius-Anogenital Anomalies Syndrome	Ectrodactyly, Hydrocephalus, Anal atresia, Hypoplasia of the radius, Oligodactyly, Rectovaginal f...	ORPHA:3016
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Camptosynpolydactyly, Complex	Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly	OMIM:607539
Split-Hand/Foot Malformation 3	High palate, Abnormal pinna morphology, Microretrognathia, Cleft palate, Camptodactyly, Renal hyp...	OMIM:246560
Proximal Symphalangism	Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos...	ORPHA:3250
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Ulnar Hemimelia	Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia...	ORPHA:93320
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna, Renal...	OMIM:212780
Radial Aplasia, X-Linked	Penile hypospadias, Anal atresia, Hydrocephalus, Absent radius	OMIM:312190
Fibular Hemimelia	Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu...	ORPHA:93323
Isolated Split Hand-Split Foot Malformation	Split hand, Absent hand, Oligodactyly, Finger syndactyly	ORPHA:2440
Split-Hand/Foot Malformation 4	Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang...	OMIM:605289
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness	Metaphyseal irregularity, Broad phalanx, Metaphyseal dysplasia, Metaphyseal cupping, Coxa vara, S...	OMIM:250420
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Humero-Radio-Ulnar Synostosis	Abnormality of the upper urinary tract, Abnormality of the ureter	ORPHA:3266
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	High palate, Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, E...	OMIM:226980
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Reduced renal corticomedullary differentiation, Avascular necrosis of the capital femoral epiphys...	OMIM:611555
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S...	OMIM:185900
Acropectorovertebral Dysplasia	Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o...	OMIM:102510
Baller-Gerold Syndrome	High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagit...	OMIM:218600
Dyggve-Melchior-Clausen Syndrome, X-Linked	Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic sacrum, Avascular necr...	OMIM:304950
Hypouricemia, Renal, 1	Hyperuricosuria, Renal tubular epithelial necrosis, Acute kidney injury, Uric acid nephrolithiasis	OMIM:220150
Nephronophthisis 20	Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:617271
Vacterl Association With Hydrocephalus	Anal atresia, Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Renal hypoplasi...	OMIM:276950
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ...	ORPHA:228302
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Spondylometaphyseal Dysplasia, Algerian Type	Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,...	OMIM:184253
Spondyloepimetaphyseal Dysplasia, Irapa Type	Coxa vara, Short metacarpal, Osteoarthritis, Micromelia, Synostosis of carpal bones, Upper limb u...	ORPHA:93351
Brachydactyly Type A7	Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl...	ORPHA:93397
Renal Hypodysplasia/Aplasia 3	Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ...	OMIM:617805
Brachydactyly, Type A2	Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap...	OMIM:112600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	High palate, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the...	OMIM:276820
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb	OMIM:174200
Tibial Hemimelia	Cleft palate, Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux...	ORPHA:93322
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex	OMIM:601071
Pseudoachondroplasia	Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg...	ORPHA:750
Chromosome 2Q31.1 Duplication Syndrome	Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb	OMIM:613681
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, 11 pairs of ribs, Rhizomelia, Renal hypoplasia...	OMIM:617661
Dyggve-Melchior-Clausen Disease	Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge...	OMIM:223800
Syndactyly Type 4	Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ...	ORPHA:93405
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Short toe, Rhizo-meso-acromelic limb shortening, Short long bone...	OMIM:611717
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Anal atresia, Brachydactyly	ORPHA:1436
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda...	ORPHA:1275
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Cone-shaped epiphysi...	ORPHA:457395
Acromesomelic Dysplasia 2B	Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform...	OMIM:228900
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Protruding ear, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of t...	ORPHA:2256
Meier-Gorlin Syndrome 8	Micrognathia, Low-set ears, Renal hypoplasia, Microtia	OMIM:617564
Mesomelic Dysplasia, Kantaputra Type	Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis	OMIM:156232
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Postaxial hand polydactyly, Renal cyst, Preaxial foot polydactyly, Bilateral triphalangeal thumbs	OMIM:138790
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Microretrognathia, Cutan...	OMIM:236500
Verheij Syndrome	Feeding difficulties, Renal agenesis, Short 5th finger, Renal cyst, Renal hypoplasia, Clinodactyl...	OMIM:615583
Desmoid Tumor	Malabsorption, Abdominal pain, Desmoid tumors, Abnormality of the upper urinary tract, Intestinal...	ORPHA:873
Léri-Weill Dyschondrosteosis	Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn...	ORPHA:240
Peutz-Jeghers Syndrome	Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, A...	ORPHA:2869
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Anal atresia, Hydrocephalus, Urethral atresia, Tracheoesophageal fistula, Short humerus, Enlarged...	OMIM:314390
Ectrodactyly-Polydactyly Syndrome	Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th...	ORPHA:1892
Polycystic Kidney Disease 5	Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease	OMIM:617610
Orofaciodigital Syndrome Type 10	Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t...	ORPHA:2756
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ...	ORPHA:1986
Split-Hand/Foot Malformation 2	Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly	OMIM:313350
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact...	ORPHA:52056
Acrorenal Syndrome, Autosomal Recessive	Split hand, Split foot, Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency, Cli...	OMIM:201310
Deafness, Autosomal Dominant 23	Sensorineural hearing impairment, Conductive hearing impairment, Vesicoureteral reflux	OMIM:605192
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Multiple Synostoses Syndrome 2	Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ...	OMIM:610017
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala...	ORPHA:93409
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Optic disc coloboma, Renal dysplasia, Optic nerve dysplasia, Renal ...	ORPHA:1475
Rhyns Syndrome	Nephronophthisis, Hypoplastic ilia, Multicystic kidney dysplasia, Abnormal long bone morphology, ...	ORPHA:140976
Tetramelic Monodactyly	Split hand, Hand monodactyly, Foot monodactyly, Split foot	OMIM:187510
Blepharocheilodontic Syndrome 1	Anal atresia, Cutaneous syndactyly, Clinodactyly, Neural tube defect	OMIM:119580
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Genu varum, Irre...	OMIM:617974
Acrofacial Dysostosis Syndrome Of Rodriguez	High palate, Overlapping toe, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs of ribs, S...	OMIM:201170
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Oligodact...	ORPHA:521308
Thrombocytopenia-Absent Radius Syndrome	Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Hor...	OMIM:274000
Multiple Synostoses Syndrome 3	Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos...	OMIM:612961
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat...	OMIM:228930
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Hydranencephaly	OMIM:601355
Burn-Mckeown Syndrome	Conductive hearing impairment, Protruding ear, 2-3 toe syndactyly, Cleft palate, Unilateral renal...	OMIM:608572
Brachydactyly, Type B2	Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ...	OMIM:611377
Hanac Syndrome	Renal insufficiency, Hematuria, Multiple renal cysts	ORPHA:73229
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Feeding difficulties in infancy, Renal cyst, Low-set ears, Epiphyseal s...	OMIM:614870
Microgastria-Limb Reduction Defect Syndrome	Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Elbow dis...	ORPHA:2538
Cenani-Lenz Syndrome	High, narrow palate, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thum...	ORPHA:3258
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis	OMIM:618270
Symphalangism, Proximal, 1A	Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Aplasia/Hypoplasia of the mid...	OMIM:185800
Carnitine Palmitoyltransferase Ii Deficiency	Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephritis, Polycystic ...	ORPHA:157
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf...	OMIM:616515
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Genu valgum, Anal atresia, Hypoplasia of penis	ORPHA:1381
Bresek Syndrome	Protruding ear, Cleft palate, Optic nerve hypoplasia, Hypoplasia of the bladder, Renal dysplasia,...	ORPHA:85284
Abruzzo-Erickson Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Short toe, Cleft palate, Hypospa...	ORPHA:921
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Limited pronation/supination of forearm, Madelung deformity	DECIPHER:58
Say Syndrome	Short distal phalanx of finger, Cleft palate, Proximal renal tubular acidosis, Ulnar deviation of...	OMIM:181180
Fanconi Anemia, Complementation Group R	Anal atresia, Hydrocephalus	OMIM:617244
Mucolipidosis Iii Alpha/Beta	Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r...	OMIM:252600
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Postaxial hand polydactyly, Preaxial foot polydactyly, Triphalangeal thumb, Multicystic kidney dy...	ORPHA:2091
Schisis Association	Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Micromelia, Encephalocele, Sp...	ORPHA:63862
Synostoses, Tarsal, Carpal, And Digital	Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad...	OMIM:186400
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly, Micropenis	OMIM:615983
Acropectorovertebral Dysplasia	Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos...	ORPHA:957
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Microtia, Renal agenesis, Hypospadias, Micropenis, Craniosynostosis, Micrognathia, Radioulnar syn...	ORPHA:171839
Distal Monosomy 13Q	Anal atresia, Holoprosencephaly, Abnormality of the hand, Anencephaly, Abnormal metacarpal morpho...	ORPHA:1590
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl...	OMIM:609432
Anus, Imperforate	Ectopic anus, Hypospadias, Anal atresia	OMIM:301800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi...	OMIM:613092
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly	OMIM:610140
Lowe-Kohn-Cohen Syndrome	Anorectal anomaly, Anal atresia, Nephropathy	ORPHA:2408
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet	Hypoplasia of the ulna, Short finger, Syndactyly, Split foot	OMIM:314360
Arthrogryposis, Distal, Type 2B2	Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge...	OMIM:618435
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Short middle phalanx of finger, Anal atresia, Prominent metopic ridge	OMIM:309620
Femur-Fibula-Ulna Complex	Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal...	ORPHA:2019
Conductive Deafness-Malformed External Ear Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor...	ORPHA:3216
Achondroplasia	Conductive hearing impairment, Bowing of the legs, Trident hand, Flared metaphysis, Brachydactyly...	OMIM:100800
Orofaciodigital Syndrome Vi	High palate, Conductive hearing impairment, Mesoaxial hand polydactyly, Cleft palate, Postaxial p...	OMIM:277170
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe	OMIM:600384
Winchester Syndrome	Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy	OMIM:277950
Polydactyly, Preaxial Iv	1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy...	OMIM:174700
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Syndactyly, 2-4 toe syndactyly	OMIM:241000
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Osebold-Remondini Syndrome	Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short...	OMIM:112910
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac...	OMIM:246570
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Abnormality of the ureter	ORPHA:2487
Duane-Radial Ray Syndrome	Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Ana...	OMIM:607323
Feingold Syndrome 2	3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short middle phalanx of the 2nd finge...	OMIM:614326
Mesomelic Dysplasia, Kantaputra Type	Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Abnormality ...	ORPHA:1836
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Anal atresia, Midshaft hypospadias, Micrognathia, Camptodactyly of finger, Brachydac...	ORPHA:2863
Mungan Syndrome	Barrett esophagus, Abdominal pain, Abnormality of the autonomic nervous system, Hypoperistalsis, ...	OMIM:611376
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Anal atresia, Talipes equinovarus, Hypertrophy of the urinary bladder, Renal dysplasia, Renal hyp...	OMIM:601389
Hypertelorism-Microtia-Facial Clefting Syndrome	Conductive hearing impairment, Microtia, Crossed fused renal ectopia, Atresia of the external aud...	ORPHA:2213
Congenital Anomalies Of Kidney And Urinary Tract 2	Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti...	OMIM:143400
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa...	ORPHA:988
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the elbow, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis	ORPHA:3268
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Oligomeganephronia	Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesi...	ORPHA:2260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial...	ORPHA:228308
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ...	OMIM:613091
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Nephronophthisis 13	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu...	OMIM:614377
Non-Syndromic Genetic Deafness	Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari...	ORPHA:87884
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ectopic anus, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius, Spina bifida	ORPHA:2476
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Renal agenesis	OMIM:601076
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Xk Aprosencephaly Syndrome	Anal atresia, Abnormal morphology of the radius	ORPHA:3469
Volvulus Of Midgut	Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv...	OMIM:193250
Pfeiffer Syndrome Type 2	High palate, Anal atresia, Hydrocephalus, Aqueductal stenosis, Cleft palate, Small hand, Intestin...	ORPHA:93259
Klippel-Feil Syndrome 1, Autosomal Dominant	Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,...	OMIM:118100
Phocomelia, Schinzel Type	Aplasia of the ulna, Ectrodactyly, Anal atresia, Radial bowing, Hypoplasia of penis, Hand oligoda...	ORPHA:2879
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, High palate, Cleft palate, Postaxial polydactyly, Short ribs, Hyp...	OMIM:614091
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac...	ORPHA:2639
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia, Patent ductus arteriosus, Age...	OMIM:618142
Bardet-Biedl Syndrome 3	Renal hypoplasia, Brachydactyly, Postaxial polydactyly	OMIM:600151
Igg4-Related Retroperitoneal Fibrosis	Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter...	ORPHA:49041
Distal Monosomy 10P	Ectopic anus, Anal atresia, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Mi...	ORPHA:1580
Waardenburg-Shah Syndrome	Constipation, Abdominal pain, Intestinal obstruction, Hearing impairment, Abnormal intestine morp...	ORPHA:897
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, Renal cyst	OMIM:615982
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Hearing abnormality, Protruding ear, Multicystic kidney dysplasia, Radioulnar synostosis	ORPHA:3270
Weyers Ulnar Ray/Oligodactyly Syndrome	Aplasia/Hypoplasia of the ulna, High palate, Hand oligodactyly, Absent thumb, Hypoplasia of the r...	OMIM:602418
Inflammatory Bowel Disease (Crohn Disease) 1	Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru...	OMIM:266600
Even-Plus Syndrome	High palate, Epiphyseal dysplasia, Anal atresia, Microtia, Recurrent urinary tract infections, Re...	OMIM:616854
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Conductive hearing impairment, Congenital hip dislocation, Bilateral single transverse palmar cre...	OMIM:133705
Spastic Paraplegia 9A, Autosomal Dominant	Gastroesophageal reflux, Hiatus hernia, Urinary urgency, Carpal bone hypoplasia, Urinary incontin...	OMIM:601162
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Feeding difficulties,...	OMIM:248910
Pallister-Hall Syndrome	Cleft palate, Y-shaped metacarpals, Anteriorly placed anus, Radial head subluxation, Distal short...	OMIM:146510
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3316
Otopalatodigital Syndrome, Type I	Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon...	OMIM:311300
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Cleft palate, Bilateral conductive hearing impairment, Abnormality of the ankl...	ORPHA:2010
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Renal insufficiency	ORPHA:281090
Adams-Oliver Syndrome 6	Brachydactyly, Syndactyly, Renal hypoplasia, Esophageal varix, Foot oligodactyly	OMIM:616589
Blepharo-Cheilo-Odontic Syndrome	Bilateral cleft lip and palate, Anal atresia, Finger syndactyly	ORPHA:1997
Feingold Syndrome Type 2	Brachydactyly, Short middle phalanx of finger, Jejunal atresia, Short thumb, Toe syndactyly	ORPHA:391646
Hereditary Amyloidosis With Primary Renal Involvement	Dyspepsia, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Diarrhea, V...	ORPHA:85450
Isolated Klippel-Feil Syndrome	Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abnormal vertebral seg...	ORPHA:2345
Pfeiffer Syndrome Type 3	High palate, Anal atresia, Aqueductal stenosis, Cleft palate, Small hand, Intestinal malrotation,...	ORPHA:93260
Joubert Syndrome 22	Postaxial hand polydactyly, Renal hypoplasia, Postaxial foot polydactyly, 2-3 toe syndactyly	OMIM:615665
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Acetabular spurs, Chronic tubulointerstitial nephritis, Metaphyseal widening, Brachydactyly, Rhiz...	OMIM:614376
Craniodiaphyseal Dysplasia	Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy, Diaphyseal...	ORPHA:1513
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Micropenis	OMIM:244200
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Sensorineural hearing impairment, Feeding difficulties, Short fourth metatarsal, Brachydactyly, R...	ORPHA:464288
Tenosynovial Giant Cell Tumor	Conductive hearing impairment, Joint swelling, Abnormality of the auditory canal, Chondrocalcinos...	ORPHA:66627
Thymic Aplasia With Fetal Death	Renal agenesis, Stillbirth, Ureteral agenesis	OMIM:274210
Cat-Eye Syndrome	Anal atresia, Hip dysplasia, Hydronephrosis	ORPHA:195
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Metaphyseal cupping, Abdominal distention, Cleft palate, Micromel...	ORPHA:85166
Branchiootorenal Syndrome 1	High palate, Cleft palate, Congenital hip dislocation, Renal steatosis, Microtia, Unilateral rena...	OMIM:113650
Oculoauriculovertebral Spectrum With Radial Defects	Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os...	ORPHA:2549
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Fanconi Anemia, Complementation Group I	Conductive hearing impairment, Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Opti...	OMIM:609053
Baller-Gerold Syndrome	High palate, Conductive hearing impairment, Anal atresia, Aplasia/Hypoplasia of the thumb, Malabs...	ORPHA:1225
Congenital Megacalycosis	Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg...	ORPHA:93109
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias	OMIM:600057
Sirenomelia	Anal atresia, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Absence o...	ORPHA:3169
Summitt Syndrome	Syndactyly, Craniosynostosis	OMIM:272350
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Renal tubular acidosis, Feeding difficulties, Renal dysplasia, Renal cy...	OMIM:614922
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly	2-3 toe syndactyly, 2-4 finger syndactyly	OMIM:227210
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency	ORPHA:1909
Hypertelorism, Microtia, Facial Clefting Syndrome	Conductive hearing impairment, 2-3 toe syndactyly, Cleft palate, Microtia, Small thenar eminence,...	OMIM:239800
Gordon Syndrome	High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Finger syndac...	ORPHA:376
Microcephaly-Micromelia Syndrome	Forearm undergrowth, Talipes equinovarus, Cleft palate, Craniosynostosis, Short tibia, Micrognath...	OMIM:251230
Holt-Oram Syndrome	Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication...	OMIM:142900
Renal Tubular Dysgenesis	Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy	ORPHA:3033
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ...	ORPHA:1113
Ivic Syndrome	Anal atresia, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones, Ra...	ORPHA:2307
Hadziselimovic Syndrome	High palate, Anal atresia, Renal hypoplasia, Low-set ears, Posteriorly rotated ears	OMIM:612946
Rhombencephalosynapsis	Anal atresia, Hydrocephalus, Microretrognathia, Tracheoesophageal fistula, Polydactyly, Short pha...	ORPHA:59315
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split hand, Hand monodactyly, Split foot	OMIM:183800
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Patent ductus arteriosus, Recurrent urinary tract infections, Horsesho...	OMIM:613680
Meckel Syndrome 12	Ureteral hypoplasia, Renal agenesis, Micrognathia, Bifid uvula, Renal hypoplasia, Rocker bottom f...	OMIM:616258
Emanuel Syndrome	High palate, Anal atresia, Constipation, Gastroesophageal reflux, Cleft palate, Micropenis, Renal...	OMIM:609029
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Talipes equinovarus, Abnormal auditory evoked potentia...	OMIM:601382
Multiple Synostoses Syndrome 1	Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impairment, Symphalangis...	OMIM:186500
Carney-Stratakis Syndrome	Abdominal pain, Gastrointestinal stroma tumor, Tinnitus, Intestinal obstruction, Dysphagia, Gastr...	ORPHA:97286
Juberg-Hayward Syndrome	Abnormality of finger, Hypoplasia of the radius, Hypospadias, Radioulnar synostosis, Hammertoe, A...	ORPHA:2319
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Hyperechogenic kidneys	OMIM:617914
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Poor suck, Micrognathia, Camptodactyly, Renal hypoplasia, 3-Methylglutaconic acidu...	OMIM:604273
Congenital Hypothyroidism	Nephrolithiasis, Constipation, Abdominal distention, Macroglossia, Tracheoesophageal fistula, Opt...	ORPHA:442
Multiple Osteochondromas	Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Limi...	ORPHA:321
Feingold Syndrome Type 1	Horseshoe kidney, Anal atresia, Clinodactyly of the 5th finger, Micrognathia, Gastrointestinal at...	ORPHA:391641
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency	Unilateral renal agenesis, Patent ductus arteriosus	OMIM:608406
Cloacal Exstrophy	Myelomeningocele, Anal atresia, Talipes equinovarus, Hypoplasia of penis, Ureterocele, Intestinal...	ORPHA:93929
Distal Trisomy 15Q	High palate, Anal atresia, Arachnodactyly, Micrognathia, Camptodactyly of finger	ORPHA:1707
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, Absent brainstem auditory responses, High palate, EEG abnormali...	OMIM:617519
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly	OMIM:616890
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects	Anal atresia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Micrognathia, Hypoplasia o...	OMIM:600123
Infantile Myofibromatosis	Abnormality of the kidney, Tracheoesophageal fistula, Chondrocalcinosis, Intestinal obstruction, ...	ORPHA:2591
Split-Foot Deformity With Mandibulofacial Dysostosis	Cleft palate, Split foot, Micrognathia, Split hand, Toe syndactyly	OMIM:183700
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Delayed cranial suture closure, Sy...	OMIM:113000
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand ...	ORPHA:380
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum...	ORPHA:370010
Thymic-Renal-Anal-Lung Dysplasia	Renal agenesis, Ureteral dysgenesis, Ureteral agenesis	OMIM:274265
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Mesomelia-Synostoses Syndrome	Abnormality of femur morphology, Micromelia, Abnormality of the ankles, Abnormality of the humeru...	ORPHA:2496
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ...	ORPHA:2141
Fanconi Anemia, Complementation Group W	Hypoplasia of the radius, Duodenal atresia, Renal hypoplasia, Absent thumb	OMIM:617784
Fanconi Anemia, Complementation Group D1	Anal atresia, Short thumb	OMIM:605724
Auriculocondylar Syndrome 3	Stenosis of the external auditory canal, Micrognathia, Glossoptosis, Bilateral conductive hearing...	OMIM:615706
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	High palate, Gastroesophageal reflux, Aminoaciduria, Micrognathia, Congenital hip dislocation, Op...	OMIM:617913
Ritscher-Schinzel Syndrome 1	Anal atresia, Hydrocephalus, Cleft palate, Hypospadias, Micrognathia, Syndactyly, Missing ribs, H...	OMIM:220210
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Conductive hearing impairment, Hypospadias, Polydactyly, Hypoplastic ischia, Low-set ears	OMIM:616910
Van Maldergem Syndrome 1	Sensorineural hearing impairment, Conductive hearing impairment, Short clavicles, High palate, Ta...	OMIM:601390
Meckel Syndrome, Type 9	Multicystic kidney dysplasia, Occipital encephalocele	OMIM:614209
Simpson-Golabi-Behmel Syndrome, Type 2	High palate, Talipes equinovarus, Cleft palate, Micropenis, Congenital hip dislocation, Multicyst...	OMIM:300209
15Q24 Microdeletion Syndrome	Myelomeningocele, Anal atresia, Abnormality of toe, Intestinal atresia, Small hand, Hypospadias, ...	ORPHA:94065
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis	OMIM:609757
Pseudomyxoma Peritonei	Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea...	ORPHA:26790
Fanconi Anemia, Complementation Group F	Conductive hearing impairment, Duodenal atresia, Absent thumb, Microtia, Hypoplasia of the radius...	OMIM:603467
Deafness And Myopia	Conductive hearing impairment, Profound hearing impairment, Hematuria, Proteinuria	OMIM:221200
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of fingers, Clin...	ORPHA:3082
Ulnar-Mammary Syndrome	Aplasia/Hypoplasia of the ulna, Short distal phalanx of finger, Absent hand, Abnormality of finge...	ORPHA:3138
Congenital Primary Megaureter	Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina...	ORPHA:617
Cleft Velum	Conductive hearing impairment, Nasal regurgitation, Velopharyngeal insufficiency, Poor suck, Recu...	ORPHA:99772
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Cleft palate, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndac...	DECIPHER:46
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Hydronephrosis, Split hand, Cu...	OMIM:183802
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment, Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu...	OMIM:132450
Intellectual Developmental Disorder, Autosomal Dominant 36	Unilateral renal agenesis, Agenesis of corpus callosum	OMIM:616362
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	2-3 toe syndactyly, Joint contracture of the 4th finger, Small thenar eminence, Cupped ear, Micro...	OMIM:618914
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Caudal Regression Syndrome	Anal atresia, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovarus, ...	ORPHA:3027
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of femur morphology, Anal atresia, Narrow palate, Micrognathia, Abnormality of the up...	ORPHA:2063
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol...	ORPHA:2634
Hypoglossia-Hypodactyly Syndrome	Short distal phalanx of finger, High palate, Anal atresia, Aplasia/Hypoplasia of the tongue, Clef...	ORPHA:989
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age...	ORPHA:411709
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Conductive hearing impairment, Ectrodactyly, Microtia, Stenosis of the external auditory canal, U...	ORPHA:2878
Mesomelic Dysplasia, Nievergelt Type	Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,...	ORPHA:2633
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Ge...	ORPHA:166024
Acromesomelic Dysplasia, Grebe Type	Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S...	ORPHA:2098
Cornelia De Lange Syndrome 1	High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Otitis media, Hypo...	OMIM:122470
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Familial Expansile Osteolysis	Hydroxyprolinuria, Conductive hearing impairment, Bowing of the long bones	OMIM:174810
Peroxisome Biogenesis Disorder 3A (Zellweger)	Feeding difficulties in infancy, Low-set ears, Polycystic kidney dysplasia, Epiphyseal stippling	OMIM:614859
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Otofaciocervical Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Renal hypoplasia/ap...	ORPHA:2792
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sensorineural hearing impairment, Micrognathia, Down-sloping shoulders, Renal hypoplasia, Macroti...	OMIM:616817
Van Maldergem Syndrome 2	Sensorineural hearing impairment, Conductive hearing impairment, Short clavicles, High palate, Ta...	OMIM:615546
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sensorineural hearing impairment, Slender long bones with narrow diaphyses, Metaphyseal striation...	OMIM:608154
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anal atresia, Clinodactyly of the 5th finger, Micrognathia, Hypoplasia of the ulna, Anteriorly pl...	ORPHA:1352
Fatco Syndrome	Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis...	ORPHA:2492
Mucolipidosis Ii Alpha/Beta	Craniosynostosis, Bullet-shaped phalanges of the hand, Enlarged kidney, Varus deformity of humera...	OMIM:252500
Bnar Syndrome	Anal stenosis, Anteriorly placed anus, Abnormality of the 5th toe	ORPHA:217266
Dihydropyrimidinase Deficiency	Anal atresia, Talipes equinovarus, Short phalanx of finger	OMIM:222748
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys...	OMIM:607778
Craniorachischisis	Myelomeningocele, Anal atresia, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphis...	ORPHA:63260
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S...	OMIM:112450
Rhyns Syndrome	Conductive hearing impairment, Chronic kidney disease, Radial bowing, Nephronophthisis, Brachydac...	OMIM:602152
Tessadori-Van Haaften Neurodevelopmental Syndrome 1	Clinodactyly of the 5th finger, Absence of renal corticomedullary differentiation, Hepatic failur...	OMIM:619758
Summitt Syndrome	Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Prominent metopic ridg...	ORPHA:3210
Braddock Syndrome	Unilateral renal agenesis	ORPHA:52047
Joubert Syndrome 16	Renal cyst, Nephronophthisis, Encephalocele	OMIM:614465
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Bilateral renal atrophy, Metatarsal osteolysis, Micrognathia, Bilate...	OMIM:166300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Dislocated radial head, Epiphyseal dysplasia, Metaphyseal dysplasia, Delayed ossification of carp...	OMIM:617425
Ehlers-Danlos Syndrome, Classic-Like	Unilateral renal agenesis, Vesicoureteral reflux	OMIM:606408
Cleft Palate, Deafness, And Oligodontia	Sandal gap, Bilateral conductive hearing impairment, Short hallux, Cleft soft palate	OMIM:216300
Distal Trisomy 6P	Micrognathia, Abnormality of the urinary system, Renal hypoplasia, Abnormal antitragus morphology...	ORPHA:1745
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Brachydactyly, Posteriorly rotated ears, Macrotia	OMIM:618392
Marden-Walker Syndrome	High palate, Talipes equinovarus, Joint contracture of the hand, Cleft palate, Micropenis, Arachn...	OMIM:248700
Severe Generalized Junctional Epidermolysis Bullosa	Dysuria, Ureterocele, Hydroureter, Ureteral obstruction, Urethral stricture, Multicystic kidney d...	ORPHA:79404
Sanjad-Sakati Syndrome	Hypoplasia of penis, Small hand, Micrognathia, External ear malformation, Low-set, posteriorly ro...	ORPHA:2323
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po...	ORPHA:320401
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Atresia of the external auditory canal, Conductive hearing impairment, Clinodactyly of the 5th fi...	OMIM:221320
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Craniosynostosis, Cleft palate, Ureteral obstruction, Limitatio...	ORPHA:1826
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of th...	ORPHA:363444
Coach Syndrome 1	Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal cysts, En...	OMIM:216360
Mckusick-Kaufman Syndrome	Urogenital sinus anomaly, High palate, Ectopic anus, Anal atresia, Cleft palate, Glandular hyposp...	ORPHA:2473
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Abnormal pinna morphology, Absence of renal corticomedullary differentiation, Horseshoe kidney, F...	OMIM:617641
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ...	OMIM:174000
Hepatorenocardiac Degenerative Fibrosis	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal in...	OMIM:619902
Acro-Renal-Ocular Syndrome	Radial club hand, Optic disc coloboma, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Blad...	ORPHA:959
Vacterl/Vater Association	Anal atresia, Hypoplasia of penis, Cleft palate, Preaxial hand polydactyly, Hypospadias, Abnormal...	ORPHA:887
Anus, Imperforate	Anal atresia	OMIM:207500
Axial Mesodermal Dysplasia Spectrum	Anal atresia, Hydrocephalus, Gastroesophageal reflux, Morphological abnormality of the gastrointe...	ORPHA:1834
Nephronophthisis 16	Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Patent ductus arteriosus, Renal i...	OMIM:615382
Prune Belly Syndrome	Urogenital sinus anomaly, Anal atresia, Talipes equinovarus, Intestinal atresia, Intestinal malro...	ORPHA:2970
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis	ORPHA:3306
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Microt...	OMIM:171480
Cat-Eye Syndrome (Type I)	Micrognathia, Anal atresia	DECIPHER:42
Chromosome 13Q33-Q34 Deletion Syndrome	High palate, Overlapping toe, Anal atresia, Talipes equinovarus, Distally placed thumb, Micrognat...	OMIM:619148
Genitopalatocardiac Syndrome	Cleft palate, Hypospadias, Micrognathia, Renal cyst, Low-set ears	OMIM:231060
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	High palate, Advanced ossification of carpal bones, Microretrognathia, Knee dislocation, Cleft pa...	OMIM:618363
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Ectopic anus, Microretrognathia, Cleft palate, Arachnodactyly, Ca...	ORPHA:2994
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Cleft palate, Abnormal vertebral segmentation and fusion, Synosto...	ORPHA:90650
Meckel Syndrome, Type 11	Polycystic kidney dysplasia, Occipital encephalocele	OMIM:615397
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,...	ORPHA:2741
Meckel Syndrome, Type 10	Abnormal pinna morphology, Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Micr...	OMIM:614175
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co...	OMIM:128980
Isolated Polycystic Liver Disease	Abdominal distention, Gastroesophageal reflux, Abdominal pain, Multiple renal cysts, Feeding diff...	ORPHA:2924
Femoral-Facial Syndrome	Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft ...	ORPHA:1988
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Anal atresia, Aganglionic megacolon, Hydronephrosis	OMIM:235760
Bor Syndrome	Abnormality of the middle ear ossicles, Renal hypoplasia/aplasia, Cleft palate, Stenosis of the e...	ORPHA:107
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly	OMIM:225280
Emanuel Syndrome	High palate, Anal atresia, Ectopic anus, Severe hearing impairment, Constipation, Cleft palate, M...	ORPHA:96170
Waardenburg Syndrome	Myelomeningocele, Conductive hearing impairment, Aplasia/Hypoplasia of the colon, Abnormality of ...	ORPHA:3440
Prune Belly Syndrome	Anal atresia, Talipes equinovarus, Hydroureter, Congenital hip dislocation, Xerostomia, Hydroneph...	OMIM:100100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Malabsorption, Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Clubbing of fingers, A...	OMIM:226300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy	OMIM:617056
Townes-Brocks Syndrome 1	Tracheoesophageal fistula, Anal atresia, Microtia, Rectoperineal fistula, 3-4 finger syndactyly, ...	OMIM:107480
Ethylene Glycol Poisoning	Renal tubular dysfunction, Hematuria, Renal insufficiency, Decreased urine output, Renal tubular ...	ORPHA:31826
Aplasia Cutis Congenita	Spinal dysraphism, Finger syndactyly, Toe syndactyly	ORPHA:1114
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Hyperechogenic kidneys, Patent ductus arteriosus, Death in infancy, Pr...	OMIM:614576
Carpenter Syndrome 1	High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, O...	OMIM:201000
3C Syndrome	Ectopic anus, Anal atresia, Hydrocephalus, Gastroesophageal reflux, Hypoplasia of penis, Cleft pa...	ORPHA:7
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing...	OMIM:184460
Acrofacial Dysostosis, Rodríguez Type	Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Microretrognathia, Hand oligodactyly, Aquedu...	ORPHA:1788
Meier-Gorlin Syndrome 7	High palate, Bowing of the legs, Anal atresia, 2-3 toe syndactyly, Cleft palate, Craniosynostosis...	OMIM:617063
Seckel Syndrome 7	Clinodactyly, Hip dysplasia, Madelung deformity, Abnormal carpal morphology	OMIM:614851
Fraser Syndrome 2	Aplasia of the bladder, Abdominal distention, Renal agenesis, Cutaneous syndactyly, Renal hypoplasia	OMIM:617666
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ...	OMIM:609616
Renpenning Syndrome	Anal atresia, Clinodactyly of the 5th finger, High, narrow palate, Cleft palate, Hypospadias, Abn...	ORPHA:3242
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Abnormality of the kidney, Horseshoe kidney, Ectopic kidney	ORPHA:3109
Treacher Collins Syndrome 3	Conductive hearing impairment, Cleft palate, Microtia, Micrognathia, Abnormality of the outer ear	OMIM:248390
Camptobrachydactyly	Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum...	ORPHA:1319
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Genu recurvatum, Delayed...	OMIM:184260
Cerebrofacioarticular Syndrome	Conductive hearing impairment, Talipes equinovarus, Microtia, Hypospadias, Micrognathia, Syndacty...	ORPHA:314679
Sclerosteosis	2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand	ORPHA:3152
Trisomy 1Q	Anal atresia, Hydrocephalus, Microretrognathia, Cleft palate, Congenital megaureter, Arachnodacty...	ORPHA:261344
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Micropenis	OMIM:308750
Chromosome 17Q12 Deletion Syndrome	High palate, Ovarian cyst, Hypoplasia of the bladder, Upper limb undergrowth, Stage 5 chronic kid...	OMIM:614527
Renal Cysts And Diabetes Syndrome	Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, A...	OMIM:137920
Progeroid Facial Appearance With Hand Anomalies	Conductive hearing impairment, Protruding ear, Clinodactyly of the 5th finger, Arachnodactyly, Lo...	OMIM:602249
Renal Dysplasia	Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec...	ORPHA:93108
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Sensorineural hearing impairment, Hypoplasia of penis, Micrognathia, Renal dysplasia, Renal hypop...	ORPHA:85321
Papillorenal Syndrome	Nephrolithiasis, Sensorineural hearing impairment, Chronic kidney disease, Absence of renal corti...	OMIM:120330
Carpenter Syndrome	Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand pol...	ORPHA:65759
Chromosome 3Pter-P25 Deletion Syndrome	High palate, Overlapping toe, Anal atresia, Gastroesophageal reflux, Postaxial polydactyly, Micro...	OMIM:613792
Cardiospondylocarpofacial Syndrome	Conductive hearing impairment, High, narrow palate, Brachydactyly, Synostosis of carpal bones, Sh...	ORPHA:3238
Oculocerebrodental Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Metaphyseal dysplasia, Short 5th...	ORPHA:557003
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Cleft palate, Microtia, Short mandibular rami, Atresia of the exte...	OMIM:141400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Absence of renal corticomedullary differentiation, Neonatal death, Tubulointerstitial fibrosis, E...	OMIM:263200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Anal atresia, Unicoronal synostosis, Microretrognathia, Cleft palate, Postaxial polydactyly, Prea...	OMIM:616300
Acrocardiofacial Syndrome	Anal atresia, Joint dislocation, Hypoplasia of penis, Cleft palate, Split foot, Hypospadias, Camp...	ORPHA:2008
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	Epiphyseal dysplasia, Fragmented epiphyses, Metaphyseal irregularity, Flat capital femoral epiphy...	ORPHA:93360
Ulnar/Fibular Ray Defect And Brachydactyly	Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Unilateral ulnar hypoplasia...	OMIM:608571
Laurin-Sandrow Syndrome	Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F...	OMIM:135750
Curry-Jones Syndrome	Craniosynostosis, Intestinal malrotation, Cutaneous syndactyly of toes, Syndactyly, Duplication o...	OMIM:601707
Adams-Oliver Syndrome 3	Short distal phalanx of finger, 2-3 toe syndactyly, Absent toe, Short palm, Short metatarsal, Sho...	OMIM:614814
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Bifid uvula, Renal hypoplasia, Absence of the sacrum, Incomplet...	OMIM:617660
Fibrodysplasia Ossificans Progressiva	Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ...	OMIM:135100
Ossicular Malformations, Familial	Abnormality of the middle ear ossicles, Congenital conductive hearing impairment	OMIM:165680
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy...	OMIM:619217
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Protruding ear, Constipation, Arachnodactyly, Multicystic kidney dysplasia, Fetal megacystis, Int...	ORPHA:73246
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia...	ORPHA:3329
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Joubert Syndrome 20	Renal cyst, Syndactyly, Postaxial polydactyly	OMIM:614970
Eosinophilic Granulomatosis With Polyangiitis	Malabsorption, Gastroesophageal reflux, Abdominal pain, Hematuria, Arthritis, Intestinal obstruct...	ORPHA:183
Developmental Delay With Or Without Dysmorphic Facies And Autism	Clinodactyly of the 5th finger, Cleft palate, Feeding difficulties, Micrognathia, Hearing impairm...	OMIM:618454
Familial Mediterranean Fever	Malabsorption, Nephrotic syndrome, Constipation, Abdominal pain, Acute hepatic failure, Osteoarth...	ORPHA:342
Rubinstein-Taybi Syndrome 2	High palate, Narrow palate, Intestinal malrotation, Micrognathia, Syndactyly, Broad hallux, Broad...	OMIM:613684
Distal Monosomy 10Q	High palate, Prominent fingertip pads, Craniosynostosis, Cleft palate, Tapered finger, Single tra...	ORPHA:96148
Opitz-Kaveggia Syndrome	Hydrocephalus, Prominent fingertip pads, Cleft palate, Broad hallux, Single transverse palmar cre...	OMIM:305450
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the hand, Cleft palate, Aplasia/Hypop...	ORPHA:94066
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	High palate, Conductive hearing impairment, Dislocated radial head, Talipes equinovarus, Feeding ...	OMIM:602471
Burkitt Lymphoma	Intestinal obstruction, Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain	ORPHA:543
Microphthalmia With Limb Anomalies	High palate, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Cleft palate, Camptodactyly o...	OMIM:206920
Terminal Osseous Dysplasia	Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Campto...	OMIM:300244
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypospadias, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis	ORPHA:1046
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Urogenital sinus anomaly, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hydrou...	ORPHA:2973
Dwarfism With Stiff Joints And Ocular Abnormalities	Lower limb undergrowth, Delayed ossification of carpal bones, Short phalanx of finger, Short lowe...	OMIM:127200
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Neonatal death, Hand oligodactyly	OMIM:276822
Spondyloepimetaphyseal Dysplasia, Irapa Type	Coxa vara, Metaphyseal dysplasia, Osteoarthritis, Broad femoral neck, Upper limb undergrowth, Bro...	OMIM:271650
Meckel Syndrome 13	Polycystic kidney dysplasia, Occipital encephalocele	OMIM:617562
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Clinodactyly of the 5th finger, Finger syndactyly, Micrognathia, Cupped ear,...	ORPHA:264200
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia	OMIM:228250
Alagille Syndrome 2	Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria	OMIM:610205
Medullary cystic kidney disease 2	Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla...	OMIM:603860
Otopalatodigital Syndrome, Type Ii	Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hip dislocation, Rud...	OMIM:304120
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac...	OMIM:119100
Acrocraniofacial Dysostosis	Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Craniosynostosis, ...	OMIM:201050
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us