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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 (1483 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		Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger...	OMIM:107480
Townes-Brocks Syndrome		Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of...	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 trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ...	OMIM:610797
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Pseudoachondroplasia	Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fragmente...	OMIM:177170
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly	OMIM:614416
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Holzgreve Syndrome	Hand polydactyly, Renal agenesis, Renal hypoplasia, Cleft palate	OMIM:236110
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Absence Deformity Of Leg-Cataract Syndrome	Abnormal epiphysis morphology, Anal atresia, Abnormal femur morphology, Lower limb undergrowth	ORPHA:2310
Distal Symphalangism	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ...	ORPHA:3248
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared ...	OMIM:184252
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Hirschsprung Disease	Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Abdomin...	ORPHA:388
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilatera...	OMIM:618845
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-s...	OMIM:617926
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar...	OMIM:617247
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Rec...	OMIM:615993
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly	ORPHA:2935
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Microret...	ORPHA:1307
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,...	OMIM:613390
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph...	ORPHA:294975
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca...	OMIM:618395
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Cleft palate, Glossoptosis, Abnorma...	ORPHA:3104
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Agenesis of corpus callosum, Unilateral renal agenesis	ORPHA:2512
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Leg, Absence Deformity Of, With Congenital Cataract	Duplication involving bones of the feet, Anal atresia	OMIM:246000
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus	OMIM:615938
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Horseshoe k...	OMIM:216100
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Split hand, Renal hypoplasia, Cleft palate, High pa...	OMIM:246560
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar...	ORPHA:93323
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, Beta 2-microg...	OMIM:611555
Meier-Gorlin Syndrome 8	Micrognathia, Nephroptosis, Unilateral renal hypoplasia, Microtia, Low-set ears	OMIM:617564
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi...	OMIM:615996
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Symphalangism, C. S. Lewis Type	Synostosis involving the 1st metacarpal	OMIM:185650
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia	OMIM:312190
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Renal cyst	OMIM:614870
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Stillbirth,...	OMIM:276950
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo...	ORPHA:93351
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy...	OMIM:276820
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag...	ORPHA:3016
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Pseudoachondroplasia	Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Increased laxity of ankles...	ORPHA:750
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Anal atresia, Brachydactyly	ORPHA:1436
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Rhizomelia, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia...	OMIM:617661
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp...	ORPHA:873
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Deafness, Autosomal Dominant 23	Conductive hearing impairment, Sensorineural hearing impairment, Vesicoureteral reflux	OMIM:605192
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia ...	ORPHA:2256
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Clef...	ORPHA:2756
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla...	OMIM:201170
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab...	OMIM:617974
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Abnormal repetitive mannerisms, Unilateral renal agenesis, Attention deficit hyperact...	OMIM:618504
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S...	OMIM:218600
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of...	OMIM:274000
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Frontal encephalocele, Abnormality of the upper limb, Clinodactyly of th...	ORPHA:521308
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Burn-Mckeown Syndrome	Unilateral renal agenesis, Micrognathia, Feeding difficulties in infancy, Renal hypoplasia, 2-3 t...	OMIM:608572
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Coronal hypospadias, Sensorineural hearing impairment, Short toe, Ab...	ORPHA:921
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Proximal renal tubular acidosis,...	OMIM:181180
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Hypospadias, Anal atresia, Genu valgum	ORPHA:1381
Symphalangism, Proximal, 1A	Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange...	OMIM:185800
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea...	ORPHA:2091
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral bowing, Nar...	OMIM:616723
Bresek Syndrome	Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydact...	ORPHA:85284
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Schisis Association	Encephalocele, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, An...	ORPHA:63862
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe syndact...	OMIM:236500
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Anus, Imperforate	Ectopic anus, Hypospadias, Anal atresia	OMIM:301800
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Posteriorly rotated ears, Overlapping toe, Unilateral renal agenesis, H...	OMIM:618494
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Microgna...	ORPHA:171839
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Dihydropyrimidinase Deficiency	Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia	OMIM:222748
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Short middle phalanx of finger, Anal atresia	OMIM:309620
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Micrognathia, Ectopic kidney, H...	OMIM:212780
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Anorexia, Renovascular hypertension, Renal tubular epithelial necro...	ORPHA:49041
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Anal atresia, Cutaneous syndactyly	OMIM:119580
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Winchester Syndrome	Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis	OMIM:277950
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Unilateral renal agenesis	OMIM:601355
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Attention deficit hyperactivity disorder	ORPHA:281090
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc...	OMIM:601389
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Craniosynostosis, Humeroradial synostosis,...	OMIM:251230
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim...	OMIM:607323
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tra...	OMIM:314390
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Micrognathia, Midshaft hypospadias, High palate, Wormian bones, Anal atr...	ORPHA:2863
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Anencephaly, Holoprosenc...	ORPHA:1590
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H...	OMIM:613091
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Hypoperistalsis,...	OMIM:611376
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow	ORPHA:3268
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Feingold Syndrome 2	Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Intestinal atresia, Shor...	OMIM:614326
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Lowe-Kohn-Cohen Syndrome	Nephropathy, Anorectal anomaly, Anal atresia	ORPHA:2408
Hypertelorism-Microtia-Facial Clefting Syndrome	Thenar muscle atrophy, Horseshoe kidney, Microtia, Atresia of the external auditory canal, Conduc...	ORPHA:2213
Feingold Syndrome Type 2	Toe syndactyly, Jejunal atresia, Short thumb, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bil...	ORPHA:2260
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Mi...	ORPHA:2879
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly	OMIM:615982
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Phocomelia, Microgastria, Multicystic kidney dysplasia, Aplastic clav...	ORPHA:2538
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Self-biting, Abnormal repetitive m...	ORPHA:3306
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Anal atresia	ORPHA:3469
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Bardet-Biedl Syndrome 3	Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Joubert Syndrome 15	Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis	OMIM:614464
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Congenital hip dislocation, Rocker bottom foot, Single transverse palmar crease, Pyloric stenosis...	OMIM:133705
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Joubert Syndrome 20	Self-mutilation, Renal cyst, Aggressive behavior	OMIM:614970
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Micropenis...	OMIM:146510
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Unilateral renal agenesis, Patent ductus arteriosus, Micropenis, Age...	OMIM:618142
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Renal hypoplasia, Microtia, High palate...	OMIM:616854
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Distal Deletion 10P	Hypoplasia of penis, Micrognathia, Abnormality of the elbow, Cleft palate, Ectopic anus, Clinodac...	ORPHA:1580
Waardenburg-Shah Syndrome	Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Constipation, Abnormal intestine m...	ORPHA:897
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Micrognathia, Feeding difficulties, Short foot, Microtia, High palate, Clinodactyly of the 5th fi...	OMIM:248910
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli...	OMIM:614091
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Anal atresia, Bilateral cleft lip and palate	ORPHA:1997
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Hearing abnormality, Multicystic kidney dysplasia, Radioulnar synostosis, Protruding ear	ORPHA:3270
Isolated Klippel-Feil Syndrome	Spina bifida, Cleft palate, Abnormal shoulder morphology, Ectopic anus, Cervical C2/C3 vertebral ...	ORPHA:2345
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Abnormality of the middle ear ossic...	ORPHA:2549
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Conductive hear...	OMIM:311300
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa...	ORPHA:85450
Cat-Eye Syndrome	Hip dysplasia, Hydronephrosis, Anal atresia	ORPHA:195
Adams-Oliver Syndrome 6	Syndactyly, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Brachydactyly	OMIM:616589
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus	ORPHA:2476
Joubert Syndrome 22	Postaxial foot polydactyly, Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly	OMIM:615665
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Cleft palate, Bilateral conductive hearing impairment, Abnormality of the ankl...	ORPHA:2010
Branchiootorenal Syndrome 1	Congenital hip dislocation, High palate, Vesicoureteral reflux, Conductive hearing impairment, Bi...	OMIM:113650
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Craniodiaphyseal Dysplasia	Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy, Diaphyseal...	ORPHA:1513
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Micrognathia, Aplasia/Hypoplasia of th...	ORPHA:1225
Chopra-Amiel-Gordon Syndrome	Attention deficit hyperactivity disorder, Unilateral renal agenesis	OMIM:619504
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Abnormality of the kidney, Unilateral renal agenesis, Sensorineural hea...	OMIM:118100
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Renal Tubular Dysgenesis	Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts	ORPHA:3033
Sirenomelia	Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o...	ORPHA:3169
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Tenosynovial Giant Cell Tumor	Abnormality of the knee, Abnormality of the tympanic membrane, Abnormality of the auditory canal,...	ORPHA:66627
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyseal widening, Stage 5 chr...	OMIM:614376
Verheij Syndrome	Vertebral fusion, Renal agenesis, Optic nerve hypoplasia, Hip dislocation, Renal hypoplasia, Rena...	OMIM:615583
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Sensorineural hearing impairment, Renal hypoplasia, Patellar hypoplasia,...	ORPHA:464288
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abdominal distention, Abnormal carpal...	ORPHA:85166
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Microtia, ...	OMIM:239800
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Talipes equinovarus, Abnormal auditory e...	OMIM:601382
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Abnormal renal morph...	OMIM:609053
Williams-Beuren Region Duplication Syndrome	Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis, Attention deficit hyperactiv...	OMIM:609757
Summitt Syndrome	Syndactyly, Craniosynostosis	OMIM:272350
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi...	ORPHA:376
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
15Q24 Microdeletion Syndrome	Hypospadias, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Mye...	ORPHA:94065
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Abnormal radial ray morphology, Duodena...	OMIM:617784
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Abnormal ...	ORPHA:93929
Spastic Paraplegia 9A, Autosomal Dominant	Urinary incontinence, Hiatus hernia, Urinary urgency, Abnormal pelvic girdle bone morphology, Vom...	OMIM:601162
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Hadziselimovic Syndrome	Posteriorly rotated ears, Renal hypoplasia, High palate, Low-set ears, Anal atresia	OMIM:612946
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Trisomy X	Multicystic kidney dysplasia, Attention deficit hyperactivity disorder, Renal hypoplasia/aplasia	ORPHA:3375
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Recurrent urinary tract infections, Unilateral renal agenesis, Horsesho...	OMIM:613680
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, T...	ORPHA:59315
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Feingold Syndrome Type 1	Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ...	ORPHA:391641
Distal Duplication 15Q	Arachnodactyly, Camptodactyly of finger, Micrognathia, High palate, Anal atresia	ORPHA:1707
Infantile Myofibromatosis	Intestinal obstruction, Abnormality of the kidney, Tracheoesophageal fistula, Abnormal intestine ...	ORPHA:2591
Meckel Syndrome, Type 9	Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Fanconi Anemia, Complementation Group D1	Short thumb, Anal atresia	OMIM:605724
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Micrognathia, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutac...	OMIM:604273
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t...	ORPHA:3138
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Micrognathia, Metatarsus valgus, Aplas...	ORPHA:3082
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact...	ORPHA:380
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Hydrocephalus, Pelvic kidney, Anal atresia	OMIM:617244
Van Maldergem Syndrome 1	Anal atresia, Short fourth metatarsal, Wide cranial sutures, Hypospadias, Micrognathia, Sensorine...	OMIM:601390
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot	OMIM:183700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplastic ischia	OMIM:616910
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split ...	DECIPHER:46
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A...	ORPHA:2319
Hogue-Janssen Syndrome 2	Agenesis of corpus callosum, Unilateral renal agenesis	OMIM:616362
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Vesicoureteral reflux...	OMIM:603467
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern...	ORPHA:63260
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Glue ear, Absence of renal corticomedullary differentiation, Renal hypoplasia, Feeding difficulti...	OMIM:619758
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Missing ribs, Micrognathia, Hydrocephalus, Cleft palate, Hydronephrosis,...	OMIM:220210
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Abnormal femur morphology, Upper limb asymmetry, Abnormal ...	ORPHA:2063
Bnar Syndrome	Anteriorly placed anus, Anal stenosis, Abnormal fifth toe morphology	ORPHA:217266
Otofaciocervical Syndrome	Scapular winging, Down-sloping shoulders, Renal hypoplasia/aplasia, Protruding ear, Abnormal anti...	ORPHA:2792
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Conductive hearing impairment, Short phalanx of fi...	OMIM:132450
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Micrognathia, Cupped ear, Renal hypoplasia, 2-3 toe syndactyly, Small thenar eminence...	OMIM:618914
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Ectopic kidney, Micrognathia, Proximal placement of ...	OMIM:122470
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly...	ORPHA:166024
Familial Expansile Osteolysis	Conductive hearing impairment, Hydroxyprolinuria, Bowing of the long bones	OMIM:174810
Meckel Syndrome 12	Ureteral hypoplasia, Rocker bottom foot, Micrognathia, Renal hypoplasia, Antecubital pterygium, B...	OMIM:616258
Van Maldergem Syndrome 2	Short fourth metatarsal, Micrognathia, Anteriorly placed anus, Cutaneous syndactyly of toes, Cuta...	OMIM:615546
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sensorineural hearing impairment, Genu valgum, Slender long bones with narrow diaphyses, Disharmo...	OMIM:608154
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormality of the wrist,...	ORPHA:2878
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Hypoplasia of the odontoid process, Split hand, Flat acetabul...	OMIM:252500
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Joubert Syndrome 16	Encephalocele, Renal cyst, Nephronophthisis	OMIM:614465
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Micrognathia, Sensorineural hearing impairment, Renal hypoplasia, Macroti...	OMIM:616817
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Ethylene Glycol Poisoning	Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Add...	ORPHA:31826
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Conductive hearing impairment, Chronic otitis media, Clinodactyly of the 5th finger, Atresia of t...	OMIM:221320
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Micrognathia, Wris...	OMIM:166300
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Xerostomia, Congenital posterior urethral valve, Talipes...	OMIM:100100
Emanuel Syndrome	Recurrent urinary tract infections, Congenital hip dislocation, Intestinal malrotation, Unilatera...	OMIM:609029
Cat-Eye Syndrome (Type I)	Anal atresia, Micrognathia	DECIPHER:42
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubular acidosis, ...	OMIM:614922
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Intestinal obstruction, Micrognathia, Ext...	ORPHA:2323
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Distal Duplication 6P	Micrognathia, Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnormal antitragus morpholog...	ORPHA:1745
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ...	OMIM:615382
Anus, Imperforate	Anal atresia	OMIM:207500
Marden-Walker Syndrome	Hypospadias, Arachnodactyly, Micrognathia, High, narrow palate, Pyloric stenosis, Renal hypoplasi...	OMIM:248700
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Braddock Syndrome	Unilateral renal agenesis	ORPHA:52047
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Prune Belly Syndrome	Multicystic kidney dysplasia, Congenital hip dislocation, Renal insufficiency, Hydroureter, Intes...	ORPHA:2970
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Vesicoureteral reflux, Conductive hearing impairment, Vertebral fusion, Hypo...	ORPHA:959
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Prominent metopic ridge, Overlapping toe, Single transverse palmar crease, Hypospa...	OMIM:619148
Seckel Syndrome 7	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Sh...	OMIM:614851
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal a...	OMIM:617666
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Occipital ence...	ORPHA:887
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal...	OMIM:216360
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Cleft palate, Renal cyst, Low-set ears	OMIM:231060
Meckel Syndrome, Type 11	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:615397
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un...	OMIM:616300
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Bor Syndrome	Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal...	ORPHA:107
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ...	OMIM:617425
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Anteverted ears, Vesicoureteral reflux, Thickened helices, Micropenis, Renal hypo...	OMIM:617641
Developmental And Epileptic Encephalopathy 63	Overlapping toe, Cleft palate, EEG with generalized epileptiform discharges, Feeding difficulties...	OMIM:617976
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Abdominal pain, Malabsorption, Diarrhea, Clubbing, Clubbing of fingers, V...	OMIM:226300
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Femoral-Facial Syndrome	Short femur, Micrognathia, Renal hypoplasia/aplasia, Long penis, Coxa vara, Abnormal fibula morph...	ORPHA:1988
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Cleft palate, Ecto...	ORPHA:2994
Rhyns Syndrome	Renal insufficiency, Radial bowing, Sensorineural hearing impairment, Chronic kidney disease, Sho...	OMIM:602152
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, High palate, Clinodactyly of the...	OMIM:201000
Renpenning Syndrome	Hypospadias, Abnormal thumb morphology, High, narrow palate, Cleft palate, Clinodactyly of the 5t...	ORPHA:3242
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Hydronephrosis, Anal atresia	OMIM:235760
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Brachydactyly, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short to...	OMIM:614078
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Renal cyst, Horseshoe kidney, Cl...	OMIM:614815
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome...	OMIM:609616
Meckel Syndrome, Type 8	Abdominal distention, Cleft palate, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia...	OMIM:613885
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul...	OMIM:184260
Emanuel Syndrome	Congenital hip dislocation, Unilateral renal agenesis, Micrognathia, Renal hypoplasia, Cleft pala...	ORPHA:96170
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp...	OMIM:184460
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Posteriorly rotated ears, Delayed ossification of carpal bones, Short femoral neck, Macrotia, Bra...	OMIM:618392
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
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
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Proximal placement of thumb, Hearing impairment, Short hall...	ORPHA:90650
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hemifacial Microsomia With Radial Defects	Cleft palate, Microtia, Atresia of the external auditory canal, Triphalangeal thumb, Conductive h...	OMIM:141400
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu...	ORPHA:65759
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Unilateral renal agenesis, Patent ductus arteriosus, Proximal tubulopathy, Hype...	OMIM:614576
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Micrognathia, Missing ribs, Renal hypoplasia/aplasia, Anorectal anomaly,...	ORPHA:1834
Cerebrofacioarticular Syndrome	Syndactyly, Anal stenosis, Hypospadias, Micrognathia, Feeding difficulties in infancy, Gastrostom...	ORPHA:314679
Chromosome 17Q12 Deletion Syndrome	Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Long toe, Multicystic kidney d...	OMIM:614527
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiph...	ORPHA:93360
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Sensorineural hearing impairment, Nephrocalcinosis, Short 5th finger, Hypo...	ORPHA:557003
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the toes, Ectopic anus, Cleft palate, Aplasia/Hypop...	ORPHA:94066
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud...	ORPHA:73246
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali...	ORPHA:96148
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of...	ORPHA:261344
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Hypospadias, Abnormal pinna morphology, Postaxial polydactyly, Posta...	OMIM:614175
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Cardiospondylocarpofacial Syndrome	High, narrow palate, Short palm, Conductive hearing impairment, Synostosis of carpal bones, Brach...	ORPHA:3238
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia, Missin...	ORPHA:7
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger...	OMIM:107480
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Micrognathia, Sensorineural hearing impairment, Renal h...	ORPHA:85321
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta...	OMIM:206920
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Low-set ears, Metopic synostosis, Vesicoureteral reflux, Overfolded helix, Hydr...	OMIM:613735
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Ab...	ORPHA:183
Burkitt Lymphoma	Nausea and vomiting, Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain	ORPHA:543
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:617562
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Abdominal pain, ...	ORPHA:342
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ectopic kidney, Missing ribs, Abnormal iliac wing morp...	ORPHA:3027
Peroxisome Biogenesis Disorder 3A (Zellweger)	Feeding difficulties in infancy, Epiphyseal stippling, Polycystic kidney dysplasia, Low-set ears,...	OMIM:614859
Chromosome 3Pter-P25 Deletion Syndrome	Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Micrognathia, Tapered finger, Hi...	OMIM:613792
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Sensorineural hearing impairment, Submucous cleft hard palate, Renal hypop...	OMIM:617660
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Abnormality of t...	ORPHA:2973
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Micrognathia, Renal hypoplasia/aplasia, Cleft palate, Protruding ear, Multiple renal cysts, Abnor...	ORPHA:1166
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln...	ORPHA:2741
Igg4-Related Aortitis	Intestinal obstruction, Hydronephrosis, Abdominal pain	ORPHA:449400
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo...	ORPHA:3440
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Tapered finger, Feeding difficulties in infancy, Sensorineural hearing impairment, Small hand, Op...	OMIM:618672
Opitz-Kaveggia Syndrome	Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Prominent fingertip pads, ...	OMIM:305450
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Acrocraniofacial Dysostosis	Micrognathia, Abnormality of the malleus, Triphalangeal thumb, Conductive hearing impairment, Low...	ORPHA:949
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Feeding dif...	OMIM:617595
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Bilateral singl...	ORPHA:264200
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Bartsocas-Papas Syndrome 1	Ectopic kidney, Micrognathia, Hypoplastic iliac wing, Pterygium, Micropenis, Short phalanx of fin...	OMIM:263650
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Diamond-Blackfan Anemia 11	Unilateral renal agenesis	OMIM:614900
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,...	ORPHA:1788
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Hamartoma of tongue, Short toe, Renal hypoplasi...	OMIM:269860
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Middle Ear Neuroendocrine Tumor	Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu...	ORPHA:100084
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Cleft palate...	OMIM:605282
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Microg...	OMIM:263750
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Treacher Collins Syndrome 4	Conductive hearing impairment, Feeding difficulties in infancy, Cleft palate, Micrognathia	OMIM:618939
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Attention deficit hyperactivity disorder, Spina bifida occulta, Renal agenesis, Unilateral renal ...	OMIM:619227
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Broad hallux, Aganglionic megacolon, Shortening of all distal phalanges of the fin...	OMIM:614749
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Micrognathia, Cleft palate, Ectopic an...	ORPHA:1703
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atresia of the external auditory canal, ...	ORPHA:3236
Hand-Foot-Genital Syndrome	Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinodactyly of the 5t...	OMIM:140000
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E...	OMIM:243150
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent thumb, Absent radius, Esophag...	OMIM:614083
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys...	OMIM:610442
Klippel-Feil Syndrome 2, Autosomal Recessive	Abnormal pinna morphology, Sensorineural hearing impairment, Cleft palate, Fused cervical vertebr...	OMIM:214300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly, Abnormal pinna morphology, Renal hypoplasia	ORPHA:75389
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Tapered fi...	OMIM:615560
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
49,Xyyyy Syndrome	Low-set, posteriorly rotated ears, Abnormality of the epiphyses of the elbow, Large carpal bones,...	ORPHA:99330
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral muscle hypoplasia/aplasia, Low-...	OMIM:136760
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Single transverse palmar crease, Ketonuria, High palate, Renal hypoplasia	OMIM:619053
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor...	OMIM:135100
Camptobrachydactyly	Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract...	OMIM:114150
Kapur-Toriello Syndrome	Single transverse palmar crease, Camptodactyly of finger, Intestinal malrotation, Short thumb, Cl...	OMIM:244300
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Isolated Atp Synthase Deficiency	Sensorineural hearing impairment, 3-Methylglutaconic aciduria, Optic atrophy, Renal hypoplasia	ORPHA:254913
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Micrognathia	OMIM:266810
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Toe syndactyly, Hydroureter, Single transverse palmar crease, Craniosynostosis, 4-5 toe syndactyl...	OMIM:300707
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal...	OMIM:271650
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ...	ORPHA:2251
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Peritonitis, Arthr...	ORPHA:343
Coffin-Siris Syndrome 6	Wormian bones, Posteriorly rotated ears, Micrognathia, High, narrow palate, Cleft palate, Gastroe...	OMIM:617808
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Preaxial hand polydactyly, Overfolded helix, Cleft palate, Feeding d...	ORPHA:79113
Diaphanospondylodysostosis	Missing ribs, Cleft palate, Narrow pelvis bone, Multiple renal cysts, Abnormal vertebral segmenta...	ORPHA:66637
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb...	OMIM:600325
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Gastrointestinal Stromal Tumor	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Craniosynostosis, Preaxial h...	OMIM:175700
Cach Syndrome	Optic atrophy, Renal hypoplasia, Feeding difficulties, Vomiting, Dysphagia	ORPHA:135
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Brachydactyly,...	ORPHA:1001
Monosomy 5P	Microretrognathia, Finger syndactyly, High palate, Small hand	ORPHA:281
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Low-set, posteriorly rotated ears, Brachydactyly, Recurrent urinary tract infe...	ORPHA:502
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Urethral stricture, Anal stenosis, Hypospadias, Sagittal craniosynostosis,...	OMIM:617063
Pontocerebellar Hypoplasia, Type 11	Talipes equinovarus, Anal atresia	OMIM:617695
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Micrognathia, Abnormal optic disc morphology, Short palm, Clinodactyly of the 5th finger, Pelvic ...	ORPHA:508498
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Sensorineural hearing impairme...	OMIM:220500
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve...	ORPHA:93932
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Congenital Disorder Of Glycosylation, Type Iig	Single transverse palmar crease, Micrognathia, Feeding difficulties in infancy, Glossoptosis, Hig...	OMIM:611209
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Absent vertebra, H...	ORPHA:63259
Charlie M Syndrome	Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:1406
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Large earlobe, Cupped ear, Unilateral renal hypoplasia	OMIM:619955
Orofaciodigital Syndrome Viii	Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Gastrointestinal Stromal Tumor	Intestinal obstruction, Gastrointestinal stroma tumor, Large hands, Constipation, Dysphagia	OMIM:606764
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Micrognathia, Cupped ear, Cleft palate, Protruding ear, Glossoptosis, Microtia, Low-...	OMIM:616367
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ...	OMIM:173800
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Duplication of...	OMIM:601707
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Vesicoureteral reflux, Micropenis, Unilateral renal agenesis	OMIM:619951
Imagawa-Matsumoto Syndrome	Anteriorly placed anus, Large hands, Camptodactyly, Umbilical hernia, Clinodactyly	OMIM:618786
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micrognathia, Myelomeningocele, ...	ORPHA:2437
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Renal hypoplasia, 2-3...	OMIM:264480
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Hypospadia...	ORPHA:2438
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Matthew-Wood Syndrome	Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Low-set ears, Vesicoureteral reflux	ORPHA:2470
Shashi-Pena Syndrome	Patent ductus arteriosus, Unilateral renal agenesis	OMIM:617190
12Q14 Microdeletion Syndrome	Intestinal malrotation, Micrognathia, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Clinoda...	ORPHA:94063
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Camptodactyly, Joint contracture...	OMIM:603543
Rauch-Steindl Syndrome	Attached earlobe, Micrognathia, Prominent crus of helix, Bilateral renal hypoplasia, Protruding e...	OMIM:619695
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Aganglionic mega...	OMIM:236700
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete...	ORPHA:2911
Congenital Myopathy 17	Overlapping toe, Tapered finger, Clinodactyly, Renal hypoplasia, Cleft palate, High palate, Low-s...	OMIM:618975
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Lo...	OMIM:617746
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi...	ORPHA:239
Trisomy 12P	Micrognathia, Cleft palate, Large hands, Clinodactyly of the 5th finger, Anal atresia	ORPHA:1699
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short ...	OMIM:272460
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Cl...	ORPHA:1106
Phaver Syndrome	Broad hallux phalanx, Posteriorly rotated ears, Pterygium, Camptodactyly of finger, Short thumb, ...	ORPHA:2876
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Micrognathia, Coxa valga, Advanced ossification of carpal bon...	OMIM:618363
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Micrognathia, Absent radius, Rectal fistula, Rectal atresi...	OMIM:115470
Focal Facial Dermal Dysplasia 3, Setleis Type	Anal atresia	OMIM:227260
Zechi-Ceide Syndrome	Sandal gap, Short metatarsal, Abnormal earlobe morphology, Cleft palate, Microtia, Abnormal helix...	ORPHA:217017
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment	ORPHA:85179
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Abdominal pain, Malab...	ORPHA:131
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2...	ORPHA:91500
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger, Amelia	OMIM:601163
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Rocker bottom foot, Hydrocephalus, Short 2nd toe, Hip dysplasia, High palate, Clinodac...	OMIM:612582
Retinitis Pigmentosa	Conductive hearing impairment, Sensorineural hearing impairment, Hypoplasia of penis, Optic atrophy	ORPHA:791
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Delayed closure of the anterior fontanelle, Micrognathia, Postaxial polydac...	OMIM:618460
Non-Functioning Paraganglioma	Pulsatile tinnitus, Elevated urinary norepinephrine level, Paroxysmal vertigo, Elevated urinary d...	ORPHA:94080
Craniometaphyseal Dysplasia	Facial palsy, Sensorineural hearing impairment, Conductive hearing impairment, Abnormal metaphysi...	ORPHA:1522
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Robinow Syndrome, Autosomal Dominant 2	Mixed hearing impairment, Brachydactyly, Cleft soft palate, Micrognathia, Sensorineural hearing i...	OMIM:616331
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Conductive hearing impairment, Gastroesophageal reflux, Feeding difficulties	OMIM:618497
Joubert Syndrome 7	Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Focal Facial Dermal Dysplasia Type Iii	Abnormal sacroiliac joint morphology, Anal atresia	ORPHA:1807
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis	OMIM:608980
Axial Osteomalacia	Renal cyst	OMIM:109130
Mohr Syndrome	Syndactyly, Wormian bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, F...	OMIM:252100
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr...	OMIM:305620
Schizophrenia 1	Partially duplicated kidney, Renal agenesis, Ectopic kidney	OMIM:181510
Moebius Syndrome	Syndactyly, Brachydactyly, Micrognathia, Split hand, Micropenis, Abnormal pelvic girdle bone morp...	OMIM:157900
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Micrognathia, Hypoplastic ilia, Patellar aplasia, ...	ORPHA:85201
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Penile Agenesis	Urethral atresia, male, Posteriorly rotated ears, Hydroureter, Rectal fistula, Fetal pyelectasis,...	ORPHA:49
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Posteriorly rotated ears, Small hand, Cleft palate, Anteriorly plac...	OMIM:619980
Mosaic Trisomy 1	Single transverse palmar crease, Renal cyst, Finger clinodactyly, Micropenis, Absent distal inter...	ORPHA:1692
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Micrognathia, Postaxial polydactyly, ...	OMIM:617866
Larsen Syndrome	Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo...	ORPHA:503
Muenke Syndrome	Brachydactyly, Broad hallux, Capitate-hamate fusion, Sensorineural hearing impairment, Cone-shape...	OMIM:602849
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly, Hypospadias, Renal cyst	OMIM:605231
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Postaxial h...	OMIM:615994
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Micrognathia, Wrist swelling, Slender long bone, Metacarpal...	ORPHA:2774
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Missing ...	ORPHA:1488
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastrointest...	OMIM:270400
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Posteriorly rotated ears, Micrognathia, Tapered finger, Feeding dif...	OMIM:618829
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,...	OMIM:251450
Porphyria Variegata	Proximal muscle weakness in upper limbs, Neurogenic bladder, Abdominal pain, Chronic kidney disea...	ORPHA:79473
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of...	ORPHA:857
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Hyperechog...	OMIM:617914
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Cleft Palate, Deafness, And Oligodontia	Sandal gap, Bilateral conductive hearing impairment, Cleft soft palate, Short hallux	OMIM:216300
Steel Syndrome	Carpal synostosis, Sensorineural hearing impairment, Hip dislocation, Coxa vara, Clinodactyly of ...	OMIM:615155
Hajdu-Cheney Syndrome	Wormian bones, Hypospadias, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Renal c...	OMIM:102500
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Optic atrophy, Renal hypoplasia, ...	OMIM:617913
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the...	OMIM:609638
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Short Stature, Microcephaly, And Endocrine Dysfunction	Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney	OMIM:616541
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Hamart...	OMIM:277170
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Hypospadias, Spina bifida, Ectopic kidney, Absent radius, Sh...	OMIM:192350
Larsen-Like Syndrome	Joint dislocation, Cleft palate, Recurrent otitis media, Radial deviation of the 4th finger, Low-...	OMIM:608545
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Renal hypoplasia/aplasia, Feeding difficulties in infancy, Abnormal...	ORPHA:819
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Kniest Dysplasia	Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossif...	OMIM:156550
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Vesicoureteral reflux, Conductive hearing impairment, Abnormal salivary...	ORPHA:2363
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydrocephalus, Hydronephrosis	ORPHA:251046
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Short p...	OMIM:235510
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hea...	ORPHA:261197
Stromme Syndrome	Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Micrognathia, Bilateral renal hy...	OMIM:243605
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	Ectopic anus, Craniosynostosis	ORPHA:2866
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hearing abnormality, Renal cyst,...	ORPHA:2031
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Abdominal pain, Diarrhea, Paralytic ileus, Urinary retention, Vomi...	OMIM:176000
Osteogenesis Imperfecta	Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, F...	ORPHA:666
Methylmalonic Acidemia With Homocystinuria Type Cblf	Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Micrognathia, Narrow palate, Short first metata...	OMIM:613684
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Developmental Delay With Or Without Dysmorphic Facies And Autism	Posteriorly rotated ears, Micrognathia, 2-3 toe cutaneous syndactyly, Optic disc coloboma, Renal ...	OMIM:618454
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Craniosynostosis, Micrognathia, Metaphyse...	OMIM:250410
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Conductive hearing impairment, Velopharyngeal insuf...	ORPHA:99772
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves...	ORPHA:2237
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Spina bifida occu...	OMIM:300373
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Renal cyst	OMIM:614862
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Microgn...	ORPHA:2059
Castleman Disease	Nausea and vomiting, Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal o...	ORPHA:160
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Cleft palate, Feeding diffi...	OMIM:620269
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Hydroureter, Hydronephrosis	OMIM:618240
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Renal dysplasia, Ectopic kidney	ORPHA:2578
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Femoral bowing, Anteriorly placed anus, Gastroesophageal reflux, Vesicourete...	ORPHA:95699
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Protruding tongue,...	ORPHA:870
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Anterior encephalocele, Foot oligodactyly, Holoprosencephaly...	OMIM:601357
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Cdags Syndrome	Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Cleft palate, Rectovaginal fistula...	OMIM:603116
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Cleft...	OMIM:611561
Andersen-Tawil Syndrome	Micrognathia, Small hand, 2-3 toe syndactyly, Renal hypoplasia, Renal tubular dysfunction, Short ...	ORPHA:37553
Ravine Syndrome	Abnormal auditory evoked potentials, Anorexia	ORPHA:99852
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossifica...	ORPHA:1190
Granulomatosis With Polyangiitis	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Gastroi...	ORPHA:900
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Missing ribs, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia invol...	ORPHA:3301
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:110
Congenital Disorder Of Glycosylation, Type Iit	Posteriorly rotated ears, Urinary incontinence, Sandal gap, Small hand, Feeding difficulties, Sho...	OMIM:618885
Oculopharyngodistal Myopathy 3	Conductive hearing impairment, Sensorineural hearing impairment, Dysphagia	OMIM:619473
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:610738
Trisomy 10P	Micrognathia, Abnormality of the ear, EEG with focal spikes, High palate, Gastroesophageal reflux...	ORPHA:171929
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Esophageal diverticulum, Preaxial polyd...	OMIM:617925
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
15q26 overgrowth syndrome	Micrognathia, Abnormal finger morphology, High palate, Vesicoureteral reflux, Long toe, Arachnoda...	DECIPHER:81
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Renal...	ORPHA:1297
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Patent ductus arteriosus, Unilateral renal agenesis	OMIM:620024
Trisomy 13	High, narrow palate, Sensorineural hearing impairment, Postaxial hand polydactyly, Abnormality of...	ORPHA:3378
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostosis, External ear malf...	ORPHA:254346
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Weaver Syndrome	Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Micrognathia, Large ...	ORPHA:3447
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Patent ductus arteriosus, Ovarian cyst, Umbilical hernia, Enlarged kidney	OMIM:618188
Trisomy 18	Microretrognathia, Camptodactyly of finger, Spina bifida, Esophageal atresia, Postaxial hand poly...	ORPHA:3380
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Prominent fingertip pads, Anal atresia, Micrognathia	OMIM:616875
X-Linked Intellectual Disability, Sutherland-Haan Type	Anal atresia	ORPHA:93950
Kinsship Syndrome	Single transverse palmar crease, Micrognathia, Coxa valga, Hip dislocation, Renal hypoplasia, Hor...	OMIM:619297
Saethre-Chotzen Syndrome	Triphalangeal thumb, Clinodactyly of the 5th finger, Conductive hearing impairment, Bilateral sin...	ORPHA:794
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Chronic diarrhea, Ileus, Arthritis	OMIM:304790
Vacterl With Hydrocephalus	Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydro...	ORPHA:3412
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Cleft palate, Short foot, Hip...	OMIM:300968
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Horseshoe kidney, Lateral ventricle dilatation	OMIM:602200
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Arachnodactyly, Sandal gap, Intestinal malrotation, High palate, Camptodactyly, Clin...	OMIM:617602
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodysplasia, Re...	ORPHA:166035
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Microtia, Clinod...	ORPHA:319675
Acute Intermittent Porphyria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Nausea and vomiting, Dy...	ORPHA:79276
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Cleft pal...	ORPHA:2332
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Attention deficit h...	ORPHA:464311
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Hydroureter, Intestinal malr...	OMIM:258040
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Craniosynostosis, Genu varum, Hip dislocation, Deep palmar crease, High palate, Clino...	OMIM:619451
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo...	OMIM:614120
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineural hearing impairment, ...	OMIM:618733
Branchiootic Syndrome	Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, Cleft...	ORPHA:52429
Transketolase Deficiency	Increased level of ribose in urine, Patent ductus arteriosus, Renal cyst, Self-injurious behavior...	ORPHA:488618
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Macrodactyly, Sandal gap, Renal hypoplasia	OMIM:612918
Hypomelanosis Of Ito	Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger	OMIM:300337
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Flared metaphysis, Hypoplastic pubic bone, Glossoptosis, Short long bone, Small epi...	ORPHA:93346
Shigellosis	Anorexia, Abdominal pain, Hemolytic-uremic syndrome, Intestinal perforation, Peritonitis, Urethri...	ORPHA:810
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Kleefstra Syndrome Due To A Point Mutation	Vesicoureteral reflux, Umbilical hernia, Anal atresia, Tapered finger	ORPHA:261652
Non-Syndromic Posterior Hypospadias	Ventral shortening of foreskin, Esophageal atresia, Cleft palate, Urethral diverticulum, Displace...	ORPHA:95706
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Hypospadias, P...	ORPHA:2211
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Micrognathia, Sensorineural hearing ...	ORPHA:314588
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c...	ORPHA:2377
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly	ORPHA:1445
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy...	ORPHA:1553
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Renal duplication, Ectopic kidney, Micrognathia, Cleft palate, Microtia...	OMIM:613309
Acrocallosal Syndrome	High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Microretrognathia, Finger s...	OMIM:200990
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, High, narrow palate, Ileus, High palate, Low-set ears, Brachydactyly	OMIM:620156
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Abnormality of the ureter	ORPHA:1035
Myoectodermal Gonadal Dysgenesis Syndrome	Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx of the thumb, Py...	OMIM:618419
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Renal agenesis, Hamartoma o...	ORPHA:2754
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Oculogastrointestinal Neurodevelopmental Syndrome	Anal atresia, Horseshoe kidney	OMIM:619318
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Chronic diarrhea, Protruding ear, Macrotia	OMIM:601675
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal diaphysis morphology, Cl...	ORPHA:1515
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Patent...	ORPHA:96121
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Arthrogryposis, Distal, Type 2A	Joint dislocation, Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, ...	OMIM:193700
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Pyloric stenosis	OMIM:226700
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Fanconi Anemia	Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t...	ORPHA:84
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh...	ORPHA:67
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo...	OMIM:615986
Fryns Syndrome	Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb, Renal cyst, P...	OMIM:229850
Meckel Syndrome, Type 3	Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyl...	OMIM:607361
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Renal tubular epithelial...	ORPHA:95455
Ramon Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Narrow palate	ORPHA:3019
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Micrognathia, Renal hypoplasia/aplasia,...	ORPHA:3015
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Posteriorly rotated ears, Underdeveloped antitragus, Unil...	OMIM:181270
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Duplicated collecting system, Bilateral single...	ORPHA:488642
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Micr...	ORPHA:464306
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Craniosynostosis, Split ...	ORPHA:2145
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Pancreatic cysts, Clubbing of...	ORPHA:1318
Trisomy 17P	Hypoplasia of penis, Urethral valve, Prominent metopic ridge, Micrognathia, Tapered finger, Ureth...	ORPHA:261290
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Hydr...	ORPHA:1908
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Toe syndactyly, Ectopic kidney, Hypoplasia of the radius, Vesicoureteral ref...	ORPHA:140952
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Micrognathia, Abnormality of the ureter, Short distal ph...	OMIM:180860
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta, Micrognathia	ORPHA:1514
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Fetal pyelectasis, Nephrocalcinosis, Cl...	ORPHA:264450
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Diarrhea, Renal cyst, Proximal tubulopathy, Vomiting, Protein-losing enteropathy...	OMIM:602579
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, 3-4 finger cutaneous ...	ORPHA:69085
Degcags Syndrome	Micrognathia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophagea...	OMIM:619488
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Micrognathia, Vesicoureteral reflux, Cl...	OMIM:614080
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Mixed hearing impairment, Enlarged joints, Large tarsal bones, Micrognathia...	OMIM:215150
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Waardenburg Syndrome, Type 3	Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Sensorineural hearing impairmen...	OMIM:148820
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia, Postaxial ...	ORPHA:2166
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Prominent fingertip pads, Anal atresia, Micrognathia	ORPHA:480898
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo...	OMIM:117650
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Multifocal ep...	OMIM:615398
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pulsatile tinnitus, Proteinuria, Elevated urinary norepinephrine level, Paroxysmal vertigo, Eleva...	ORPHA:276621
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Unilateral renal agenesis, Abnormal repetitive mannerisms, Self-injurious behavior, ...	ORPHA:468631
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Feeding difficulties in infancy, Short metatarsal, Finger clinodactyl...	OMIM:617137
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma	OMIM:613576
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Patent ductus arteriosu...	ORPHA:2547
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ...	OMIM:224400
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Brachydactyly, Optic atrophy, Abnormal metacarpal morphology	ORPHA:93262
Secondary Intestinal Lymphangiectasia	Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsi...	ORPHA:90363
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Posteriorly rotated ears, Aganglionic megacolon, Tapered finger, Short toe, Sensorineural hearing...	OMIM:239300
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal pinna morphology, Micrognath...	ORPHA:3404
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Preaxial hand polydac...	OMIM:610536
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Conductive hearing ...	OMIM:300946
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft palate, Lobulated...	OMIM:258860
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Lobulated tongue, Syndactyly, Postaxial foot polydactyly, ...	OMIM:249000
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne...	OMIM:615777
Pallister-Hall Syndrome	Ectopic kidney, Holoprosencephaly, Micropenis, Bifid uvula, Microretrognathia, Mesoaxial polydact...	ORPHA:672
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia, Cleft palate, Micrognathia	OMIM:248390
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Posteriorly rotated ears, Sandal gap, Short toe, High palate, Clinodactyly of t...	OMIM:617877
Osteopetrosis, Autosomal Dominant 1	Conductive hearing impairment, Abnormal pelvic girdle bone morphology, Thickened cortex of long b...	OMIM:607634
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Metaphyseal widening, Large ...	OMIM:263210
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Cleft palate, Abno...	ORPHA:3429
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Agenesis of corpus callosum, Unilateral renal agenesis	ORPHA:457284
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Partial agenesis of the corpus callosum, St...	OMIM:620305
Otofaciocervical Syndrome 1	Scapular winging, Mixed hearing impairment, Down-sloping shoulders, Hypoplasia of the cochlea, Cu...	OMIM:166780
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn...	OMIM:217085
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Crouzon Syndrome	Optic atrophy, Narrow palate, Multiple suture craniosynostosis, Conductive hearing impairment, Na...	ORPHA:207
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Aural Atresia, Congenital	Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney diseas...	OMIM:208500
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, External ear malformation, Feeding diffi...	ORPHA:912
Lumbar Syndrome	Hypospadias, Spina bifida, Myelomeningocele, Ectopic anus, Vesicoureteral reflux, Micropenis, Bla...	ORPHA:83628
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive hearing i...	OMIM:608257
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment, Abnormal metaphysis morphology, Limb undergrowth	ORPHA:1861
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal u...	ORPHA:913
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Abdominal pain, Abnormal sacroiliac joint morphology, Vertigo, Diarrhea, ...	ORPHA:32960
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Knee flexion contracture, High palate, Intercrural pterygium, Conductive hearing im...	OMIM:265000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Protruding ear, Abnormal shoulder morp...	ORPHA:2115
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hypospadias, Short metatarsal, Advanced ossification of carpal bones, Cone-shap...	OMIM:614613
Cleft Lip/Palate	Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Velopharyngea...	ORPHA:199306
22Q11.2 Deletion Syndrome	Micrognathia, Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal reflux, Vesico...	ORPHA:567
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, High palate, Vesicour...	ORPHA:199
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Diaphanospondylodysostosis	Nephrogenic rest, Micrognathia, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Cleft palate...	OMIM:608022
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Urinary incontinence	OMIM:615284
Noonan Syndrome 12	11 pairs of ribs, Anteriorly placed anus, Proximal placement of thumb	OMIM:618624
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Exocrine pancreatic insufficiency, Multiple...	OMIM:118450
Malignant Peritoneal Mesothelioma	Abdominal distention, Peritonitis, Ileus, Abdominal pain	ORPHA:168811
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St...	OMIM:612290
Acrorenal-Mandibular Syndrome	Micrognathia, Aplasia of the bladder, High palate, Hypoplasia of the ulna, Split hand, Split foot...	OMIM:200980
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Ciliary Dyskinesia, Primary, 33	Conductive hearing impairment, Recurrent otitis media	OMIM:616726
Oculoauriculofrontonasal Syndrome	Conductive hearing impairment, Microtia, Cleft palate, Micrognathia	ORPHA:398156
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Umbilical hernia, Stillbirth, Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Hypospadias, Micrognathia, Aplasia/hypoplasia involving bones of...	ORPHA:96176
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Agenesis of corpus callosum, Unilateral renal agenesis, Bilateral renal agenesis	OMIM:619194
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis	ORPHA:2673
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serration, Abnor...	ORPHA:168549
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Micrognathia, Metatarsus adductus, Optic nerve dysplasia, Cleft ...	OMIM:214110
Larsen Syndrome	Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Dislocated wrist, Short ...	OMIM:150250
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P...	ORPHA:93111
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly,...	ORPHA:397590
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Mixed hearing impairment, Short femur, Micrognathia, Cleft hard palate, Sensorineural hearing imp...	OMIM:300990
Teebi Hypertelorism Syndrome 2	Syndactyly, Hypospadias, Cleft palate, High palate, Clinodactyly of the 5th finger	OMIM:619736
Qazi-Markouizos Syndrome	Tapered finger, High, narrow palate, Abdominal distention, EEG abnormality, Chronic constipation,...	ORPHA:3010
Johnson Neuroectodermal Syndrome	Facial palsy, Preaxial hand polydactyly, Cleft palate, Protruding ear, Microtia, Hand polydactyly...	ORPHA:2316
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Abnormal pinna morphology, ...	OMIM:219000
Chondrodysplasia, Blomstrand Type	Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc...	OMIM:215045
Anauxetic Dysplasia 1	Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra...	OMIM:607095
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Prominent metopic ridge, Bilateral single transverse palmar creases...	ORPHA:261349
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Micrognathia, Sensorineural hearing impairment, Osteoarthritis, Irre...	OMIM:108300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Feeding difficulties in infancy, Knee flexion contracture, High palate, Vom...	OMIM:608836
Brachycephaly, Trichomegaly, And Developmental Delay	Prominent fingertip pads, Single transverse palmar crease, Submucous cleft hard palate, High pala...	OMIM:617412
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Posteriorly rotated ears, Single transverse palmar crease, Dilatation of renal calices, Sensorine...	ORPHA:466943
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Finger syndactyl...	ORPHA:2092
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly	OMIM:602501
Floating-Harbor Syndrome	Enlarged joints, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophageal reflux, C...	ORPHA:2044
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Feeding difficulties...	ORPHA:261265
Oculodentodigital Dysplasia	Micrognathia, Abnormality of the ear, Clinodactyly of the 5th finger, Conductive hearing impairme...	ORPHA:2710
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Wormian bones, Rhizomelia, Short ...	OMIM:616229
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Broad finger, High palate, Abnormal auditory evoked potentials	OMIM:617523
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Hypospadias, Tarsal synostosis, Aplastic clavicle, Micrognathia, Cleft palate, Ectopic anus, Anal...	ORPHA:85199
Joubert Syndrome 33	Syndactyly	OMIM:617767
Cockayne Syndrome Type 3	Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesi...	ORPHA:90324
Diphallia	Ureteral duplication, Rectoperineal fistula, Hypospadias, Distal urethral duplication, Absent thu...	ORPHA:227
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Umbilical hernia, Recurrent urinary tract infections, Unilateral renal agenesis	ORPHA:221139
Global Developmental Delay With Speech And Behavioral Abnormalities	Anal atresia, Micrognathia	OMIM:619243
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis	OMIM:101800
3Mc Syndrome 1	Single interphalangeal crease of fifth finger, Cleft palate, Caudal appendage, Short foot, Radiou...	OMIM:257920
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Abnormal pinna morphology, Micromelia, Craniosynostosis, Postaxial hand polyda...	OMIM:200995
Sotos Syndrome	Posteriorly rotated ears, Abnormality of the kidney, High, narrow palate, Long metacarpals, Narro...	OMIM:117550
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Micrognathia, Dysphagia, Bilateral conductive hearing impairment, Low-...	OMIM:617802
Coffin-Siris Syndrome 1	Single transverse palmar crease, Ectopic kidney, Feeding difficulties in infancy, Prominent inter...	OMIM:135900
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Scapular winging, Proximal muscle weakn...	ORPHA:101085
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Feeding difficult...	ORPHA:87
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Renpenning Syndrome 1	Hypospadias, Phimosis, Micrognathia, Cupped ear, Renal hypoplasia, Cleft palate, Protruding ear, ...	OMIM:309500
Ectodermal Dysplasia With Mental Retardation And Syndactyly	3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Nasogastric tube feeding i...	ORPHA:221120
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Micrognathia, Cleft palate, Feeding difficulties, Glossoptosis, Cli...	ORPHA:1393
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Bilateral con...	OMIM:602080
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Epiphyseal stippling	OMIM:601539
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Nasogastric tube feeding in infancy, 2-3 toe syndactyly, Cleft palate, Palmoplantar ...	OMIM:106260
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Grfoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia...	ORPHA:97261
Microphthalmia, Syndromic 6	Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Cli...	OMIM:607932
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial...	ORPHA:2753
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Attention deficit...	ORPHA:261222
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:1770
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Myelomen...	ORPHA:1756
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Renal cyst	OMIM:611134
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Anal stenosis, Hydroureter, Proportionate shortening of all digits, Tapered fi...	ORPHA:280633
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Bowel incontinence, Pyloric stenosis, Vesi...	ORPHA:261494
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Hearing impairment, Coxa valga, Genu valgum, Delayed o...	OMIM:620099
Aarskog-Scott Syndrome	Finger syndactyly, Genu recurvatum, Single transverse palmar crease, Camptodactyly of finger, Sma...	ORPHA:915
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Multiple pterygia, Micrognathia,...	ORPHA:2990
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Preaxial hand polydactyly,...	ORPHA:93271
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clinodactyly of ...	OMIM:136140
Radio-Tartaglia Syndrome	Brachydactyly, Micrognathia, Tapered finger, High, narrow palate, Dysphagia, Large earlobe, High ...	OMIM:619312
Tyrosinemia, Type I	Acute hepatic failure, Gastrointestinal hemorrhage, Renal insufficiency, Nephrocalcinosis, Paraly...	OMIM:276700
Microphthalmia, Syndromic 9	Renal malrotation, Micrognathia, Renal hypoplasia, Horseshoe kidney, Low-set ears, Pelvic kidney,...	OMIM:601186
Fraser Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:2052
Muenke Syndrome	Tarsal synostosis, High, narrow palate, Sensorineural hearing impairment, Cone-shaped epiphysis, ...	ORPHA:53271
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Renal hypoplasia, F...	OMIM:620005
Charge Syndrome	Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Micropenis, Hypoplasia of the ul...	OMIM:214800
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Distal Renal Tubular Acidosis	Hyperphosphaturia, Poor appetite, Hypocitraturia, Sensorineural hearing impairment, Diarrhea, Nep...	ORPHA:18
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Craniosynostosis, Micrognathia, High, narrow palate, Nasogastric tube feeding in infancy, Hyperca...	ORPHA:369837
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Postaxial hand polydactyly, Cleft palate...	ORPHA:2075
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Hypoplasia of the odo...	OMIM:250250
Down Syndrome	Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protruding tongue, Hypoplasti...	OMIM:190685
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Intestinal lymphangiectasia, Camptodactyly	OMIM:616006
Anorectal Anomalies	Rectovaginal fistula, Anal atresia	OMIM:107100
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga	OMIM:109120
Diamond-Blackfan Anemia 1	11 pairs of ribs, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication ...	OMIM:105650
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen...	OMIM:609166
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal...	OMIM:300963
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Conductive hearing impairment, Abnormal antihelix morphology, Micrognathia	ORPHA:3145
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V...	ORPHA:93930
Multicentric Osteolysis, Nodulosis, And Arthropathy	Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro...	OMIM:259600
C Syndrome	Short metacarpal, Toe syndactyly, Posteriorly rotated ears, Micromelia, Micrognathia, Postaxial h...	OMIM:211750
Tetrasomy 12P	Abnormal soft palate morphology, Anal atresia	ORPHA:884
Ppoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia...	ORPHA:97278
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla...	OMIM:311900
Combined Oxidative Phosphorylation Deficiency 7	Optic atrophy, Paralytic ileus, Facial diplegia, Dysphagia, Facial paralysis	OMIM:613559
Chromosome 18Q Deletion Syndrome	Toe syndactyly, Hypospadias, Rocker bottom foot, Proximal placement of thumb, Overlapping toe, Se...	OMIM:601808
Hereditary Pheochromocytoma-Paraganglioma	Pulsatile tinnitus, Proteinuria, Elevated urinary norepinephrine level, Paroxysmal vertigo, Eleva...	ORPHA:29072
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Micrognathia, High palate, Vomiting, Gastroesophageal reflux, Vesicoureteral reflux, Micropenis, ...	OMIM:309580
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo...	ORPHA:3121
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Osteopathia Striata-Cranial Sclerosis Syndrome	Posteriorly rotated ears, Facial palsy, Micrognathia, Large iliac wing, High, narrow palate, Subm...	ORPHA:2780
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Patent ductus arteriosus, Self-mutilation, Unilateral renal agenesis, Attention deficit hyperacti...	OMIM:213980
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia	ORPHA:2241
Marden-Walker Syndrome	Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, H...	ORPHA:2461
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Gastroesophageal reflux, Micropeni...	OMIM:134780
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormal finger flexion crea...	ORPHA:314585
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the ureter	ORPHA:3409
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia, Spina bifi...	OMIM:617466
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Arachnodactyly	OMIM:619092
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Hypospadias, Hand polydactyly, High palate, Broad thumb	OMIM:239710
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, High palate, Nephronophthisis, ...	OMIM:266920
Giant Cell Arteritis	Renal insufficiency, Anorexia, Abdominal pain, Vertigo, Optic atrophy, Hematuria, Arthritis, Gast...	ORPHA:397
Craniometaphyseal Dysplasia, Autosomal Dominant	Mixed hearing impairment, Facial palsy, Metaphyseal widening, Flared metaphysis, Abnormal pelvic ...	OMIM:123000
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Sensorineural hearing impairment, Sta...	OMIM:613159
Hereditary Orotic Aciduria	Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Oro...	ORPHA:30
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Congenital Disorder Of Glycosylation, Type Il	Hip dislocation, Polycystic kidney dysplasia, Low-set ears	OMIM:608776
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Congenital sensorineural hearing impairment, Mixed hearing impairment, Palmoplantar keratoderma, ...	ORPHA:2698
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Anal stenosis, Microgn...	OMIM:606170
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Toe syndactyly, Camptodactyly of finger, Unilateral renal agenesis, Tapered fi...	ORPHA:261337
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Malabsorption, Ileus, Secretory diarrhea, Tubulointerstitial nephritis, Nephrotic synd...	ORPHA:37042
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul...	ORPHA:220460
Agnathia-Otocephaly Complex	Micrognathia, Aglossia, Cleft palate, Low-set ears, Conductive hearing impairment, Microglossia, ...	OMIM:202650
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, Micrognathia, High, narrow palate, Aplasia/Hypop...	ORPHA:96149
Trisomy 20P	Low-set, posteriorly rotated ears, Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnor...	ORPHA:261318
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Malabsorption, Anteriorly placed anus, Hydronephrosis, Anal atr...	ORPHA:2315
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta	ORPHA:2475
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Rocker bottom foot, Micromelia, Micrognathia, Elbow disloca...	ORPHA:99776
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Small hand, Spina bifida occulta, Short 4th...	ORPHA:1787
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Feeding difficulties in ...	ORPHA:508488
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc...	OMIM:304120
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Posteriorly rotated ears, Tarsal synostosis, Gastroparesis, Congenital sensori...	OMIM:157800
46,Xy Sex Reversal 4	Distal symphalangism, Micrognathia, Cleft palate, High palate, Ureteropelvic junction obstruction...	OMIM:154230
Meckel Syndrome, Type 6	Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Postaxial foot polydactyly, Cleft palat...	OMIM:612284
Nijmegen Breakage Syndrome	Anal stenosis, Sandal gap, Micrognathia, 2-3 toe syndactyly, Cleft palate, Hydronephrosis, Anal a...	OMIM:251260
Glucagonoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia...	ORPHA:97280
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Feeding diffi...	OMIM:614866
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact...	OMIM:613573
Peters-Plus Syndrome	Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Micrognathia, Prox...	OMIM:261540
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Underfolded superior helices, Cons...	OMIM:300352
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Somatostatinoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia...	ORPHA:97283
Silver-Russell Syndrome 3	Syndactyly, Small hand, Antecubital pterygium, Clinodactyly of the 5th finger, Penoscrotal hyposp...	OMIM:616489
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia	OMIM:270420
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Hypospadias, Single transverse palmar crease, Ankle flexion co...	ORPHA:435938
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the distal p...	ORPHA:1234
Microphthalmia, Syndromic 1	Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, High palate, Prominent fin...	OMIM:309800
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ...	ORPHA:1512
Joubert Syndrome 14	Posteriorly rotated ears, Postaxial polydactyly, Optic atrophy, Renal cyst, Cleft palate, Low-set...	OMIM:614424
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Abnormal pinna morphology, Posteriorly rotated ears, Micrognathia, Arachnodactyl...	OMIM:182212
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Patent ductus arteriosus, Stage 5 chronic k...	OMIM:208540
Filippi Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly	OMIM:272440
Thakker-Donnai Syndrome	Communicating hydrocephalus, Tracheoesophageal fistula, Rectovaginal fistula, Cervical C2/C3 vert...	ORPHA:1780
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Posteriorly rotated ears, Arachnodactyly, Long palm, ...	ORPHA:2215
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Hypospadias, Metatarsus adductus, Sensorineural hearing impairment, Prematu...	OMIM:611962
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Bowing of the legs, Sensorineural hearing impairment, Renal c...	OMIM:617107
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Currarino Syndrome	Absence of the sacrum, Neurogenic bladder, Anal stenosis, Urinary incontinence, Perianal abscess,...	OMIM:176450
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cleft palate, Cutaneous syndactyl...	OMIM:600987
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ...	ORPHA:500095
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Intestinal malrotation, Velopharyngeal insufficiency...	OMIM:614701
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Chronic otitis media...	ORPHA:2750
17Q24.2 Microdeletion Syndrome	Otosclerosis, Micrognathia, Vesicoureteral reflux, Upper limb undergrowth, Feeding difficulties, ...	ORPHA:529962
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Glossoptosis, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Conducti...	ORPHA:444077
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Abnormal hip bone morpho...	ORPHA:1323
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, High p...	ORPHA:2751
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Brachydactyly, Recurrent urinary tract infections, Rectal prolapse, Optic disc ...	OMIM:617157
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Micrognathia, Clinodactyly of the 5th finger, Chronic otitis media, Bilatera...	ORPHA:1507
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
X-Linked Creatine Transporter Deficiency	Constipation, Ileus, Aganglionic megacolon	ORPHA:52503
Triploidy	Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia, Hydroc...	ORPHA:3376
Waardenburg Syndrome Type 3	Camptodactyly of finger, Hearing impairment, Abnormal finger morphology, Cutaneous finger syndact...	ORPHA:896
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Micrognathia, 2-3 toe syndactyly, Protruding ear, Feeding difficulties...	OMIM:606232
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Intestinal obstruction, Chronic diarrhea	OMIM:600802
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Hypospadi...	OMIM:312870
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Protruding tongue, Optic atrophy, Slender long bone, ...	ORPHA:561
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatoblastoma, Renal hypoplasia, Bloody diarrhea, Colitis, Polycysti...	ORPHA:84064
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Renal cyst, Colpocephaly, Agenesis of corpus callosum, Renal dysplasia	OMIM:617260
Leopard Syndrome 1	Micropenis, Spina bifida occulta, Hypospadias, Unilateral renal agenesis	OMIM:151100
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteriorly placed anus, Aque...	OMIM:306955
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu...	ORPHA:223
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Aggressive behavior, ...	ORPHA:268261
Von Hippel-Lindau Syndrome	Pancreatic cysts, Vertigo, Sensorineural hearing impairment, Renal cell carcinoma, Multiple renal...	OMIM:193300
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Small hand, Short palm, Clinoda...	ORPHA:1786
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Abd...	OMIM:619879
Ciliary Dyskinesia, Primary, 38	Conductive hearing impairment, Chronic otitis media	OMIM:618063
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Hydroureter, Absence of Stensen duct, Split hand, Xerostomia, Cleft palate, Bladd...	OMIM:129900
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Partial agenesis of the corpus callosum, Renal cyst	OMIM:617478
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia, Absent thumb	OMIM:615272
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Joint dislocation, Crossed fused renal ectopia, Congenital hi...	OMIM:147920
Craniometaphyseal Dysplasia, Autosomal Recessive	Metaphyseal dysplasia, Mixed hearing impairment, Facial palsy, Flared metaphysis, Optic atrophy, ...	OMIM:218400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:352665
Phakomatosis Pigmentokeratotica	Unilateral renal hypoplasia, Nephroblastoma, Hemiatrophy, Renal transitional cell carcinoma	ORPHA:2874
D-Bifunctional Protein Deficiency	Micrognathia, Decreased nerve conduction velocity, Feeding difficulties in infancy, Split hand, R...	OMIM:261515
Williams Syndrome	Hypoplasia of penis, Micrognathia, Rectal prolapse, Abnormal tubulointerstitial morphology, Protr...	ORPHA:904
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Dysplastic corpus callosum, Patent ductus arteriosus, Horses...	OMIM:617140
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, High palate, T...	OMIM:619762
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Lateral Meningocele Syndrome	Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Abnormality of the middle ear o...	ORPHA:2789
Hennekam-Beemer Syndrome	Camptodactyly of finger, Micrognathia, Abdominal pain, Optic atrophy, Microtia, High palate, Clin...	ORPHA:2135
Cystic Fibrosis	Meconium ileus, Rectal prolapse, Diarrhea, Ileus, Hypercalciuria, Clubbing of fingers, Steatorrhe...	OMIM:219700
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Cleft palate, Ectopic anus, High palate, Camptodact...	ORPHA:251038
Williams-Beuren Syndrome	Feeding difficulties in infancy, Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesi...	OMIM:194050
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Protruding ear...	ORPHA:1131
Neuroendocrine Neoplasm Of Appendix	Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Poor a...	ORPHA:100079
Joubert Syndrome 2	Renal insufficiency, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst, Postaxial foot ...	OMIM:608091
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Hypoplasia ...	OMIM:305400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Optic atrophy, Renal hypoplasi...	OMIM:619321
Aredyld Syndrome	Abnormality of the ureter	ORPHA:1133
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Orofaciodigital Syndrome Xiv	Microretrognathia, Posteriorly rotated ears, Broad hallux, Hamartoma of tongue, Micrognathia, Epi...	OMIM:615948
Schinzel-Giedion Syndrome	Micrognathia, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Hepatoblastoma, Mic...	ORPHA:798
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv...	ORPHA:210122
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormal metacarpal morphology	ORPHA:3224
Primary Ciliary Dyskinesia	Intestinal malrotation, Clubbing, Recurrent otitis media, Conductive hearing impairment, Chronic ...	ORPHA:244
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent...	ORPHA:974
Opitz Gbbb Syndrome	Hypospadias, Rectourethral fistula, Cleft palate, Congenital posterior urethral valve, High palat...	OMIM:300000
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, High palate, Cubitus val...	OMIM:104350
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Irregular epiphyses, Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoke...	OMIM:619260
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Posteriorly rotated ears, Hypospadias, Nephroblastoma, Micrognathia...	OMIM:257300
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Single transverse palmar crease, Hydrocephalus, Cleft palate, Anteriorly placed anus...	OMIM:309801
Combined Oxidative Phosphorylation Defect Type 7	Oral-pharyngeal dysphagia, Optic atrophy, Paralytic ileus, Facial diplegia, Gastrostomy tube feed...	ORPHA:254930
Shprintzen-Goldberg Syndrome	Bowing of the long bones, Posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Micr...	ORPHA:2462
Cockayne Syndrome	High-frequency sensorineural hearing impairment, Optic disc pallor, Neurogenic bladder, Renal ins...	ORPHA:191
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Abnormal pinna morphology, Glutaric aciduria, Reye syndrome-like episodes, Lact...	ORPHA:26791
Tetraamelia Syndrome 1	Micrognathia, Hydrocephalus, Cleft palate, Urethral atresia, Hypoplastic pelvis, Anal atresia, Te...	OMIM:273395
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep...	ORPHA:397715
Pgm3-Cdg	Lactose intolerance, Mild neurosensory hearing impairment, Membranoproliferative glomerulonephrit...	ORPHA:443811
Mpdu1-Cdg	Optic atrophy, Absence of acoustic reflex, Renal cortical cysts, Hypsarrhythmia, Feeding difficul...	ORPHA:79323
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Wormian bones, Posteriorly rotated ears, Abnormality of the...	OMIM:130720
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly, Hamartoma of tongue	ORPHA:1338
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Proximal placement of thumb, Micrognathia, Cleft palate, Anteriorly plac...	OMIM:217980
Oculodentodigital Dysplasia	Neurogenic bladder, Abnormal pinna morphology, 4-5 finger syndactyly, Hip dislocation, Cleft pala...	OMIM:164200
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen...	OMIM:606164
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne...	ORPHA:99880
Joubert Syndrome 1	Optic disc pallor, Protruding tongue, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst...	OMIM:213300
1P36 Deletion Syndrome	Hypoplasia of penis, Feeding difficulties in infancy, Renal cyst, Gastroesophageal reflux, Clinod...	ORPHA:1606
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Arachnodactyly, Abnormality of the hand, Micrognathia, Sensorineural ...	ORPHA:536545
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Alkuraya-Kucinskas Syndrome	Overlapping toe, Micrognathia, Hydrocephalus, Cutaneous syndactyly, Micropenis, High palate, Tali...	OMIM:617822
Cystic Fibrosis	Hearing impairment, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesopha...	ORPHA:586
Gorlin-Chaudhry-Moss Syndrome	Conductive hearing impairment, Abnormal metacarpal morphology, Coronal craniosynostosis, Short di...	ORPHA:2095
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Ovarian cyst, ...	OMIM:311200
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anterior...	OMIM:305600
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Sagittal craniosynostosis, Hiatus hernia, Pancreatic cysts, Sensorineural hearing impairment, Ren...	OMIM:610199
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios...	OMIM:267010
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Posteriorly rotated ears, Tarsal synostosis, Multiple pterygia...	OMIM:178110
Alopecia Antibody Deficiency	Conductive hearing impairment	ORPHA:1006
Cystic Echinococcosis	Membranous nephropathy, Hepatic cysts, Renal cyst, Ovarian cyst	ORPHA:400
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Single transverse palmar crease, Micrognathia, 2-3 toe...	ORPHA:1596
Mucopolysaccharidosis Type 3	Otitis media, Thickened helices, Conductive hearing impairment, Chronic otitis media, Abnormality...	ORPHA:581
Meier-Gorlin Syndrome 6	Microretrognathia, Posteriorly rotated ears, Sandal gap, Patellar aplasia, Cleft palate, Feeding ...	OMIM:616835
Mosaic Trisomy 16	Syndactyly, Hypospadias, Single transverse palmar crease, Short thumb, Large placenta, Horseshoe ...	ORPHA:1708
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Abnormal pinna morphology, Posteriorly rotated ears, Hypospadias, Micrognathia, Senso...	OMIM:616975
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias	ORPHA:139466
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Ectopic kidney, External ear malfor...	ORPHA:2136
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Anal stenosis, Block vertebrae, Missing ribs, Myelomeningoc...	OMIM:613686
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Arachnodactyly, Sensorineural hearing impairment, Cl...	ORPHA:96129
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Wormian bones, Tapered finger, Flat acetabular roof, Anteriorly placed anus,...	OMIM:617159
Parathyroid Carcinoma	Renal insufficiency, Polydipsia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne...	ORPHA:143
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age...	OMIM:308205
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc...	OMIM:143095
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Crouzon Syndrome	Sagittal craniosynostosis, Optic atrophy, High palate, Atresia of the external auditory canal, La...	OMIM:123500
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Patent ductus arteriosus, Unilateral renal agenesis	ORPHA:141099
Bohring-Opitz Syndrome	Joint dislocation, Syndactyly, Prominent metopic ridge, Bilateral cleft palate, Overlapping toe, ...	OMIM:605039
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Renal cortical cysts	OMIM:609180
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Tuberous Sclerosis Complex	Renal insufficiency, Hyperactivity, Abnormality of the kidney, Impulsivity, Aggressive behavior, ...	ORPHA:805
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Finger syndactyly, Hypospadias, Cleft palate	ORPHA:66629
Okamoto Syndrome	Exaggerated median tongue furrow, Prominent metopic ridge, Anal stenosis, Urinary incontinence, I...	ORPHA:2729
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Sensorineural hearing impairment, Cleft palate, Hip dysplasia, Abn...	ORPHA:90354
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Aplasia/Hypoplasia of the middl...	OMIM:151050
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Sensorineural hearing impairment, Esophageal stricture,...	OMIM:615816
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Abdominal pain, Sensorineural hearing impairment, Ileus, Constipation, Mic...	ORPHA:163746
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Me...	OMIM:123450
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
Opitz Gbbb Syndrome	Prominent metopic ridge, Hypospadias, Craniosynostosis, Micrognathia, Tracheoesophageal fistula, ...	ORPHA:2745
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent fingertip pads, Thickened helices, Cleft soft palate, Tapered finger, Long fingers, Hig...	OMIM:619950
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:263520
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Joubert Syndrome 39	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:619562
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Recurrent urinary tract infections, Abnormal auditory evoked potentials,...	ORPHA:99027
Frontorhiny	Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplastic frontal sinuses, Cleft pa...	ORPHA:391474
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Rhizomelia, Hypospadias, Micr...	ORPHA:709
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft palate, Hand polydactyly, Talipes equinovarus, Bladder exstrophy	OMIM:217100
Lipodystrophy, Congenital Generalized, Type 4	Pyloric stenosis, Ileus, Feeding difficulties, Constipation, Dysphagia	OMIM:613327
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Nasogastric ...	ORPHA:206436
Xp22.3 Microdeletion Syndrome	Ectopic anus	ORPHA:1643
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Cleft palate, ...	OMIM:616038
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Intestinal bleeding, Anal canal squamous ...	ORPHA:424019
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Aminoaciduria, High palate, Umbilical hernia	OMIM:614520
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Attention deficit hyperactivity disorder	OMIM:191100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly	ORPHA:60040
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, ...	ORPHA:818
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Hypospadias, Camptodactyly of finger, Meningocele, Abnormality of the ureter, ...	ORPHA:2311
Fraser Syndrome 3	Hypoplasia of penis, Micrognathia, Short toe, Hydrocephalus, Cutaneous syndactyly, Ureteral agene...	OMIM:617667
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Macroglossia, High palate, Camptodactyly, Umbilical hernia, ...	ORPHA:369891
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Intestinal...	ORPHA:2308
Pycnodysostosis	Persistent open anterior fontanelle, Rhizomelia, Micrognathia, Acromelia, Small hand, Short foot,...	ORPHA:763
Poliomyelitis	Abnormal motor nerve conduction velocity, Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea	ORPHA:2912
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Chromosome 6Q24-Q25 Deletion Syndrome	Sandal gap, High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Small hand, Anterior...	OMIM:612863
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Uplifted earlobe, Broad 2nd toe, Clinodactyly, Overfolded helix, Pa...	OMIM:280000
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Aplastic clavicle, Postaxial polydactyly, Hamartoma of tongue, Preaxial polydactyly, ...	OMIM:616546
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Death in chi...	OMIM:212065
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Hypospadias, Intestinal malrotation, Long fingers, Cutaneous syndactyl...	OMIM:618316
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis	ORPHA:90348
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Urethral atresia, Short ribs, Hydronephrosis, An...	OMIM:271520
Joubert Syndrome 21	Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Renal cyst, Short ribs, Dysphagia...	OMIM:615636
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli...	ORPHA:1005
Adams-Oliver Syndrome 5	Syndactyly, Umbilical hernia, Esophageal varix, Brachydactyly	OMIM:616028
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Anal stenosis, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutan...	OMIM:620029
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat...	OMIM:615349
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath...	ORPHA:783
Isolated Cleft Lip	Velopharyngeal insufficiency, Abnormal Eustachian tube morphology, Talipes equinovarus, Conductiv...	ORPHA:199302
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Fee...	OMIM:614557
Grange Syndrome	Syndactyly, Renovascular hypertension, Finger clinodactyly, Renal artery stenosis, Brachydactyly	OMIM:602531
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Renal cyst, Gastroeso...	OMIM:113620
Lathosterolosis	Toe syndactyly, Micrognathia, Postaxial hand polydactyly, Horseshoe kidney, Postaxial foot polyda...	OMIM:607330
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per...	ORPHA:206443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Meningoencephalocele, Hydrocephalus, Cleft palate, Anal at...	OMIM:236670
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bilateral renal dysplasia, Unilateral renal agenesis, Dysplastic corpus callosum, Patent ductus a...	ORPHA:500150
Oliver Syndrome	Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Knee f...	ORPHA:2920
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Mixed hearing impairment, Multicystic kidney dysplasia, Pos...	ORPHA:97360
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Broad hallux, Intestinal malrotation, Avascular ...	ORPHA:353281
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Feeding difficulties in infancy, High palate, Gastroesophageal reflux, Thickened ...	OMIM:607872
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Attention de...	OMIM:613254
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Renal insufficiency, Feeding difficulties in infancy, Postaxial han...	ORPHA:1454
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Hydroureter, Camptodactyly of finger, Abnormality of the hand, A...	ORPHA:2273
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger...	ORPHA:480880
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Nasogastric tube feeding in infancy, Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphys...	ORPHA:99646
Native American Myopathy	Submucous cleft soft palate, Micrognathia, Cleft palate, Feeding difficulties, High palate, Talip...	ORPHA:168572
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho...	OMIM:615789
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Abdominal pain, Pancreatic cysts, Vertigo, Renal cyst, Vomiting,...	ORPHA:284
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate...	OMIM:271640
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clino...	ORPHA:373
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High palate, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High palate, ...	ORPHA:353277
Ring Chromosome 12 Syndrome	Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Glandular hypospadias, Symphalan...	ORPHA:1439
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Gastroesophageal reflux, Conductive hearing impair...	OMIM:194190
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, C...	OMIM:613717
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Patent ductus arteriosus, Ovaria...	OMIM:188400
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly	ORPHA:2890
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Cleft palate	ORPHA:1252
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly	OMIM:614800
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ureteral stenosis, Single transverse palmar crease, Rock...	OMIM:272950
Generalized Arterial Calcification Of Infancy	Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Hyperphosph...	ORPHA:51608
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Sensorineural...	ORPHA:576
Alagille Syndrome	Nephrotic syndrome, Spina bifida occulta, Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:52
Leukocyte Adhesion Deficiency Type Ii	Recurrent urinary tract infections, Overlapping toe, Protruding tongue, Chronic diarrhea, Broad p...	ORPHA:99843
Monosomy 18Q	Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Sensorineural hearing impairment...	ORPHA:1600
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Ethmoidal encephalocele	ORPHA:280195
C Syndrome	Low-set, posteriorly rotated ears, Joint dislocation, Multicystic kidney dysplasia, Toe syndactyl...	ORPHA:1308
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defect...	OMIM:618175
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Intestinal polyposis, Multicystic kidney dysplasia, Micrognath...	ORPHA:1052
Rabin-Pappas Syndrome	Optic nerve hypoplasia, Micrognathia, Sensorineural hearing impairment, Feeding difficulties, Con...	OMIM:620155
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Ureteral duplication, Aggressive behavior, Duplication of renal pelvis, Inappropriate laughter, S...	ORPHA:457212
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Mixed hearing impairment, Oligosacchariduria, Macroglossia, Recurrent gastroen...	ORPHA:309288
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Cleft palate, High palate, Camptodactyly, Micropenis,...	OMIM:614230
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Joubert Syndrome 5	Occipital encephalocele, Aggressive behavior, Impaired renal concentrating ability, Stage 5 chron...	OMIM:610188
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Papilledema, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvi...	ORPHA:371428
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to...	ORPHA:3255
Marshall-Smith Syndrome	Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossoptosis, High palate, Cli...	OMIM:602535
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Syndactyly, Clinodactyly, Hydrocephalus	ORPHA:2169
Raine Syndrome	Mixed hearing impairment, Hydroureter, Abnormal pinna morphology, Posteriorly rotated ears, Micro...	OMIM:259775
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy, Vomiting, Feeding difficulties	OMIM:616881
Sacral Defect With Anterior Meningocele	Absence of the sacrum, Neurogenic bladder, Myeloschisis, Myelomeningocele, Hydrocephalus, Meningo...	OMIM:600145
Acute Transverse Myelitis	Orthostatic hypotension, Gastroparesis, Urinary incontinence, Paralytic ileus, Urinary retention,...	ORPHA:139417
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s...	ORPHA:158684
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Diarrhea, Optic atrophy, M...	ORPHA:90321
Pheochromocytoma/Paraganglioma Syndrome 1	Conductive hearing impairment, Pulsatile tinnitus	OMIM:168000
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Tr...	OMIM:149730
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Cleft palate, Micropenis, Anteriorly placed anus, Mesomelia, Camptodact...	OMIM:616894
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Absence of the sacrum, Ureteral stenosis, Intestinal malrotation, Renal hyp...	OMIM:270100
Pancreatic insufficiency, combined exocrine	Anal atresia	OMIM:260450
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre...	ORPHA:464329
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Bowing of the long bones, Heari...	ORPHA:955
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypospadias, Absent tragus, Cleft palate, ...	OMIM:603457
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Submucous cleft hard pa...	ORPHA:178303
Cardiac-Valvular Ehlers-Danlos Syndrome	Joint dislocation, Hallux valgus, Genu recurvatum, Sandal gap, Recurrent shoulder dislocation, Lo...	ORPHA:230851
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Femoral bowing, Anteriorly placed anus, Conductive hearing impairment, Micropenis, Simple ear, Hy...	OMIM:201750
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c...	OMIM:268300
Developmental Delay, Hypotonia, And Impaired Language	Mixed hearing impairment, Feeding difficulties, Gastroesophageal reflux, Constipation	OMIM:620012
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Micrognathia, Esophageal atresia, Tracheoesopha...	OMIM:265380
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, High palate, Proximal placement of thumb	ORPHA:139471
Dextrocardia	Abnormal renal morphology, Abnormality of the ureter	ORPHA:1666
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Cleft palate, Anal stenosis, Aganglionic megacolon, Shortening of all distal phalanges of the fin...	OMIM:614207
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad...	ORPHA:79403
Beta-Ureidopropionase Deficiency	Bladder exstrophy, Anal atresia	OMIM:613161
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Hypospadias, High, narrow pa...	ORPHA:464738
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Renal insufficiency, Recurrent urinary tract inf...	ORPHA:731
Hamamy Syndrome	Long toe, Syndactyly, Down-sloping shoulders, Craniosynostosis, Tapered finger, Micrognathia, Lon...	OMIM:611174
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Feeding difficulties	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Feeding difficulties	ORPHA:529808
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Toe clinodactyly, Cli...	ORPHA:217346
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi...	ORPHA:2886
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Broad hallux, Single transverse palmar crease, Facial palsy, Micrognath...	OMIM:620186
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Impulsivity, Dysphagia, Urinary urgency, Stereotypical body rocking, B...	OMIM:619503
Cerebrooculonasal Syndrome	Posteriorly rotated ears, Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Postax...	OMIM:605627
Cranioectodermal Dysplasia 2	Syndactyly, Renal insufficiency, Brachydactyly, Rhizomelia, Craniosynostosis, Micrognathia, Posta...	OMIM:613610
Mend Syndrome	Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Long fingers, 2...	ORPHA:401973
Microcephaly 3, Primary, Autosomal Recessive	Mixed hearing impairment, Sensorineural hearing impairment	OMIM:604804
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Micrognathia, Shortening of all distal phalanges of the fingers, Anteriorl...	ORPHA:247262
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Umbilical hernia, Abnormal met...	ORPHA:1517
Calvarial Doughnut Lesions With Bone Fragility	Mixed hearing impairment, Femoral bowing	OMIM:126550
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ...	OMIM:603671
Luscan-Lumish Syndrome	Recurrent otitis media, Advanced ossification of carpal bones, Polycystic ovaries	OMIM:616831
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ...	OMIM:271510
Lethal Acantholytic Erosive Disorder	4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th finger, 3-4 f...	ORPHA:158687
Turnpenny-Fry Syndrome	Overlapping toe, Tapered finger, Feeding difficulties in infancy, Long fingers, Clinodactyly, Sma...	OMIM:618371
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Aplasia/Hypoplasia of the tongue, Tapered finger, ...	ORPHA:193
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Cranial nerve compression, Optic atrophy, Proximal renal tubular acidosis, Nephroli...	ORPHA:2785
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Hypospadias, Aplastic clavicle, Abnormal metacarpal...	ORPHA:2658
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, Multiple joint dislocation, High palate, Renal neoplasm, Arac...	ORPHA:536467
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Chronic con...	ORPHA:79330
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Urinary incontinence, EEG abnormality	ORPHA:206448
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Tapered finger, 2-3 toe syndactyly, Anteriorly placed anus, High palate, Vesicou...	OMIM:618653
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Calcaneal epiphyseal stippling, Optic nerve hypoplasia, Epiphyseal stip...	ORPHA:79345
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Mixed hearing impairment, Low-set ears, Thickened helices, Overfolded helix, Brachydactyly	OMIM:608624
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Epispa...	ORPHA:289
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol...	OMIM:209900
Congenital Tracheal Stenosis	Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophageal fistula, Duodenal steno...	ORPHA:141127
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diarrhea, Vestibular areflexia, Vomiting	ORPHA:3240
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Microti...	ORPHA:861
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Finger syndactyly, Submucous cleft soft palate, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:1071
Oculocerebrorenal Syndrome Of Lowe	Micrognathia, Feeding difficulties in infancy, Oligosacchariduria, Nephrocalcinosis, Protruding e...	ORPHA:534
Ciliary Dyskinesia, Primary, 1	Conductive hearing impairment, Absent frontal sinuses, Chronic otitis media	OMIM:244400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Toe syndactyly, Hydroureter, Hypoplastic sacrum, Absence of Stensen duct, Split ha...	OMIM:604292
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the ureter	ORPHA:3253
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Esophageal stricture, N...	ORPHA:2908
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Renal cyst, Anteriorly...	OMIM:601803
Deafness, Autosomal Recessive 88	Mixed hearing impairment	OMIM:615429
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Clinodactyly of the 5th finger, Syndactyly, Bifid uvula, Broad palm	OMIM:618505
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Delayed closure of the anterior fontan...	ORPHA:96182
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Sensorineural hearing impairment, Cupped ear, Optic disc coloboma, Chro...	OMIM:300472
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl...	ORPHA:991
Solitary Rectal Ulcer Syndrome	Rectal prolapse, Anal fissure, Stercoral ulcer	ORPHA:209964
Meckel Syndrome	Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Bowing of ...	ORPHA:564
X Small Rings	Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,...	ORPHA:96201
Craniosynostosis And Dental Anomalies	Hallux valgus, Stapes ankylosis, Prominent metopic ridge, Papilledema, Broad hallux, Absent malle...	OMIM:614188
Peutz-Jeghers Syndrome	Ovarian cyst, Abnormality of the ureter, Bladder polyp	OMIM:175200
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Broad palm, Narrow pal...	OMIM:227330
Cockayne Syndrome A	Hip contracture, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory e...	OMIM:216400
Tetrasomy 9P	Joint dislocation, Glue ear, Micrognathia, High palate, Clinodactyly of the 5th finger, Micropeni...	ORPHA:3310
Mowat-Wilson Syndrome	Urinary incontinence, Uplifted earlobe, Cleft hard palate, Gastrointestinal dysmotility, Calcaneo...	ORPHA:2152
Beare-Stevenson Cutis Gyrata Syndrome	Overlapping toe, Hypospadias, Craniosynostosis, Hydrocephalus, Narrow palate, Anteriorly placed a...	OMIM:123790
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Pe...	ORPHA:306542
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Abnormality of the...	ORPHA:1556
Faundes-Banka Syndrome	Micrognathia, Feeding difficulties in infancy, Cupped ear, Cleft palate, Chronic constipation, Mi...	OMIM:619376
Cockayne Syndrome B	Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,...	OMIM:133540
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Cleft palate, Popliteal pterygium	ORPHA:1300
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Papilledema, Camptodactyly of finger, Heparan sulfate excretion in urine, Sensorine...	ORPHA:217085
Microphthalmia, Lenz Type	Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Abnormal shoulder morpholog...	ORPHA:568
Nijmegen Breakage Syndrome	Anal stenosis, Anorectal anomaly, Cleft palate, Pollakisuria, Anal atresia	ORPHA:647
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Knee flexion contracture, Abnormal calcification of...	OMIM:271665
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormality of the hand, Abnormal auditory evoked potentials, Decreased nerve ...	ORPHA:909
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Spina...	OMIM:256520
Caroli Disease	Polycystic kidney dysplasia, Anorexia	ORPHA:53035
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Papilledema, Camptodactyly of finger, Heparan sulfate excretion in urine, Sensorine...	ORPHA:217093
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Sensorineural hearing impairment, Microtia, High palate, Low-set ears, Conductive hearing impairm...	OMIM:618500
Kbg Syndrome	Syndactyly, Vertebral fusion, Single transverse palmar crease, Epispadias, Cutaneous syndactyly, ...	OMIM:148050
Histiocytoid Cardiomyopathy	Agenesis of corpus callosum, Renal cyst, Polycystic ovaries	ORPHA:137675
Hartsfield Syndrome	Syndactyly, Hypospadias, Craniosynostosis, Alobar holoprosencephaly, Cleft palate, Lobar holopros...	OMIM:615465
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, High palate, Abnor...	ORPHA:284160
Congenital Myopathy 13	Micrognathia, Cleft palate, Feeding difficulties, High palate, Bilateral talipes equinovarus, Low...	OMIM:255995
Pearson Syndrome	Renal insufficiency, Median cleft lip and palate, Proteinuria, Exocrine pancreatic insufficiency,...	ORPHA:699
Sclerosteosis 1	Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C...	OMIM:269500
Sotos Syndrome	Ureteral duplication, Gastroesophageal reflux, Vesicoureteral reflux, Conductive hearing impairme...	ORPHA:821
Prader-Willi Syndrome	Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Micropenis, Hip dysplas...	OMIM:176270
Axenfeld-Rieger Syndrome, Type 2	Umbilical hernia, Anal stenosis, Hypospadias, Hydrocephalus	OMIM:601499
Craniofacial Microsomia 1	Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Block vertebrae, Renal agenesis...	OMIM:164210
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Attention deficit hyperactivity disorder, Hypospadias, Renal cyst, Aggressive behavior	ORPHA:495875
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Mixed hearing impairment, Optic atrophy, Cleft palate, Acetabular dysplasia, Br...	OMIM:201180
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Fontaine Progeroid Syndrome	Syndactyly, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Protruding tongue, High, na...	OMIM:612289
Branchioskeletogenital Syndrome	Attached earlobe, Amelia involving the lower limbs, Mixed hearing impairment, Ureteral stenosis, ...	ORPHA:1299
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Protruding ear, Vomiting, High palate, Clinodactyly of ...	OMIM:300855
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Esophageal stricture, Mitten deformity, Ankyloglossia, Abnorma...	ORPHA:89842
Elsahy-Waters Syndrome	Anal stenosis, Hypospadias, Abnormality of the anus, Shortening of all phalanges of fingers, Ante...	OMIM:211380
Alpha-Mannosidosis, Infantile Form	Optic disc pallor, Mixed hearing impairment, Recurrent urinary tract infections, Craniosynostosis...	ORPHA:309282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Multicystic kidney dysplasia, Anencephaly, Micropenis, Agenesis of corpu...	OMIM:615287
Von Hippel-Lindau Disease	Papilledema, Elevated urinary catecholamine level, Abdominal pain, Pancreatic cysts, Vertigo, Ren...	ORPHA:892
Beckwith-Wiedemann Syndrome	Ureteral duplication, Otosclerosis, Prominent metopic ridge, Nephroblastoma, Hepatoblastoma, Feed...	ORPHA:116
Rapp-Hodgkin Syndrome	Syndactyly, Hypospadias, 2-3 toe cutaneous syndactyly, Velopharyngeal insufficiency, Cleft palate...	OMIM:129400
Beckwith-Wiedemann Syndrome	Prominent metopic ridge, Nephroblastoma, Hepatoblastoma, Nephrolithiasis, Renal cortical cysts, N...	OMIM:130650
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Proximal placeme...	ORPHA:1896
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Myasthenic Syndrome, Congenital, 21, Presynaptic	Feeding difficulties, Meconium ileus, Knee flexion contracture	OMIM:617239
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Micrognathia, Short thumb, Small hand, Short foot, Anteriorly placed ...	OMIM:268400
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Anteriorly placed anus, Cutaneous finger syndactyly, Talipes eq...	OMIM:200110
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Palmoplantar cutis gyrata, Hydrocephalus, Narrow palate, Cleft palate, Anterior...	ORPHA:1555
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, High, narrow palate, Coxa vara, Short ...	ORPHA:3107
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin...	ORPHA:449395
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Craniosynostosis, Aplasia/Hypoplasia involving bones of the skull, Unilateral brachyd...	ORPHA:1521
Common Variable Immunodeficiency	Gastrointestinal stroma tumor, Anal atresia	ORPHA:1572
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Enlarged pol...	ORPHA:744
Recombinant 8 Syndrome	Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormality of the anus, Cleft palate, C...	ORPHA:96167
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Mucopolysaccharidosis Type 2	Otosclerosis, Papilledema, Decreased nerve conduction velocity, Sensorineural hearing impairment,...	ORPHA:580
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Clubbing, Joint swelling, High palate, Clinod...	ORPHA:96123
Caroli Syndrome	Cholangiocarcinoma, Abnormality of the kidney, Abdominal pain, Hematemesis, Esophageal varix, Abd...	ORPHA:480520
Mitchell-Riley Syndrome	Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M...	OMIM:615710
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Micrognathia, High, narrow palate, High palate, Hypoplastic ilia...	OMIM:180849
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Holoprosencephaly, Clinodactyly...	ORPHA:1587
Johanson-Blizzard Syndrome	Colonic diverticula, Hypospadias, Single transverse palmar crease, Urethrovaginal fistula, Malabs...	OMIM:243800
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias	ORPHA:782
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Nephrotic syndrome, Anal fissure, Ulcerative colitis	OMIM:618935
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Uplifted earlobe, Cleft hard palate, Calcaneovalgus deformity, Vesicoureter...	ORPHA:261537
Schwartz-Jampel Syndrome	Death in infancy, Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, ...	ORPHA:800
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short hard palate, Genu varum	ORPHA:1969
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure...	ORPHA:2907
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, High palate, Clinodactyly of...	ORPHA:1974
Toriello-Carey Syndrome	Aganglionic megacolon, Micrognathia, Cleft palate, Anteriorly placed anus, High palate, Clinodact...	ORPHA:3338
Thoracoabdominal Syndrome	Anencephaly, Patent ductus arteriosus, Renal agenesis, Hypospadias	OMIM:313850
Adult Syndrome	Finger syndactyly, Toe syndactyly, Split foot	ORPHA:978
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Microtia, Abnormal parotid gland morphology, Atres...	OMIM:154500
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Hypospadias, Anal atresia	OMIM:180500
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Hypospadias, Jejunal atresia, Ileal atresia, Micrognathia, Chordee, Holoprosencephaly...	OMIM:618820
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Uplifted earlobe, Cleft hard palate, Calcaneovalgus deformity, Vesicoureter...	ORPHA:261552
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, High-frequency sensorineural hearing impairment, Coxa valga, Mi...	ORPHA:740
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Phimosis, Urethral stenosis, Palmoplantar hyperkeratosis, Ora...	OMIM:173650
Incontinentia Pigmenti	Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f...	ORPHA:464
Oculotrichoanal Syndrome	Anteriorly placed anus, Anal stenosis	ORPHA:2717
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
White-Kernohan Syndrome	Hydroureter, Horseshoe kidney, Anteriorly placed anus, Hip dysplasia, Rectovaginal fistula, Metop...	OMIM:619426
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Craniosynos...	OMIM:610168
Dubowitz Syndrome	Syndactyly, Hypospadias, Single transverse palmar crease, Micrognathia, Velopharyngeal insufficie...	OMIM:223370
Congenital Fibrosis Of Extraocular Muscles	Hand oligodactyly	ORPHA:45358
Omphalocele Syndrome, Shprintzen-Goldberg Type	Anal atresia	ORPHA:3164
Shprintzen Omphalocele Syndrome	Anal atresia	OMIM:182210
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, 11 pairs of ribs, Aplasia/Hypoplasia of the ph...	ORPHA:79500
Bloom Syndrome	Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly	OMIM:210900
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Macrotia, Conductive hearing impairmen...	ORPHA:3042
Coffin-Siris Syndrome 12	Hypospadias, Micrognathia, Celiac disease, Short thumb, Slender finger, Velopharyngeal insufficie...	OMIM:619325
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Anal stenosis	OMIM:248450
Neurocardiofaciodigital Syndrome	Vesicoureteral reflux, Syndactyly, High palate, Polydactyly	OMIM:619869
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Intestinal ble...	ORPHA:424016
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ectopic kidney, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, B...	ORPHA:1519
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clino...	OMIM:620025
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Anal fissure, Chronic kidney disease...	ORPHA:79408
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Chronic gastritis, Single transverse palmar creas...	OMIM:150230
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Anteriorly placed anus	ORPHA:26793
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate...	OMIM:619573
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Syndactyly, Renal insufficiency, Postaxial polydactyly, Aqueductal stenosis, Hydrocep...	OMIM:619534
Neonatal Inflammatory Skin And Bowel Disease	Anal fissure, Perianal dermatitis	ORPHA:294023
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Long fingers, Cutaneous syndactyly, Bifid uvula, High palate, Toe clinodactyly, Umbil...	OMIM:620330
Relapsing Polychondritis	Renal insufficiency, Proteinuria, Hematuria, Arthritis, Anteriorly placed anus	ORPHA:728
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Anteriorly placed anus, Rectoperineal fistula, Metopic synostosis	OMIM:618748
Pmm2-Cdg	Abnormal pinna morphology, Proteinuria, Long fingers, Feeding difficulties, Nephrotic syndrome, M...	ORPHA:79318
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Anteriorly placed anus, Ketonuria, Hypospadias, Micrognathia	OMIM:220111

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sall1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sall1.

No publications found that use IMPC mice or data for Sall1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Sall1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sall1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Sall1^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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