Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Fraser extracellular matrix complex subunit 1
Synonyms:
E130113P14Rik,  bl

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Fras1 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.

The table below shows human diseases associated to Fras1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Fras1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Orofaciodigital Syndrome Xviii
Accessory oral frenulum, Short philtrum, Upslanted palpebral fissure, Cervical ribs, Brachydactyl... OMIM:617927
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:615573
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Thick eyebrow, Clinodactyly of the 5th finger, Abnormality of the philtrum, Ab... ORPHA:3268
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Nephrotic Syndrome, Type 2
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:600995
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Foc... OMIM:610725
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Erythema Elevatum Diutinum
Vasculitis in the skin, Skin nodule, Skin vesicle ORPHA:90000
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Telecanth... OMIM:129540
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Mitten deformity, Keloids, Hyperkeratotic papule, Oral mucosal blisters, Atypical scarring of ski... ORPHA:79410
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Palant Cleft Palate Syndrome
Upslanted palpebral fissure, Contracture of the proximal interphalangeal joint of the 5th finger,... OMIM:260150
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Glomerular sclerosis, Nephrotic syndrome, Thickened glomerular ... OMIM:619155
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Cryptophthalmos, Absent eyelashes, Short metacarpal, Ablepharon, Absent eyebrow, ... OMIM:200110
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Atypical scarring of skin, Abnormal thorax morphology, Polydactyly,... ORPHA:294975
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Fraser Syndrome 2
Renal agenesis, Cryptophthalmos, Cutaneous syndactyly, Renal hypoplasia, Aplasia of the bladder OMIM:617666
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:603278
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Bifid uvula, Bifid distal phalanx of the thumb, Hydronephrosis, Broad ... ORPHA:2669
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly, Pectus excavatum... OMIM:605967
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... OMIM:254900
Crossed Polysyndactyly
Upslanted palpebral fissure, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of pe... ORPHA:2935
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Focal segmental glomeruloscler... OMIM:618349
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Triphalangeal thumb OMIM:256690
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Partial duplication of eyebrows, Periorbital wrinkles, 2-3 toe syndactyly, Long eyelashes, 2-4 fi... OMIM:227210
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula, Nephrotic syndrome, Short distal phalanx of the thumb, Bifid distal phalanx of the t... OMIM:256200
Darier Disease
Acrokeratosis, Plantar pits, Macule, Hypermelanotic macule, Skin vesicle ORPHA:218
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Bardet-Biedl Syndrome 6
Renal cyst, Syndactyly, Hypospadias, Polydactyly OMIM:605231
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Micrognathia, Ventricular septal defect, Split foot OMIM:601348
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Upslanted palpebral fissure, Absent palmar crease, Pterygium, Ablephar... OMIM:263650
Dowling-Degos Disease
Epidermoid cyst, Digital pitting scar, Hypopigmented macule, Skin vesicle, Penile freckling, Palm... ORPHA:79145
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Upslanted palpebral fissure, Flattened epiphysis, Fixed elbow flexion, Fibular hyp... ORPHA:166016
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilateral renal agenesis, ... OMIM:618845
Familial Benign Chronic Pemphigus
Erythema, Skin vesicle, Skin erosion ORPHA:2841
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Macule, Melanocytic nevus, Hypopigmented skin patches, Abnormal rib morphology ORPHA:2435
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... OMIM:613091
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae, Facial erythema, Erythematous plaque, Palmoplantar erythema, Erythematous papul... ORPHA:64745
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Upslanted palpebral fissure, Bilateral talipes equinovarus, Patent duc... OMIM:618142
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Hypoplasia of proximal radius, Long philtrum, Cleft soft palate, Multipl... ORPHA:2756
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Preaxial hand polydactyly, Synophrys, Oral cleft, Large hands ORPHA:85287
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Frasier Syndrome
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:136680
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Brachydactyly, Polydactyly OMIM:617405
Ablepharon Macrostomia Syndrome
Toe syndactyly, Cryptophthalmos, Absent eyelashes, Ablepharon, Abnormal hair pattern, Excessive w... ORPHA:920
Lichen Planus Pemphigoides
Skin vesicle, Blepharitis, Conjunctivitis, Abnormal oral mucosa morphology ORPHA:254478
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis, Hand polydactyly OMIM:235740
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of thumb, Proximal placemen... OMIM:218530
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Short distal phalanx of fi... OMIM:311895
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate, Ankyloblepharon OMIM:106250
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Metacarpophalangeal joint contracture, Camptodactyly of f... OMIM:619110
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Renal cyst, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndact... OMIM:236500
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Brachydactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Dow... ORPHA:3306
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot poly... ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Renal cyst, Bilateral triphalangeal thumbs OMIM:138790
Fraser Syndrome 3
Cryptophthalmos, Short toe, Cutaneous syndactyly OMIM:617667
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Ankyloblepharon, Cleft palate, Non-midline cleft lip ORPHA:1074
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Abnormal palate morphology, Radial club hand, Short metacarpal, Thick eyebrow, Pre... ORPHA:1278
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Missing ribs, Single transverse palmar crease, 2-3 toe syndact... OMIM:617866
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
15Q11Q13 Microduplication Syndrome
Downslanted palpebral fissures, Clinodactyly of the 5th finger, Finger syndactyly, Epicanthus ORPHA:238446
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Long philtrum, Thick eyebrow, Ptosis, Preaxial hand polydactyly, Interphalangeal joint contractur... OMIM:606242
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Papule, Ptosis, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin... ORPHA:257
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chron... OMIM:617730
Weaver Syndrome
Finger syndactyly, Hypoplastic toenails, Sandal gap, Hypoplasia of penis, Fine hair, Thin nail, D... ORPHA:3447
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Broad hallux, Cubitus valgus, Humeroradial synostosis, Broad th... OMIM:612961
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Foamy urine, Stage 5 chronic ki... ORPHA:656
Nager Syndrome
Unilateral renal agenesis, Phocomelia, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the... ORPHA:245
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Glossoptosis, Abnorma... ORPHA:3104
Bowen-Conradi Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Micrognathia OMIM:211180
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Bowing of the arm, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Cutis laxa, Adducted thumb, Premature skin wrinkling, Talipes equinova... OMIM:616603
Intellectual Developmental Disorder, X-Linked 90
Upslanted palpebral fissure, High palate, Bifid uvula, Enuresis, Narrow chest OMIM:300850
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis, Short palm, Bifid distal phalanx of the thumb, Broad palm, Sparse eyeb... OMIM:618419
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Focal segmental glomerulosclerosis, Nephropathy OMIM:617056
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Upslanted palpebral fissure, Vesicoureteral reflux ORPHA:2512
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, High palate, Clinodactyly, Bifid uvula, Long thumb,... OMIM:618658
Wells Syndrome
Skin vesicle ORPHA:901
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Lacrimal duct aplasia, Cleft palate, Cutaneous finger syndact... DECIPHER:46
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Juberg-Hayward Syndrome
Toe syndactyly, Horseshoe kidney, Abnormality of finger, Hammertoe, Abnormal metacarpal morpholog... ORPHA:2319
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Telecanthus, Milia, Cleft palate, Median cleft lip, Syndac... OMIM:300484
Mosaic Trisomy 14
Ectopic anus, High palate, Camptodactyly of finger, Blepharophimosis, Hypospadias, Hypoplasia of ... ORPHA:1703
Au-Kline Syndrome
High palate, Hip dysplasia, Sacral dimple, Sparse lateral eyebrow, Open mouth, Oligodontia, Ptosi... OMIM:616580
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Fraser Syndrome 1
Myelomeningocele, Anophthalmia, Cryptophthalmos, Renal hypoplasia/aplasia, Absent eyelashes, Micr... OMIM:219000
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Aplasia/Hypoplasia of the eyebrow, Microdontia, Short uvula, Polycystic kidney dysplasia, Microme... OMIM:614091
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Acrofrontofacionasal Dysostosis
Brachydactyly, Hypopigmented skin patches, Abnormality of epiphysis morphology, Aplasia/Hypoplasi... ORPHA:1784
Acromelic Frontonasal Dysostosis
Cleft upper lip, Preaxial polydactyly, U-Shaped upper lip vermilion, Ptosis, Polydactyly, Downsla... OMIM:603671
Oculotrichoanal Syndrome
Anophthalmia, Cryptophthalmos, Abnormal hair pattern, Nasolacrimal duct obstruction, Microphthalm... ORPHA:2717
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis, Patent ductus arteriosus, Abnormal hair morphology, Preaxial hand poly... OMIM:608406
Hennekam-Beemer Syndrome
High palate, Upslanted palpebral fissure, Arrhythmia, Clinodactyly of the 5th finger, Thick lower... ORPHA:2135
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
3Mc Syndrome 3
Clinodactyly, Cleft upper lip, Horseshoe kidney, Sacral dimple, Micropenis, Blepharophimosis, Pre... OMIM:248340
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Micrognathia OMIM:172880
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Endocrine-Cerebroosteodysplasia
Brachydactyly, Enlarged kidney, Cleft upper lip, Micropenis, Sandal gap, Preaxial polydactyly, Sh... OMIM:612651
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Malar flattening, Split hand, Split foot OMIM:183700
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger, Hydranencephaly OMIM:601355
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Glomerular sclerosis, Congenital nephrotic syndrome, Proteinuria, Re... OMIM:256300
Braddock Syndrome
Unilateral renal agenesis, Abnormal hair pattern, Preaxial hand polydactyly, Epicanthus, Blepharo... ORPHA:52047
Bardet-Biedl Syndrome 4
Brachydactyly, Renal cyst, Abnormality of the kidney, Polydactyly, Syndactyly OMIM:615982
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Absent lacrimal punctum, Clinodactyly of the 5th finger, Lower eyelid c... OMIM:167730
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Split foot, Foot oligodactyly... OMIM:183600
Bartsocas-Papas Syndrome
Absent thumb, Toe syndactyly, Popliteal pterygium, Talipes, Finger syndactyly, Hypoplastic toenai... ORPHA:1234
Arthrogryposis, Distal, Type 3
High palate, Bifid uvula, Single transverse palmar crease, Short phalanx of finger, Congenital hi... OMIM:114300
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Syndactyly, Lacrimal duct atresia, Cleft palate, Hallux valgus, Camptoda... OMIM:603543
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Dermatitis Herpetiformis
Macule, Erythema, Skin vesicle ORPHA:1656
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Premature ventricular contraction, Aplasia/Hypo... OMIM:192445
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Intellectual Developmental Disorder, Autosomal Dominant 36
Unilateral renal agenesis, Broad hallux, Downslanted palpebral fissures, Postaxial polydactyly, A... OMIM:616362
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Pyoderma Gangrenosum
Skin ulcer, Papule, Skin vesicle, Atrophic scars ORPHA:48104
Pemphigus Foliaceus
Abnormal oral mucosa morphology, Annular cutaneous lesion, Erythema, Erythematous plaque, Serpigi... ORPHA:79481
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Telecanthus, Aniridia OMIM:206750
Fraser Syndrome
Toe syndactyly, Myelomeningocele, Finger syndactyly, Cryptophthalmos, Anophthalmia, Renal hypopla... ORPHA:2052
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Upslanted palpebral fissure, Clinodactyly, Partial duplication of the phalanx of h... OMIM:616331
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Telec... OMIM:165590
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Cleft upper lip, Brachydactyl... OMIM:277170
Craniosynostosis, Philadelphia Type
Long palpebral fissure, Finger syndactyly ORPHA:1527
Femoral-Facial Syndrome
Upslanted palpebral fissure, Abnormality of pelvic girdle bone morphology, Long philtrum, Preaxia... ORPHA:1988
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Meckel Syndrome, Type 10
Renal cyst, Sacral dimple, Micropenis, Hypospadias, Epicanthus, Ptosis, Postaxial polydactyly, Na... OMIM:614175
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney, Absent thumb, Absent radius OMIM:179280
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Absent eyelashes, Nail dysplasia, Absent eyebrow, Multicystic kidney d... OMIM:308205
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Burn-Mckeown Syndrome
Short palpebral fissure, 2-3 toe syndactyly, Renal hypoplasia, Lower eyelid coloboma, Blepharophi... OMIM:608572
Barber-Say Syndrome
Ablepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Ectropion, Telecanthus... ORPHA:1231
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Renal cyst, Short ribs, Lobulated tongue, Renal hypoplasia, Squared iliac bones,... OMIM:616300
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Abnormal glomerular visceral epith... ORPHA:567548
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Sparse eyebrow, Angular cheilitis, Sparse eyelashes OMIM:613102
Adams-Oliver Syndrome 3
Short palpebral fissure, 2-3 toe syndactyly, Aplasia cutis congenita, Short distal phalanx of fin... OMIM:614814
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Talipes equinovarus, Limb undergrowth, Occipital encephalocele OMIM:614209
Oculocerebrocutaneous Syndrome
Orbital cyst, Anophthalmia, Congenital hip dislocation, Eyelid coloboma, Microphthalmia, Orbital ... OMIM:164180
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Vent... OMIM:614326
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Abnormal palate morphology, Short 5th metacarpal, Arrhyth... ORPHA:1350
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle ORPHA:158681
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Blepharophimosis, Oral synechia, Cleft palate ORPHA:2016
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb, Talipes equinovarus OMIM:613681
Simpson-Golabi-Behmel Syndrome, Type 2
Small nail, Clinodactyly, Single transverse palmar crease, Micropenis, Broad palm, Tapered finger... OMIM:300209
Orofaciodigital Syndrome Xi
Downslanted palpebral fissures, Cleft palate, Postaxial polydactyly OMIM:612913
Holzgreve Syndrome
Renal hypoplasia, Hand polydactyly, Cleft upper lip, Cleft palate OMIM:236110
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Coxa valga, M... OMIM:609052
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Upslanted palpebral fissure, High anterior hairline, Almond-shaped pal... OMIM:619504
Rhyns Syndrome
Abnormality of long bone morphology, Ptosis, Multicystic kidney dysplasia, Abnormal acetabulum mo... ORPHA:140976
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Neonatal death, Mesomelia, Syndactyly OMIM:228940
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Small nail, Coxa valga, Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia OMIM:613618
Coloboma Of Macula-Brachydactyly Type B Syndrome
Renal agenesis, Absent fingernail, Type B brachydactyly, Short distal phalanx of finger, Fingerna... ORPHA:1471
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Dental malocclusion, Horseshoe kidney, Atrial septal defect, Micropeni... ORPHA:363444
Otopalatodigital Syndrome Type 2
Carpal synostosis, Hydronephrosis, Short thumb, Abnormal rib morphology, Narrow chest, Cleft pala... ORPHA:90652
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Micropenis, Polydactyly OMIM:615983
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Median cleft lip, Short palpebral fissure OMIM:619452
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Postaxial foot polydactyly, Non-midline cleft lip, Enamel h... ORPHA:2919
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Ventricular septal defect, Micrognathia ORPHA:1918
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Ureteral atresia, Hydronephrosis, Nail dysplasia, Highly arched eyebro... OMIM:614527
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal mitral valve morphology, Micrognathia, Mesomelia, Abnormal shoulder morph... ORPHA:1277
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Brachydactyly, Type A1, C
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephroblastoma, Renal insufficiency, Focal segme... ORPHA:347
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Clinodactyly, Radial deviation of finger, Sparse lower eyelashes, Hall... OMIM:154400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High palate, Bru... OMIM:612350
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydactyly, Postaxi... ORPHA:380
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Sandal gap, Overlapping fingers, Tapered finger, Broad hallux, Metat... OMIM:618435
Trisomy X
Upslanted palpebral fissure, Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Renal ... ORPHA:3375
Cat-Eye Syndrome
Preauricular pit, Hydronephrosis, Anal atresia, Abnormal rib morphology, Downslanted palpebral fi... ORPHA:195
Mandibulofacial Dysostosis With Mental Retardation
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248400
Arthrogryposis, Distal, Type 7
Hammertoe, Metatarsus adductus, Ptosis, Cutaneous syndactyly of toes, Talipes equinovarus, Hip di... OMIM:158300
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Localized ski... OMIM:300244
Trisomy 4P
Abnormal palate morphology, Camptodactyly of finger, Radial club hand, Thick eyebrow, Blepharophi... ORPHA:1738
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis, Abnormal hand morphology OMIM:122850
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Short long bone, Abnormality of the epiphysis of the femoral head, Sho... ORPHA:93316
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, Sandal gap, Clinodactyly of the 5th finger, 11 pairs of ribs, Pulmonic sten... OMIM:617877
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Supernumerary ribs, Coxa valga, Skin dimple, Ptosis, Abnormal numb... ORPHA:2958
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Papule, Skin vesicle, Gingivitis, Abnormality of the dentition, Skin u... ORPHA:2314
Dyskeratosis Congenita
Blepharitis, Telangiectasia of the skin, Esophageal stenosis, Skin ulcer, Coarse metaphyseal trab... ORPHA:1775
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Long philtrum, Camptodactyly of finger, Blepharophimosis, Telecanthus, Sparse ... ORPHA:178303
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Nephrocalcinosis, Short long bone, Lateral clavicle hook, Thoraci... OMIM:615633
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Short 4th metacarpal, Hypodontia, Tapered finger, Aplasia/Hypoplasia of the distal ph... ORPHA:3201
Porphyria Variegata
Ileus, Proximal muscle weakness in upper limbs, Chronic kidney disease, Increased urinary porphob... ORPHA:79473
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Trismus, Micropenis, Micrognathia, Abnormal heart morphology, Microphallus OMIM:218450
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:618348
Sandestig-Stefanova Syndrome
Clinodactyly, Rocker bottom foot, Muscular ventricular septal defect, Retrognathia, Perimembranou... OMIM:618804
Microphthalmia, Syndromic 8
Short palpebral fissure, Cleft upper lip, Widely-spaced maxillary central incisors, Premature ski... OMIM:601349
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Cousin Syndrome
Clinodactyly of the 5th finger, Hydronephrosis, Hypoplastic iliac wing, Hypoplastic pubic bone, 2... OMIM:260660
Jackson-Weiss Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Abnormal palate morphology, 2-... ORPHA:1540
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Nevus flammeus, Comedo ORPHA:64754
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Pes planus, Micropenis OMIM:244200
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of the nail, Abnormality of pelvic girdle bone morpholog... OMIM:157900
Brachydactyly Type A4
Shortening of all middle phalanges of the toes, Symphalangism affecting the phalanges of the hand... ORPHA:93394
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Orofaciodigital Syndrome Iv
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Foot polydactyly, Brachydacty... OMIM:258860
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Ectropion of lower eyelids, Hypoplasia of the radius, ... ORPHA:246
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Apla... OMIM:609432
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Hypoplasia of the ulna, Renal hypoplasia, Hypoplasia of the radius, Downslanted p... OMIM:212780
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Patent ductus arteriosus, Proximal tubulopathy, Hyperechogenic kidneys... OMIM:614576
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of ... OMIM:602196
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Short middle phalanx of finger, Ventricular septal de... ORPHA:391646
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Ivic Syndrome
Small thenar eminence, Carpal synostosis, Short thumb, Short 1st metacarpal, Hypoplasia of deltoi... OMIM:147750
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Torus palatinus, Diaphyseal thickening, Abnormal rib morphology ORPHA:2790
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Bencze Syndrome
Submucous cleft hard palate, Upslanted palpebral fissure, Telecanthus, Open bite ORPHA:1241
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Upslanted palpebral fissure, Clinodactyly, Patent ductus arteriosus, H... OMIM:616737
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
10Q22.3Q23.3 Microduplication Syndrome
Upslanted palpebral fissure, Abnormality of the philtrum, Abnormal clavicle morphology, Abnormal ... ORPHA:276422
Oculocerebrocutaneous Syndrome
Finger syndactyly, Hypopigmented skin patches, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Patent ductus arteriosus, Long eyelashes, Hydronephrosis, Horizontal e... OMIM:609757
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Biemond Syndrome Type 2
Preaxial polydactyly, Hypospadias ORPHA:141333
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Single transverse palmar crease, Long eyelashes, Open mouth, Thick eyeb... OMIM:617412
Cystathioninuria
Cystathioninuria, Talipes equinovarus, Nephrolithiasis ORPHA:212
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Ptosis, Highly... ORPHA:2712
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple small medullary r... OMIM:216360
Chromosome 15Q26-Qter Deletion Syndrome
Brachydactyly, Micropenis, Short middle phalanx of finger, Blepharophimosis, Talipes equinovarus,... OMIM:612626
Schilbach-Rott Syndrome
Narrow mouth, Upslanted palpebral fissure, Clinodactyly, Bifid uvula, 3-4 finger cutaneous syndac... OMIM:164220
Neu-Laxova Syndrome 1
Clinodactyly, Pterygium, Ablepharon, Micromelia, Spina bifida, Renal agenesis, Patent ductus arte... OMIM:256520
Mmep Syndrome
Split foot, Triphalangeal thumb, Ventricular septal defect, Mandibular prognathia ORPHA:3434
Pierpont Syndrome
Unilateral narrow palpebral fissure, Short palm, Micropenis, Blepharophimosis, Broad palm, Microp... OMIM:602342
Bardet-Biedl Syndrome 7
Narrow mouth, Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Eng-Strom Syndrome
Brachydactyly, Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morpho... ORPHA:1937
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse eyebrow, Syndactyly, Sparse eyelashes, Camptodactyly, Split hand, Joint contracture of the... OMIM:225280
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Talipes equinovarus, Hirsutism, Congenital bilateral hip dislocation ORPHA:85288
Intellectual Developmental Disorder, Autosomal Dominant 23
Upslanted palpebral fissure, Sacral dimple, Long philtrum, Drooling, Postaxial polydactyly, Sanda... OMIM:615761
Cree Mental Retardation Syndrome
Cleft soft palate, Rocker bottom foot, Ptosis, Pectus excavatum, Downslanted palpebral fissures, ... OMIM:606851
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Upslanted palpebral fissure, Toe syndactyly, Abnormal palate morphology, Metatarsus valgus, Abnor... ORPHA:3082
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Mohr Syndrome
Clinodactyly of the 5th finger, Agenesis of central incisor, Syndactyly, Bilateral postaxial poly... OMIM:252100
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Stage 5 chronic kidney ... OMIM:617575
Thomas Syndrome
Downslanted palpebral fissures, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, High palate, Nephronophthisis, Bifid uvula, Renal cyst, Short femoral ne... OMIM:266920
Long Qt Syndrome 16
Perimembranous ventricular septal defect OMIM:618782
Iga Pemphigus
Oral mucosal blisters, Annular cutaneous lesion, Ulcerative colitis, Skin plaque, Skin vesicle, S... ORPHA:555905
Toriello-Lacassie-Droste Syndrome
Brachydactyly, Short palpebral fissure, Abnormality of the ureter, Short palm, Abnormal penis mor... ORPHA:3339
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis OMIM:601076
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis, Velopharyngeal insufficiency OMIM:617732
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Rosselli-Gulienetti Syndrome
Cleft upper lip, Hypohidrosis, Hypodontia, Microdontia, Abnormality of the philtrum, Sparse eyebr... OMIM:225000
Aplasia Cutis Congenita
Congenital localized absence of skin, Toe syndactyly, Finger syndactyly, Aplasia cutis congenita ... ORPHA:1114
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, Bifid uvula, Tarsal synostosis, 2-3 toe syndactyly, Pos... OMIM:263540
Ventriculomegaly And Arthrogryposis
Talipes equinovarus, Hand clenching, Ulnar deviation of the wrist, Micrognathia OMIM:619501
Acrocapitofemoral Dysplasia
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Metatropic Dysplasia
Camptodactyly of finger, Clinodactyly of the 5th finger, Abnormal rib morphology, Micromelia, Abn... ORPHA:2635
Renpenning Syndrome
Narrow mouth, Short philtrum, Upslanted palpebral fissure, Abnormal thumb morphology, Thin eyebro... ORPHA:3242
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Short ribs, Thoracic dysplasia, Lateral clavicle hook, Prea... OMIM:615503
Acrorenal Syndrome
Abnormality of the ulna, Micrognathia, Abnormality of tibia morphology, Renal insufficiency, Spli... ORPHA:971
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly OMIM:610140
Leukocyte Adhesion Deficiency Type Ii
Long eyelashes, Broad palm, Deep philtrum, Palpebral edema, Broad eyebrow, Skin vesicle, Overlapp... ORPHA:99843
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Aganglionic megacolon, Preaxial foot polydactyly OMIM:235750
Cleft Soft Palate
Cleft soft palate OMIM:119570
Uvula, Bifid
Bifid uvula OMIM:192100
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Broad proximal phalanges of the hand, Abnormal hair morphology, Optic ne... OMIM:607597
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal palate morphology, Abnormal rib morphology, Abnormality of pelvic gir... ORPHA:1506
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney, Abnormality of limb bone morphology, Low po... OMIM:118100
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Renal cyst OMIM:614870
Buratti-Harel Syndrome
High palate, Bifid uvula, Velopharyngeal insufficiency, Clinodactyly of the 5th finger, Broad hal... OMIM:619314
Polysyndactyly With Cardiac Malformation
Small nail, Renal cyst, Stillbirth, Duplication of phalanx of hallux, Preaxial hand polydactyly, ... OMIM:263630
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Lateral clavicle hook... ORPHA:1801
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Broad uvula, Upper lip pit, Elbow dislocation, Metatarsus a... ORPHA:2804
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hydronephrosis, Eyelid coloboma, Microphthalmia, Limbal dermoid, Pelvic k... OMIM:613001
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Upslanted palpebral fissure, Long philtrum, Thick eyebrow, Clinodactyly of the 5th finger, Highly... OMIM:614701
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Microphthalmia OMIM:616570
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Popliteal pterygium, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Epicanthus, Talipes equinovarus, Hirsutism, Short foot, Hip dislocation OMIM:300434
1Q21.1 Microduplication Syndrome
Talipes equinovarus, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Clinodactyly of the 5th finger, Tapered finger, Hydroureter, Talipes equinovarus... OMIM:617219
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Grant Syndrome
Bowing of the long bones, Abnormal palate morphology, Abnormality of pelvic girdle bone morpholog... ORPHA:2097
Joubert Syndrome 22
Postaxial foot polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Microphthalmia, Postaxial hand ... OMIM:615665
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Short ribs, Lateral... OMIM:617925
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Abnormality of the nail, Patchy alopecia, Upper limb asymmetry, Co... ORPHA:35173
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:618939
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Rhizomelic Syndrome
Rhizomelia, Bifid distal phalanx of the thumb, Pulmonic stenosis, Micrognathia, Complete duplicat... OMIM:268250
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Micropenis, Abnormal foot morphology, Supernumerary nipple, Congenital hi... OMIM:263750
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Talipes equinovarus, Hip dysplasia, Hypoplastic toenails ORPHA:238578
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Nephropathy, Stage 5 chronic kid... OMIM:194080
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Joubert Syndrome 20
Renal cyst, Syndactyly, Postaxial polydactyly OMIM:614970
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Short thorax, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Tele... OMIM:617102
Joubert Syndrome 14
Renal cyst, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures, Microphthalmia, Postax... OMIM:614424
Arthrogryposis, Distal, Type 1B
Contractures involving the joints of the feet, Rocker bottom foot, Camptodactyly, Talipes equinov... OMIM:614335
Joubert Syndrome 10
Deep philtrum, Downslanted palpebral fissures, Postaxial polydactyly, Epicanthus, Thick vermilion... OMIM:300804
Orofaciodigital Syndrome Type 6
Tongue nodules, High palate, Brachydactyly, Foot polydactyly, Mesoaxial polydactyly, Central Y-sh... ORPHA:2754
Microphthalmia With Limb Anomalies
Short palpebral fissure, Toe syndactyly, Anophthalmia, Single transverse palmar crease, Hand olig... OMIM:206920
Limb-Mammary Syndrome
Submucous cleft soft palate, Toe syndactyly, Bifid uvula, Blepharitis, Absent lacrimal punctum, H... ORPHA:69085
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb,... ORPHA:3098
White Forelock With Malformations
Abnormal palate morphology, Finger syndactyly, Clinodactyly of the 5th finger, Deep philtrum, Abn... ORPHA:2475
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Tapered distal phalanges of finger, Sandal gap, Clinodactyl... OMIM:609638
Mungan Syndrome
Perimembranous ventricular septal defect, Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis OMIM:611376
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Sparse eyebrow, Lower eyelid coloboma, Sparse eyelashes, Alopecia OMIM:616367
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormality of epiphysis morphology, Enamel hypoplasia, Abnormal rib morphology, D... ORPHA:2643
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tapered finger, Short phalanx of finger, Long fingers, Proximal placement o... OMIM:613458
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Proteinuria, Bilateral renal agenesis, Ureteral agenes... ORPHA:411709
Frontofacionasal Dysplasia
Absent inner eyelashes, Blepharophimosis, Aplasia/Hypoplasia of the eyebrow, Ptosis, Subcutaneous... ORPHA:1791
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Limbal dermoid, Skin tags, Preauricular skin tag ORPHA:398156
Suleiman-El-Hattab Syndrome
Clinodactyly, Long philtrum, Thick eyebrow, Hydronephrosis, Highly arched eyebrow, Palpebral thic... OMIM:618950
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Postaxial foot polydactyly, Short sternum, Microdontia, Supernumerar... OMIM:258850
Lambert Syndrome
Talipes equinovarus, Hypospadias OMIM:245550
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Distal Monosomy 17Q
Narrow mouth, Upslanted palpebral fissure, Abnormal thumb morphology, Abnormal hip bone morpholog... ORPHA:1597
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Desbuquois Dysplasia 2
Genu varum, Bifid uvula, Long philtrum, Metaphyseal widening, Epicanthus, Narrow chest, Cleft pal... OMIM:615777
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Sacral dimple, Finger syndactyly, Bilateral single transvers... ORPHA:2633
6P22 Microdeletion Syndrome
Clinodactyly, Finger syndactyly, Patent ductus arteriosus, Hydronephrosis, Epicanthus, Redundant ... ORPHA:251046
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Moderate Multiminicore Disease With Hand Involvement
Hyporeflexia of upper limbs, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Re... ORPHA:178145
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short ribs, Micropenis, Aplastic clavicle, Preaxial polydactyly, Micromelia, Postaxial polydactyl... OMIM:616546
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Hypospadias OMIM:619428
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Pes cavus, Micropenis, Sparse pubic hair OMIM:308750
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Joubert Syndrome 35
Single transverse palmar crease, Hydronephrosis, Ptosis, Highly arched eyebrow, Multicystic kidne... OMIM:618161
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Unilateral renal agenesis, Broad middle phalanx of finger, Short distal phalanx of the thumb, Lac... ORPHA:221139
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Median cleft palate, Patellar hypoplasia, Popliteal pterygium, Abs... OMIM:119800
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Joubert Syndrome 16
Nephronophthisis, Renal cyst, Encephalocele, Polydactyly OMIM:614465
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Upper limb asymmetry, Clinodactyly of the 5th finger, Polydactyly, Nevus flammeus, D... ORPHA:231140
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Telecanthus, Aniridia ORPHA:1064
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Broad uvula, Joint contracture of the hand, Agenesis of cen... OMIM:311450
Verheij Syndrome
Renal agenesis, Clinodactyly, Renal cyst, Renal hypoplasia, Short 5th finger, Hip dislocation OMIM:615583
Orofaciodigital Syndrome Xvii
Clinodactyly, Central Y-shaped metacarpal, Micropenis, Renal hypoplasia, Partial duplication of t... OMIM:617926
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Bilateral single transverse palmar cre... ORPHA:3033
Blepharophimosis-Impaired Intellectual Development Syndrome
Pes planus, Thick eyebrow, Clinodactyly of the 5th finger, Tapered finger, Ptosis, Highly arched ... OMIM:619293
Oligomeganephronia
Unilateral renal agenesis, Branchial cyst, Abnormality of medullary pyramid morphology, Decreased... ORPHA:2260
Fanconi Anemia, Complementation Group O
Absent thumb, Renal cyst, Hydronephrosis, Hypoplasia of the radius, Short thumb, Stage 5 chronic ... OMIM:613390
Mosaic Trisomy 1
Renal cortical cysts, Absent distal interphalangeal creases, Hand clenching, 2-3 finger syndactyl... ORPHA:1692
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Duplication of phalanx of hand, Clinodactyly of the 5th finger, Abnormality of the hand, Microgna... ORPHA:508498
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:619603
Cenani-Lenz Syndrome
Short thumb, Abnormal rib morphology, High, narrow palate, Ptosis, Micromelia, Hip dislocation, S... ORPHA:3258
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Schizophrenia 1
Renal agenesis, Ectopic kidney, Short proximal phalanx of the 4th toe, Partially duplicated kidne... OMIM:181510
Mesomelia-Synostoses Syndrome
Long philtrum, Clinodactyly of the 5th finger, Hydronephrosis, High, narrow palate, Ptosis, Micro... ORPHA:2496
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Patent ductus arteriosus, Hypoplasia of penis,... ORPHA:2547
Sweet Syndrome
Dilated cardiomyopathy, Small vessel vasculitis, Inflammation of the large intestine, Erythematou... ORPHA:3243
Meier-Gorlin Syndrome 7
Narrow mouth, High palate, Bowing of the legs, Clubbing, 2-3 toe syndactyly, Anal stenosis, Ureth... OMIM:617063
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent thumb, Cystic renal dysplasia, Horseshoe kidney, Hand oligodact... OMIM:156810
Arthrogryposis, Distal, Type 2B3
Overlapping fingers, Ptosis, Downslanted palpebral fissures, Talipes equinovarus, Hallux valgus, ... OMIM:618436
Richieri-Costa/Guion-Almeida Syndrome
Palmoplantar cutis laxa, Ptosis, Eyelid coloboma, Downslanted palpebral fissures, Abnormal digit ... OMIM:268850
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, Upslanted palpebral fissure, Cleft upper lip, 2-3 toe syndactyly, Cutaneous syn... OMIM:600987
Emanuel Syndrome
Unilateral renal agenesis, Upslanted palpebral fissure, Hooded eyelid, Patent ductus arteriosus, ... ORPHA:96170
Duane-Radial Ray Syndrome
Small thenar eminence, Hydronephrosis, Sandal gap, Short thumb, Epicanthus, Aplasia of metacarpal... OMIM:607323
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Upslanted palpebral fissure, Rhizomelia, Hydronephrosis, Hypo... OMIM:611209
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Preaxial foot polydactyly OMIM:614120
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Pes cavus, Distal low... OMIM:619216
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Toe syndactyly, Finger syndactyly, Short palm, Lacrimal duct stenosis, Sparse eyebrow, Ptosis, Do... ORPHA:73246
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Clinodactyly, Coxa valga, Micropenis, Hydronephrosis, Tapered finger, Hypospadias, Absent frontal... OMIM:301040
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Bifid uvula, Long philtrum, Drooling, Abnormality of the dentition, Clinodactyly of ... ORPHA:576283
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Ptosis, Hypoplastic iliac wing, Short toe, Epicanth... OMIM:609945
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Unilateral cleft palate, Unilateral cleft lip, Pectus excavatum, Submucous cl... OMIM:619122
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Say Syndrome
Cystic renal dysplasia, Tapered finger, Ulnar deviation of the 3rd finger, Short distal phalanx o... OMIM:181180
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Clinodactyly, Talipes, Abnormality of the hand, Brachydactyly, Bowing ... ORPHA:95699
Teebi-Shaltout Syndrome
Ureteral stenosis, Horseshoe kidney, Single transverse palmar crease, Rocker bottom foot, Hydrone... OMIM:272950
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Brachydactyly, Neonatal epiphyseal stippling, Short palm, Cone-shaped ... OMIM:101800
Prieto Syndrome
Clinodactyly, Coxa valga, Radial deviation of finger, Ptosis, Patellar dislocation, Epicanthus, T... OMIM:309610
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Acetabular erosions, Bifid uvula OMIM:601492
Pelvis-Shoulder Dysplasia
Short palpebral fissure, Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexi... ORPHA:2839
Myhre Syndrome
Bifid uvula, Abnormal penis morphology, Abnormal rib morphology, Ptosis, Hypertension, Gingival c... ORPHA:2588
Lacrimoauriculodentodigital Syndrome
Small thenar eminence, Hypoplasia of the lacrimal punctum, Bilateral triphalangeal thumbs, Clinod... OMIM:149730
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Prox... ORPHA:168549
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... ORPHA:1836
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Hypopigmented skin patches, Ptosis, Proximal placem... ORPHA:1825
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Kbg Syndrome
Clinodactyly, Thoracic kyphosis, Cervical ribs, Long philtrum, Single transverse palmar crease, O... OMIM:148050
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Cervical ribs, Renal hypoplasia, Anal atresia, Urethral obstruction, Preaxial hand polydactyly, S... OMIM:601389
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Elbow flexion contracture, Blepharophimosis, Ptosis, Knee flexion contra... OMIM:277720
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Abnormality of pelvic girdle bone morphology, Horseshoe k... OMIM:600057
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Mehmo Syndrome
Micropenis, Talipes equinovarus, Tapered finger, Hypoplasia of penis ORPHA:85282
Joubert Syndrome 7
Renal cyst, Ptosis, Postaxial hand polydactyly, Postaxial polydactyly, Nephronophthisis, Encephal... OMIM:611560
Wt Limb-Blood Syndrome
Absent thumb, Clinodactyly of the 5th finger, Short phalanx of finger, Short thumb, Joint contrac... OMIM:194350
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
Hypertelorism And Tetralogy Of Fallot
Patent ductus arteriosus, Epicanthus, Spina bifida occulta, Narrow palpebral fissure, Blepharophi... OMIM:239711
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Pes cavus, Urinary bladder sphincter dysfunction, Talipes equinova... ORPHA:3115
Hypophosphatasia
Bowing of the long bones, Skin dimple over apex of long bone angulation, Abnormality of the denti... ORPHA:436
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia OMIM:615397
Meckel Syndrome, Type 2
Bowing of the long bones, Renal cyst, Anencephaly, Polydactyly, Microphthalmia, Postaxial hand po... OMIM:603194
Fibrochondrogenesis
Narrow mouth, Brachydactyly, Camptodactyly of finger, Short ribs, Hypoplastic scapulae, Abnormal ... ORPHA:2021
Faciothoracogenital Syndrome
Small nail, Microphthalmia, Glandular hypospadias OMIM:227320
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Short toe OMIM:615297
Acro-Renal-Ocular Syndrome
Abnormal thumb morphology, Talipes, Renal malrotation, Radial club hand, Sandal gap, Short thumb,... ORPHA:959
Sclerosteosis
Finger syndactyly, Diaphyseal thickening, Ptosis, Curved distal phalanges of the hand, 2-3 finger... ORPHA:3152
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Radioulnar synostosis ORPHA:3270
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Missing ribs, Clinodactyly of the 5th finger, Abnormality of th... ORPHA:2759
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Clinodactyly, Ectopic kidney, Micropenis, Renal hypoplasia, Pes cavus,... OMIM:616541
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Euryblepharon, Ectropion of lower eyelids, Distichiasis, Abnormal eyelid morph... ORPHA:1997
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Pes cavus, Micropenis, Sparse pubic hair OMIM:308700
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Short palpebral fissure, Single transverse palmar crease, Short 5th metacarpal, Sh... ORPHA:370010
Branchio-Oculo-Facial Syndrome
Preauricular pit, High palate, Upslanted palpebral fissure, Atypical scarring of skin, Non-midlin... ORPHA:1297
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Abnormality of epiphysis morphology, Rhizomelia, Abnorm... ORPHA:93267
Bresek Syndrome
Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Renal dysplasia, Postaxial hand polydac... ORPHA:85284
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Abnormal penis morphology, Abnormal toenail morphology, Ptosis,... ORPHA:2211
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Finger syndactyly, Abnormal rib morphology, Micromelia, Split hand, Abnormality of... ORPHA:2145
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Renal hypoplasia, Optic nerve hypoplasia, Hyperechogenic kidneys OMIM:617914
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Downslanted palpebral fissures, Skin tags, Median cleft lip OMIM:155145
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Upslanted palpebral fissure, Talipes equinovarus OMIM:616486
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Preaxial foot polydactyly, Broad hallux, Downslanted palpebral fissur... OMIM:175700
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Pes planus, Excessive skin wrinkling on dorsum of hands and fingers, Genu recurvatum, Narrow palp... OMIM:608763
Intellectual Developmental Disorder, Autosomal Recessive 61
Long eyelashes, Thick eyebrow, Tapered finger, Highly arched eyebrow, Pes cavus, Synophrys, Talip... OMIM:617773
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Abnormal distal phalanx morphology of finger, Triphalangeal thumb, Pto... ORPHA:2673
Pai Syndrome
Bifid uvula, Telecanthus, Downslanted palpebral fissures, Subcutaneous nodule, Abnormal oral fren... ORPHA:1993
Autosomal Dominant Spondylocostal Dysostosis
Upslanted palpebral fissure, Missing ribs, Short thorax, Posterior rib fusion, Abnormal rib morph... ORPHA:1797
Ehlers-Danlos Syndrome, Classic Type, 2
Epicanthus, Talipes equinovarus, Congenital hip dislocation OMIM:130010
Ellis-Van Creveld Syndrome
Cone-shaped epiphyses of phalanges 2 to 5, Horizontal ribs, Short long bone, Cleft upper lip, Del... OMIM:225500
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Thin ribs, Hydronephrosis, Cleft palate, Vesicoureteral reflux OMIM:618265
Fibular Hemimelia