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Gene: Fras1 MGI:2385368

Registered for phenotyping at IMPC

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

Gene Summary

Name:

Fraser extracellular matrix complex subunit 1

Synonyms:

E130113P14Rik, bl

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 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.

Human diseases associated with Fras1 (2 diseases)
Human diseases predicted to be associated with Fras1 (2122 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Fraser Syndrome 1		Encephalocele, Aplasia/Hypoplasia of the thumb, Absent eyebrow, Anophthalmia, Hypospadias, Renal ...	OMIM:219000
Fraser Syndrome		Encephalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias,...	ORPHA:2052

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

Disease	Matching phenotypes	Source
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Orofaciodigital Syndrome Xviii	Sandal gap, Urinary incontinence, Postaxial polydactyly, Accessory oral frenulum, Diastema, Cleft...	OMIM:617927
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Abnormality of the philtrum, Abnormality of the dentition, Synophr...	ORPHA:3268
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Erythema Elevatum Diutinum	Skin vesicle, Skin nodule, Vasculitis in the skin	ORPHA:90000
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Atypical scarring of...	ORPHA:294975
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Abnormality of the philt...	ORPHA:2935
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Skin erosion, Localized skin lesion, Erythematous papule, G...	ORPHA:79410
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Cutaneous syn...	OMIM:617666
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Epicanthus, Anophthalmia, Rhizomelia, Hypospadias, 2-3 toe syndactyly, Long eyelashes...	OMIM:615877
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Darier Disease	Macule, Acrokeratosis, Hypermelanotic macule, Plantar pits, Skin vesicle	ORPHA:218
Orbital Margin, Hypoplasia Of	Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly	OMIM:165600
Pemphigoid Gestationis	Skin vesicle	ORPHA:63275
Burn-Mckeown Syndrome	Short stature, Unilateral renal agenesis, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Rena...	OMIM:608572
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, H...	OMIM:618142
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Familial Benign Chronic Pemphigus	Skin vesicle, Skin erosion, Erythema	ORPHA:2841
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Dowling-Degos Disease	Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Penile freckling, Palmar pits, Digi...	ORPHA:79145
Bartsocas-Papas Syndrome 1	Ectopic kidney, Cicatricial lagophthalmos, Ankyloblepharon, Hypoplastic iliac wing, Micropenis, P...	OMIM:263650
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Ankyloblepharon	OMIM:123570
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Short long bone, Bilateral...	OMIM:618845
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplantar erythema, Ery...	ORPHA:64745
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Preaxial hand polydactyly, Synophrys, Orofacial cleft, Large hands	ORPHA:85287
Orofaciodigital Syndrome Type 10	Telecanthus, Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Duplicatio...	ORPHA:2756
Bardet-Biedl Syndrome 10	Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Hydronephrosis, Parti...	ORPHA:2669
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Short metacarpal, Toe syndactyly, Hypoplasia of eyelid, Redundant skin, Ablepharo...	OMIM:200110
Wells Syndrome	Skin vesicle, Vasculitis	ORPHA:901
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Short toe, Cutaneous syndactyly, Ureteral agenesi...	OMIM:617667
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Macule, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Ablepharon, Camptodactyly of finger, Redunda...	ORPHA:920
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Ankyloblepharon, Cleft upper lip	OMIM:106250
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,...	OMIM:606242
Sprengel Deformity	Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should...	ORPHA:3181
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Thick eyebrow, Preaxial hand polydactyly, Synophrys, Radial club hand, Short me...	ORPHA:1278
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Cleft hard palate, Delayed epiphyseal ossificati...	ORPHA:166016
Inverted Duplicated Chromosome 15 Syndrome	Epicanthus, Unilateral renal agenesis, Synophrys, 2-3 toe syndactyly, Talipes equinovarus, Clinod...	ORPHA:3306
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Epicanthus, Short stature, Clinodactyly of the 5th finger, Downslanted palpebr...	ORPHA:238446
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea...	ORPHA:2091
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Unilateral renal agenesis	OMIM:235740
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid distal phalanx of the thumb, Nephrotic syndrome, Partial duplication of the distal phalanx ...	OMIM:256200
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Cleft palate, Non-midline cleft lip, Ankyloblepharon	ORPHA:1074
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Unilateral renal agenesis, Non-midline c...	ORPHA:245
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Epicanthus, Radial bowing, Intestinal malrotation, Postaxial polydactyl...	OMIM:617866
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Talipes, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease,...	OMIM:617661
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Lichen Planus Pemphigoides	Skin vesicle, Conjunctivitis, Blepharitis	ORPHA:254478
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Bilateral single transverse palmar cre...	ORPHA:1703
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Short stature, Camptodactyly of finger, Renal agenesis, Broad thumb, Short ...	ORPHA:1471
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren...	OMIM:615993
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Short stature, Unilateral renal agenesis, Postnatal growth retardation,...	OMIM:619504
Orofaciodigital Syndrome Viii	Syndactyly, Telecanthus, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia, M...	OMIM:300484
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Weaver Syndrome	Deep-set nails, Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Redu...	ORPHA:3447
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Redundant neck skin, Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe synda...	OMIM:236500
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Lacrimal duct apl...	DECIPHER:46
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Upslanted palpebral fissure, Unilateral renal agenesis	ORPHA:2512
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Aplasia/Hypoplasia of the skin, Dermal atrophy, Skin vesicle, Papule, Ptosis	ORPHA:257
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Thoracic dysplasia, Nar...	OMIM:614091
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Cleft lip, Synophrys, Cleft palate, Upslanted palpebral fissure, Large ...	OMIM:300263
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Hennekam-Beemer Syndrome	Macule, Telangiectasia of the skin, Camptodactyly of finger, Subcutaneous nodule, Erythema, Thick...	ORPHA:2135
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate	OMIM:172880
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Absent eyebrow, Anophthalmia, Hypospadias, Renal ...	OMIM:219000
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Epicanthus, Short stature, Proximal placement of thumb, Abnormal thumb morphol...	ORPHA:1825
3Mc Syndrome 3	Sacral dimple, Short stature, Highly arched eyebrow, Cleft upper lip, Epicanthus inversus, Preaxi...	OMIM:248340
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short thumb, Hyp...	ORPHA:2319
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S...	OMIM:616300
Jeune Syndrome	Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol...	ORPHA:474
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly	OMIM:615982
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal hair whorl, Hip dysplasi...	OMIM:616362
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Preauricular pit, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Cam...	OMIM:619951
Oculotrichoanal Syndrome	Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microp...	ORPHA:2717
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow, Split hand, 2-3 f...	OMIM:225280
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Talipes, Alopecia totalis, Aplasia/Hypoplasia of the distal ph...	ORPHA:1234
Pemphigus Foliaceus	Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Annular cutaneous lesion, Scaling sk...	ORPHA:79481
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Acrofrontofacionasal Dysostosis	Ptosis, Hypospadias, Camptodactyly of finger, Micromelia, Hypopigmented skin patches, Eyelid colo...	ORPHA:1784
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Broad hallux, Sandal gap, Ventricular septal defect, Secundum atrial septal defect, 2-3 toe synda...	OMIM:600987
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Short stature, Unilateral renal agenesis, Absent ...	OMIM:614900
Terminal Osseous Dysplasia	Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Accessory oral frenulum, Ab...	OMIM:300244
Biemond Syndrome Type 2	Hypospadias, Preaxial polydactyly, Short stature, Delayed puberty	ORPHA:141333
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Dermatitis Herpetiformis	Macule, Skin vesicle, Erythema	ORPHA:1656
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Long penis, Rib fusion, Abnormal rib morphology, Coxa vara...	ORPHA:1988
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Split foot, Malar flattening	OMIM:183700
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Preauricular pit, Unilateral renal agenesis, Cleft palate, Short distal phalanx of finger	OMIM:601355
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Epicanthus, Overlapping toe, Unilateral renal agenesis, High, narrow pa...	OMIM:618494
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space...	OMIM:616737
Braddock Syndrome	Epicanthus, Abnormal hair pattern, Unilateral renal agenesis, Preaxial hand polydactyly, Blepharo...	ORPHA:52047
Holzgreve Syndrome	Hand polydactyly, Renal hypoplasia, Cleft palate, Cleft upper lip	OMIM:236110
Pyoderma Gangrenosum	Skin vesicle, Atrophic scars, Papule, Skin ulcer	ORPHA:48104
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Teebi Hypertelorism Syndrome 2	Syndactyly, Hypospadias, Upper eyelid coloboma, Clinodactyly of the 5th finger, Thick eyebrow, Pt...	OMIM:619736
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Telecanthus, Preaxial hand polydactyly, Hand oligodactyly, Cleft pal...	OMIM:165590
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Telecanthus, Unilateral renal agenesis	OMIM:206750
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5...	ORPHA:567548
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Finger clinodactyly, Lobulated tongue, High palate, Syndactyly, Mesoaxial p...	ORPHA:2754
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Nevus flammeus, Comedo	ORPHA:64754
Fraser Syndrome	Encephalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias,...	ORPHA:2052
Craniosynostosis, Philadelphia Type	Long palpebral fissure, Finger syndactyly	ORPHA:1527
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral synechia	ORPHA:2016
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Preaxial polydactyly, Ankyloblepharon, Tibial bowing...	OMIM:612651
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Downslanted palpebral fissures, Cleft palate	OMIM:612913
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Dyskeratosis Congenita	Hyperhidrosis, Periodontitis, Skin vesicle, Macule, Aplasia/Hypoplasia of the skin, Hypermelanoti...	ORPHA:1775
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Intellectual Developmental Disorder, X-Linked 90	Upslanted palpebral fissure, Enuresis, High palate, Narrow chest, Bifid uvula	OMIM:300850
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Synostosis of carpal b...	ORPHA:90652
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Postaxial polydactyly, Unilateral renal agenesis, Patent ductus arteriosus, Esophagea...	OMIM:614576
Trisomy X	Multicystic kidney dysplasia, Epicanthus, Renal hypoplasia/aplasia, Upslanted palpebral fissure, ...	ORPHA:3375
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Epicanthus, Overlapping toe, Hypospadias, Abnormality of the ...	ORPHA:363444
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Orbital cyst, Eyelid c...	OMIM:164180
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Radial-Renal Syndrome	Absent radius, Absent thumb, Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Cutis Laxa, Autosomal Dominant 3	Dermal translucency, Unilateral renal agenesis, Postnatal growth retardation, Hip dislocation, Cu...	OMIM:616603
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Epicanthus, Unilateral renal agenesis, Highly arched ...	OMIM:617190
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos, Ab...	OMIM:248450
Barber-Say Syndrome	Ablepharon, Telecanthus, Aplasia/Hypoplasia of the skin, Redundant skin, Sparse or absent eyelash...	ORPHA:1231
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl...	OMIM:614326
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Trisomy 4P	Smooth philtrum, Thick eyebrow, Short stature, Camptodactyly of finger, Hypospadias, Abnormality ...	ORPHA:1738
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Absent middle...	OMIM:308050
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Small nail, Acetabular dysplasia	OMIM:613618
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Lower eyelid coloboma, Upper eyelid coloboma, Femoral bowing, Flared lower limb metap...	OMIM:616462
Cat-Eye Syndrome	Preauricular pit, Abnormal rib morphology, Hip dysplasia, Preauricular skin tag, Downslanted palp...	ORPHA:195
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Telecanthus, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, ...	ORPHA:380
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Patent ductus arteriosus, Horsesho...	OMIM:613680
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S...	OMIM:192445
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Synophrys, Thick lower lip vermilion, Long hallux, ...	OMIM:618658
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect, Micrognathia	ORPHA:1918
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Skin ulcer, Cleft palate, Gingivitis, Sk...	ORPHA:2314
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Feingold Syndrome Type 2	Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac...	ORPHA:391646
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Hooded eyelid, Redundant neck skin, High palate, Mic...	ORPHA:96170
Gordon Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Cleft palate, High palate, Clinodactyl...	ORPHA:376
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Porphyria Variegata	Proximal muscle weakness in upper limbs, Tachycardia, Neurogenic bladder, Localized skin lesion, ...	ORPHA:79473
Myoectodermal Gonadal Dysgenesis Syndrome	Single transverse palmar crease, Cutaneous finger syndactyly, Scaling skin, Short palm, Short sta...	OMIM:618419
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo...	OMIM:602196
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Hamartoma of tongue, Postaxial polydactyly, Pectus excavatum, Accesso...	OMIM:258860
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Palmoplantar hyperkeratosis, Erythema migrans, Oral mucosal blisters	ORPHA:158681
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Skin vesicle, Sparse eyelashes, Angular cheilitis	OMIM:613102
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney	OMIM:615988
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s...	ORPHA:347
Arthrogryposis, Distal, Type 7	Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Talipes equinovaru...	OMIM:158300
Orofaciodigital Syndrome Xix	Epicanthus, Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brac...	OMIM:620107
Bencze Syndrome	Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite	ORPHA:1241
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Meckel Syndrome, Type 10	Epicanthus, Sacral dimple, Hypospadias, Ulnar deviation of the hand, Postaxial polydactyly, Posta...	OMIM:614175
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis	OMIM:244200
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Chromosome 17Q12 Deletion Syndrome	Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Highly arched eyebrow, Sparse eye...	OMIM:614527
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f...	OMIM:601349
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Mesomelia, Abnormal mitral valve morphology, Brachyda...	ORPHA:1277
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise...	OMIM:617575
Sandestig-Stefanova Syndrome	Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,...	OMIM:618804
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Polycysti...	OMIM:613885
Monosomy 5P	Finger syndactyly, Epicanthus, Short stature, Preauricular skin tag, Small hand, High palate, Int...	ORPHA:281
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis, Abnormally large globe	OMIM:618504
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Aplasia cutis congenita, Short dist...	OMIM:614814
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim...	OMIM:607323
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Epicanthus, Highly arched eyebrow, Dee...	ORPHA:261120
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Leukocyte Adhesion Deficiency Type Ii	Recurrent urinary tract infections, Severe periodontitis, Overlapping toe, Short stature, Protrud...	ORPHA:99843
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Preauricular pit, Congenital hip dislocation, Lacrimal duct s...	OMIM:113650
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Absent lower eyelashes, Foot oligodactyl...	OMIM:154400
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency, Ptosis	OMIM:617732
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, 2-3 toe syndactyly, Long palpebral fissure, Dry skin, Aplasia cutis congenita of ...	OMIM:600906
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
Scalp-Ear-Nipple Syndrome	Sparse hair, Clinodactyly of the 5th finger, Finger syndactyly, Renal hypoplasia, 2-3 toe syndact...	OMIM:181270
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Short palm, S...	OMIM:101800
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Ectropion of lower eyelids, H...	ORPHA:246
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Short long bo...	OMIM:615633
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Sk...	ORPHA:2631
Williams-Beuren Region Duplication Syndrome	Short stature, Unilateral renal agenesis, Diastema, Patent ductus arteriosus, High palate, Short ...	OMIM:609757
Brachydactyly Type A4	Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte...	ORPHA:93394
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Emanuel Syndrome	Preauricular pit, Recurrent urinary tract infections, Congenital hip dislocation, Dental crowding...	OMIM:609029
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Broad metatarsal, Short metatarsal, 2-3 toe syndactyly, Sym...	ORPHA:1540
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Epiphyseal stippling, Renal cyst	OMIM:614870
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Epicanthus, Clinodactyly, Split hand, Congenital fibrosis ...	OMIM:157900
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Downturned corners of mouth, ...	ORPHA:487796
Thomas Syndrome	Multicystic kidney dysplasia, Downslanted palpebral fissures, Renal hypoplasia/aplasia	ORPHA:3316
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Mohr Syndrome	Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ...	OMIM:252100
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Chromosome 9P Deletion Syndrome	Long toe, Hypospadias, Sandal gap, Hallux varus, Micrognathia, Tapered finger, Ventricular septal...	OMIM:158170
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Intestinal malrotation, Short stature, Highly arched eyebro...	OMIM:613684
Pierpont Syndrome	Telecanthus, Blepharophimosis, Short toe, High anterior hairline, Broad palm, Unilateral narrow p...	OMIM:602342
Renpenning Syndrome	Epicanthus, Hypospadias, Macrodontia, Pectus excavatum, High, narrow palate, Abnormal thumb morph...	ORPHA:3242
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly	OMIM:615984
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Absent distal phalanges,...	OMIM:120400
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Oculocerebrocutaneous Syndrome	Skin tags, Finger syndactyly, Ptosis, Congenital hip dislocation, Aplasia/Hypoplasia of the skin,...	ORPHA:1647
Iga Pemphigus	Oral mucosal blisters, Ulcerative colitis, Annular cutaneous lesion, Skin vesicle, Skin erosion, ...	ORPHA:555905
6P22 Microdeletion Syndrome	Finger syndactyly, Epicanthus, Redundant skin, Patent ductus arteriosus, Clinodactyly, Hydronephr...	ORPHA:251046
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ...	ORPHA:3098
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig...	OMIM:117650
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Short stature, Highly arched eyebrow, Thick lower lip vermilion, Hip d...	OMIM:619451
Arthrogryposis, Distal, Type 3	Epicanthus, Congenital hip dislocation, Overlapping toe, Down-sloping shoulders, Camptodactyly of...	OMIM:114300
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Oligodontia, Micropenis, Cleft soft palate, Gingival overgrowth, Mesomelia, Shor...	OMIM:616331
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Epicanthus, Abnormal number of incisors, Coxa valga, Finger clinodactyly, Skin dimple, Bilateral ...	ORPHA:2958
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Epicanthus, Talipes equinovarus, Hirsutism	ORPHA:85288
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal rib morphology, Cleft palate, Long thorax, Halberd-...	ORPHA:2635
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Sandal gap, Short toe, Anterior open-bite malocclusion, Perimembranous ventricu...	OMIM:617877
Cystathioninuria	Talipes equinovarus, Cystathioninuria, Nephrolithiasis	ORPHA:212
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate, Pectus excava...	OMIM:606851
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Short middle phalanx of finger, Talipes equinovarus, Blepharophimosis, Micropenis, B...	OMIM:612626
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Long Qt Syndrome 16	Perimembranous ventricular septal defect	OMIM:618782
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal...	OMIM:216360
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst	OMIM:614970
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Ptosis, Thick eyebrow, Short stature, Proximal placement of thumb, Limi...	OMIM:300590
1Q21.1 Microduplication Syndrome	Hip dysplasia, Hypospadias, Talipes equinovarus, Hip dislocation	ORPHA:250994
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Joubert Syndrome 15	Micropenis, Preaxial polydactyly, Nephronophthisis	OMIM:614464
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Epicanthus, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Hirsutism	OMIM:300434
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Epicanthus, Aplasia/Hypoplasia of the skin, Hypospadias, Telecanthus, ...	ORPHA:3339
Suleiman-El-Hattab Syndrome	Smooth philtrum, Thin upper lip vermilion, Epicanthus, Single transverse palmar crease, Highly ar...	OMIM:618950
Branchio-Oculo-Facial Syndrome	Deep philtrum, Orofacial cleft, Postauricular pit, High palate, Microdontia, Upper lip pit, Preau...	ORPHA:1297
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Neurofaciodigitorenal Syndrome	Epicanthus, Abnormality of the philtrum, Abnormal oral mucosa morphology, Abnormal distal phalanx...	ORPHA:2673
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon	OMIM:235750
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Highly arc...	OMIM:600325
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Spars...	ORPHA:178303
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:3201
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Stillbirth, ...	OMIM:263630
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Nevus flammeus, Dental crowding, Upper limb asymmetry, Hyperhidrosis, Polydactyly, High palate, C...	ORPHA:231140
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Renal c...	OMIM:614815
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m...	OMIM:617926
Joubert Syndrome 22	Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Mic...	OMIM:615665
Neu-Laxova Syndrome 2	Finger syndactyly, Ablepharon, Toe syndactyly, Rocker bottom foot	OMIM:616038
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Single transverse palmar crease, Highly arched eyebrow, Synophrys, Supernumerary toot...	OMIM:617412
Rhizomelic Syndrome	Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Hip dislocation, Pulmonic stenosis, ...	OMIM:268250
Mmep Syndrome	Mandibular prognathia, Split foot, Ventricular septal defect, Triphalangeal thumb	ORPHA:3434
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Skin ulcer, Congenital localized absence of skin, Aplasia cuti...	ORPHA:1114
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Lacrimal duct atresia, Cleft palate, Split foot, Hypodonti...	OMIM:603543
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic...	OMIM:613390
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia ...	ORPHA:3082
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Abnormal hair morpholo...	OMIM:607597
Schilbach-Rott Syndrome	Epicanthus, Hypospadias, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cu...	OMIM:164220
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Aplasia cutis congenita, Widely spaced toes, Clinodactyly of the 5th fing...	OMIM:609638
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Epidermoid cyst, Conical tooth, Carious teeth, Abnormal eyelid morphology, Ect...	ORPHA:1997
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Esophageal diverticulum, Lateral clavicle hook, Postaxial polyd...	OMIM:617925
Joubert Syndrome 10	Epicanthus, Postaxial polydactyly, Deep philtrum, Thick vermilion border, Downslanted palpebral f...	OMIM:300804
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Aplasia/Hypoplasia of t...	ORPHA:1597
Treacher Collins Syndrome 4	Downslanted palpebral fissures, Lower eyelid coloboma	OMIM:618939
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnormality of the dentit...	ORPHA:276422
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication	Hypoplastic toenails, Hip dysplasia, Talipes equinovarus	ORPHA:238578
Diaphanospondylodysostosis	Missing ribs, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thorax, Multiple renal cysts	ORPHA:66637
Arthrogryposis, Distal, Type 2B3	Hallux valgus, Ptosis, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlappi...	OMIM:618436
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:971
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Cleft Palate-Large Ears-Small Head Syndrome	Hypospadias, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Shor...	ORPHA:2013
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Dental crowding, Sandal gap, Postaxial polydactyly, Hypo...	OMIM:615761
Kallmann Syndrome With Spastic Paraplegia	Sparse pubic hair, Micropenis, Pes cavus, Unilateral renal agenesis	OMIM:308750
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Preauricular pit, Syndactyly, Epicanthus, Short stature, Accessory oral frenulum, Hyperpigmented ...	ORPHA:88630
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Lower limb asymmetry, Sparse eyebrow, Scarring alopecia ...	ORPHA:35173
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Synophrys, Downturned corners of mouth, High palate, Widely spaced t...	OMIM:300882
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Nephrolithiasis, Hip dysplasia, Talipes equinovarus, Clinodactyly of...	OMIM:617219
Neu-Laxova Syndrome 1	Micromelia, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger syndactyly, Spina bifida,...	OMIM:256520
Kury-Isidor Syndrome	Finger syndactyly, Alopecia, Ptosis, Rocker bottom foot, Proximal placement of thumb, Hypertricho...	OMIM:619762
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Sho...	ORPHA:2251
Renal Tubular Dysgenesis	Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis, Bilateral single...	ORPHA:3033
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Encephalocraniocutaneous Lipomatosis	Alopecia, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia, Pelvic kidney,...	OMIM:613001
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Cleft soft palate, Sandal gap, Abnormality of the dentition, Clinodactyly, Gingival...	OMIM:618529
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Synostosis of carpal bones, H...	ORPHA:3258
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Supern...	OMIM:263750
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Telecanthus, Small hand, Talipes equinovarus, Camptodac...	OMIM:619980
Joubert Syndrome 16	Encephalocele, Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Synophrys, High palate, Short stature, Highly arched eye...	OMIM:213980
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Telecanthus, Single transverse ...	OMIM:618161
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Lambert Syndrome	Hypospadias, Talipes equinovarus	OMIM:245550
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Cheilitis, Conjunctivitis, Scaling skin, Skin vesicle, Purpura	ORPHA:293173
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3...	ORPHA:2712
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Short stature, Single transverse palmar crease, Bifid di...	ORPHA:370010
Moderate Multiminicore Disease With Hand Involvement	Recurrent patellar dislocation, Intrinsic hand muscle atrophy, Knee dislocation, Distal upper lim...	ORPHA:178145
Chromosome 3Pter-P25 Deletion Syndrome	Synophrys, Downturned corners of mouth, High palate, Preauricular pit, Short stature, Highly arch...	OMIM:613792
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Mesomelia-Synostoses Syndrome	Micromelia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodacty...	ORPHA:2496
Frontofacionasal Dysplasia	Telecanthus, Blepharophimosis, Subcutaneous nodule, Upper eyelid coloboma, Absent inner eyelashes...	ORPHA:1791
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Renal hypoplasia, Urethral obstruction, Cervical ribs, Talipes equinov...	OMIM:601389
Oculoauriculofrontonasal Syndrome	Skin tags, Preauricular skin tag, Limbal dermoid, Upper eyelid coloboma	ORPHA:398156
Grant Syndrome	Bowing of the long bones, Open bite, Abnormal rib morphology, Abnormal pelvic girdle bone morphol...	ORPHA:2097
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Aplastic clavicle, Postaxial polydactyly, Accessory oral frenulum, Micromeli...	OMIM:616546
Arthrogryposis, Distal, Type 1B	Foot joint contracture, Rocker bottom foot, Talipes equinovarus, Camptodactyly, Joint contracture...	OMIM:614335
Acrofrontofacionasal Dysostosis 2	Syndactyly, Sacral dimple, Redundant neck skin, Broad hallux, Short stature, Hypospadias, Hand po...	OMIM:239710
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis	OMIM:620009
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Joubert Syndrome 7	Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,...	OMIM:611560
Schizophrenia 1	Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o...	OMIM:181510
Blepharocheilodontic Syndrome 2	Conical tooth, Lagophthalmos, Cleft lip, Ectropion of lower eyelids, Cutaneous syndactyly, Tooth ...	OMIM:617681
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Lacrimal duct st...	ORPHA:73246
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Short stature, Delayed epiphyseal ossification, Triangular mouth, Genu valgum, Cutaneous syndacty...	ORPHA:166024
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Torus palatinus, Abnormal rib morphology, Diaphyseal thickening	ORPHA:2790
Sweet Syndrome	Abnormality of the hand, Skin nodule, Dilated cardiomyopathy, Pyoderma gangrenosum, Inflammation ...	ORPHA:3243
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Acropectorovertebral Dysplasia	Finger syndactyly, Tarsal synostosis, Camptodactyly of finger, Pectus excavatum, High, narrow pal...	ORPHA:957
Hypomelanosis Of Ito	Syndactyly, Epicanthus, Macular hypopigmented whorls, streaks, and patches, Thick lower lip vermi...	OMIM:300337
Mosaic Trisomy 1	Single transverse palmar crease, Hypoplastic thumbnail, Renal cyst, Finger clinodactyly, Congenit...	ORPHA:1692
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Cousin Syndrome	Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinodactyly of the 5...	OMIM:260660
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Abnormality of the urethra, Split hand, Abnormal rib morphology, C...	ORPHA:2145
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Ectopic kidney, Hypoplasia of t...	OMIM:212780
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Distal upper limb muscle weakness, Tal...	OMIM:619216
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Low anterior hairline, Clinodactyly of the 5th finger, Hypospadias, Highly arched eyeb...	OMIM:619293
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Telecanthus, Unilateral renal agenesis	ORPHA:1064
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb...	ORPHA:2633
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Joubert Syndrome 17	Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Lacrimal duct stenosis, Optic nerve hypoplasia, Unilateral re...	ORPHA:221139
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
W Syndrome	Hypoplasia of the ulna, Telecanthus, Broad uvula, Radial bowing, Metatarsus adductus, Elbow dislo...	ORPHA:2804
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Epicanthus, Cleft soft palate, Pierre-Robin sequence, Long palpebral fi...	OMIM:620183
Oculoauriculovertebral Spectrum With Radial Defects	Preauricular pit, Aplasia/Hypoplasia of the thumb, Short stature, Distal urethral duplication, Re...	ORPHA:2549
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas...	OMIM:113000
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Epicanthus, Telecanthus, Redundant skin, Abnormal eyelash morphology, Non-midl...	ORPHA:1252
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f...	ORPHA:508498
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Sparse eyelashes, Lower eyelid coloboma	OMIM:616367
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P...	OMIM:175700
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Synophrys, Coxa vara, Pectus carinatum, Clinodactyly of the 5th ...	OMIM:614701
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Ectropion of lower eyelids, Preaxial polyda...	OMIM:614976
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cystic renal ...	OMIM:181180
Buratti-Harel Syndrome	Epicanthus, Broad hallux, Hypospadias, Velopharyngeal insufficiency, Submucous cleft hard palate,...	OMIM:619314
Adams-Oliver Syndrome 4	Hypoplastic toenails, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd toe, ...	OMIM:615297
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Cleft palate, Upslanted palpebral fissure, P...	ORPHA:1797
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Richieri-Costa/Guion-Almeida Syndrome	Abnormal digit morphology, Eyelid coloboma, Palmoplantar cutis laxa, Downslanted palpebral fissur...	OMIM:268850
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C...	ORPHA:93316
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Cleft palate,...	ORPHA:2021
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop...	ORPHA:2643
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Vesicoureteral reflux, Abnormality of the wrist, Micropenis, Elbow ankylosis, Sho...	ORPHA:95699
Teebi-Shaltout Syndrome	Syndactyly, Ptosis, Ureteral stenosis, Ulnar deviation of the hand, Single transverse palmar crea...	OMIM:272950
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bil...	ORPHA:2260
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh...	ORPHA:2839
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
White Forelock With Malformations	Finger syndactyly, Epicanthus, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th fi...	ORPHA:2475
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring...	OMIM:156530
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Carious teeth, S...	OMIM:617102
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Charlie M Syndrome	Finger syndactyly, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilion border, Shor...	ORPHA:1406
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Hip contracture, Hydroureter, Epicanthus, Unilateral renal agenesis, Br...	OMIM:619194
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch...	OMIM:605282
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia	ORPHA:3270
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ...	OMIM:184250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Short metacarpal, Tape...	OMIM:612350
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Pectus excavatum, Cleft palate, Pectus carinatum, Glossoptosis, Abnormal metacarpal morphology, L...	ORPHA:166100
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal...	OMIM:611561
Orofaciodigital Syndrome Type 2	Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Hamartoma of tong...	ORPHA:2751
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Epicanthus, Arachnodactyly, Camptodactyly of finger, Short stature, Abnormalit...	ORPHA:2994
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Abnormal thorax morphology, A...	ORPHA:1318
Limb-Mammary Syndrome	Syndactyly, Absent lacrimal punctum, Toe syndactyly, Chronic irritative conjunctivitis, Submucous...	ORPHA:69085
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme...	ORPHA:628
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
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Epicanthus, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Missin...	ORPHA:2759
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Downslanted palpebral fissures, Broad thumb, Smooth philtr...	OMIM:614526
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thicken...	ORPHA:3152
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology	ORPHA:2291
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Microphthalmia, Rocker bottom foot	OMIM:616570
Axial Spondylometaphyseal Dysplasia	Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Deformed rib cage, Coxa vara, Narr...	ORPHA:168549
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Prieto Syndrome	Epicanthus, Coxa valga, Patellar subluxation, Talipes equinovarus, Radial deviation of finger, Pa...	OMIM:309610
Mehmo Syndrome	Tapered finger, Hypoplasia of penis, Talipes equinovarus, Micropenis	ORPHA:85282
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Toe syndactyly, Renal agenesis, Telecanthus, Ectopic kidney, Hypoplasia of t...	ORPHA:140952
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate	OMIM:614120
Whistling Face Syndrome, Recessive Form	Epicanthus, Telecanthus, Shoulder flexion contracture, Elbow flexion contracture, Ulnar deviation...	OMIM:277720
Snijders Blok-Campeau Syndrome	Taurodontia, Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defect, E...	OMIM:618205
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger...	ORPHA:959
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Acromelic Frontonasal Dysostosis	Syndactyly, Telecanthus, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Cleft ...	OMIM:603671
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, ...	OMIM:119580
Roussy-Lévy Syndrome	Intrinsic hand muscle atrophy, Genu valgum, Talipes equinovarus, Urinary bladder sphincter dysfun...	ORPHA:3115
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Bresek Syndrome	Hypoplasia of the bladder, Alopecia, Optic nerve hypoplasia, Postaxial hand polydactyly, Renal hy...	ORPHA:85284
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Low posterior hairline	OMIM:118100
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fis...	OMIM:614083
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Ehlers-Danlos Syndrome, Classic Type, 2	Epicanthus, Congenital hip dislocation, Talipes equinovarus	OMIM:130010
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal pelvic girdle bone...	OMIM:600057
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Pectus carinatum, High palate, Bilateral coxa valga, Bifid uvula, Sca...	OMIM:615582
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Encephalocele, Finger syndactyly, Broad hallux phalanx, Hypospadias, E...	ORPHA:2211
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul...	OMIM:184260
Trisomy 13	Preauricular pit, Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, Hi...	ORPHA:3378
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Sparse pubic hair, Micropenis, Pes cavus, Unilateral renal agenesis	OMIM:308700
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope...	OMIM:200990
Abruzzo-Erickson Syndrome	Epicanthus, Toe syndactyly, Short stature, Hypospadias, Coronal hypospadias, Short toe, Cleft pal...	ORPHA:921
20P13 Microdeletion Syndrome	Thin upper lip vermilion, Telecanthus, Tented upper lip vermilion, Finger syndactyly, Highly arch...	ORPHA:313781
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo...	OMIM:607426
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Clinodactyly, Renal hypoplasia, Sparse hair, Limb unde...	OMIM:616541
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Papule, Finger s...	ORPHA:2907
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Micropenis, Tricuspid ...	OMIM:263520
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Anodontia, Sandal gap, Short hallux, Proximal placement of thumb, Abnor...	ORPHA:90650
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, High, narrow palate, Deep philtrum, Downturned corners of mouth, Sho...	ORPHA:435638
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ...	OMIM:618779
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo...	ORPHA:93351
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Birk-Barel Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Highly arched eyebrow, High palate, ...	OMIM:612292
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Striae distensae, Unilateral renal agenesis	OMIM:606408
Johnson Neuroectodermal Syndrome	Absent eyebrow, Absent eyelashes, Preaxial hand polydactyly, Carious teeth, Cleft palate, Hypohid...	ORPHA:2316
Spastic Paraplegia 33, Autosomal Dominant	Ankle clonus, Talipes equinovarus	OMIM:610244
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid...	ORPHA:2750
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, G...	OMIM:201000
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a...	ORPHA:93323
Hemifacial Microsomia With Radial Defects	Preauricular pit, Short mandibular rami, Preauricular skin tag, Non-midline cleft lip, Cleft pala...	OMIM:141400
Mungan Syndrome	Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis	OMIM:611376
Nail-Patella Syndrome	Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes calcaneovalgus...	ORPHA:2614
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping sho...	ORPHA:392
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cys...	OMIM:270400
Anophthalmia Plus Syndrome	Deviation of finger, Eyelid coloboma, Blepharophimosis	ORPHA:1104
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Short stature, Hamartoma of tongue, Accessory oral ...	OMIM:277170
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Hypospadias, Ventricular septal defect, Tapered finger, Absent frontal sin...	OMIM:301040
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal location of the eyebrow, Optic ne...	ORPHA:141099
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morpholog...	ORPHA:1794
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Upslanted palpebral fissure, Bilateral talipes equinovarus	OMIM:616486
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Sparse eyelashes, Sparse eyebrow, Metaphy...	OMIM:250410
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re...	OMIM:603194
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Epicanthus, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft lip...	OMIM:619122
Hypophosphatasia	Bowing of the long bones, Abnormality of the dentition, Abnormal rib morphology, Skin dimple, Nar...	ORPHA:436
Distal 22Q11.2 Microduplication Syndrome	Epicanthus, Toe syndactyly, Palpebral edema, Camptodactyly of finger, Unilateral renal agenesis, ...	ORPHA:261337
Nail-Patella Syndrome	Ridged nail, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horns, Clinodac...	OMIM:161200
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Myhre Syndrome	Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal penis morphology, Hypospadias, Ab...	ORPHA:2588
Ventriculomegaly And Arthrogryposis	Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus	OMIM:619501
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Short stature, Bilateral single tran...	ORPHA:2377
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly, Hypospadias, Renal cyst	OMIM:605231
Rapadilino Syndrome	Short stature, Sparse eyelashes, Absent thumb, Aplasia/Hypoplasia of the patella, High, narrow pa...	OMIM:266280
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, Pectus excavatum, Cleft palate, Pectus carinatum, High palate, Cervical ribs, Pt...	OMIM:609654
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Hypoplastic toenails, Eyelid coloboma, Foot polydactyly, Short palm, Microphthalmia	ORPHA:268249
Split-Hand/Foot Malformation 3	Narrow mouth, Split hand, Renal hypoplasia, Cleft palate, High palate, Camptodactyly	OMIM:246560
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Telecanthus, Severe short stature, Carious teeth, Hip di...	OMIM:203550
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Hypospadias, Sandal gap, Camptodactyly of finger, Down-s...	ORPHA:1520
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Widely-spaced maxillary central incisors, Oligodontia, Partial duplicat...	ORPHA:363417
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Talipes equinovarus	ORPHA:85338
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Talipes equinovarus, Upper limb amyotrophy	ORPHA:99940
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Absent eyebrow, Alopecia, Absent eyelashes, Metaphys...	ORPHA:166035
Wiedemann-Steiner Syndrome	Synophrys, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Bro...	OMIM:605130
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Epicanthus, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absen...	OMIM:617641
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Pectus excavatum, Hyp...	OMIM:311900
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Short philtrum, High palate, Short statu...	ORPHA:96121
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Low posterior hairline, Spina bifida occulta, Hypertri...	OMIM:619227
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty...	ORPHA:65759
Pierpont Syndrome	Pes planus, Telecanthus, Short toe, Abnormality of the plantar skin of foot, Narrow palpebral fis...	ORPHA:487825
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Hip dysplasia, Areflexia of lower limbs, Tal...	OMIM:611890
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Numerous nevi, Penile freckling, Preaxial hand polydactyly, Foot polydactyl...	ORPHA:210548
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Lateral clavicle hook, High, narrow palate, 2-3 toe cu...	OMIM:600920
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Eem Syndrome	Finger syndactyly, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ...	ORPHA:1897
Spinocerebellar Ataxia, Autosomal Recessive 20	Epicanthus, Hypertrichosis, Oligosacchariduria, Talipes equinovarus, Camptodactyly, Clinodactyly,...	OMIM:616354
Orofaciodigital Syndrome Iii	Pectus excavatum, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot...	OMIM:258850
3M Syndrome	Congenital hip dislocation, Hypoplastic ischia, Micromelia, Enlarged thorax, Clinodactyly of the ...	ORPHA:2616
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Jacobsen Syndrome	Broad hallux phalanx, Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, Pes planus...	ORPHA:2308
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Preauricular pit, Epicanthus, Abnormality of the philtrum, Short stature, Bilateral single transv...	ORPHA:1770
8Q24.3 Microdeletion Syndrome	Skin tags, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral ren...	ORPHA:508488
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ptosis, Hypoplastic fingernail, Epicanthus, Re...	OMIM:220500
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Epicanthus, Rhizomelia, Abnormal dental enamel morphology, Abno...	ORPHA:1515
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Hirsutism	OMIM:619318
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Short stature, Cleft pal...	ORPHA:251019
Melnick-Needles Syndrome	Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morph...	ORPHA:2484
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia/Hypoplasia of the fibula,...	ORPHA:2256
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Hypospadias, Ectopic kidney	OMIM:606744
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli...	ORPHA:1300
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Postaxial h...	OMIM:615994
Verheij Syndrome	Branchial cyst, Renal agenesis, Optic nerve hypoplasia, Hip dislocation, Renal hypoplasia, Renal ...	OMIM:615583
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Fetal pyelectasis, Knee flexion contr...	OMIM:616531
Orofaciodigital Syndrome V	Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap,...	OMIM:174300
Isolated Klippel-Feil Syndrome	Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, Ectopic anus, Sprengel anoma...	ORPHA:2345
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Absent eyelashes, Cleft lip, Cleft palate, Cutaneous syndactyly, Palmoplantar ker...	ORPHA:2890
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Upper eye...	ORPHA:457284
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Sh...	ORPHA:783
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Talipes equinovarus, Peroneal muscle atrophy	OMIM:181400
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma	OMIM:613456
Xylt1-Cdg	Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion border, ...	ORPHA:370930
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyelashes, Abnormality of the philtrum, Cleft upper lip, Sparse eyebrow, Cleft palate, Pal...	OMIM:225060
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Abnormal dental morphology, Pectus excavatum, Abnormal...	ORPHA:2522
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna...	OMIM:269250
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Rhizomelia, Dumbbell-sh...	OMIM:228520
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Telecanthus, Redundant neck skin, Hypospadias, Optic nerve hypoplas...	OMIM:301056
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short palm, Finger syndactyly, Epicanthus, Short stature, Camptodactyl...	ORPHA:915
Orofaciodigital Syndrome Ix	Telecanthus, Median cleft lip, Toe syndactyly, Short stature, Accessory oral frenulum, Abnormalit...	OMIM:258865
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Aplasia/Hypoplasia of the skin, Short stature, Sparse eyelashes, Abnormal eyel...	ORPHA:1787
Meckel Syndrome, Type 3	Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyl...	OMIM:607361
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ...	ORPHA:1354
Summitt Syndrome	Finger syndactyly, Epicanthus, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of ...	ORPHA:3210
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Telecanthus, Abnormal fingernail morpho...	ORPHA:2036
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas...	ORPHA:110
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Pes cavus, Talipes equinovarus, Upper limb amyotrophy	OMIM:617087
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Patent ductus arteriosus,...	OMIM:615996
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Epicanthus, Redundant neck skin, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary a...	ORPHA:2519
Gorlin-Chaudhry-Moss Syndrome	Abnormal eyelid morphology, Abnormal foot morphology, Patent ductus arteriosus, Low anterior hair...	ORPHA:2095
Atelosteogenesis Type Ii	Micromelia, Narrow chest, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand...	ORPHA:56304
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Pyloric stenosis, Congenital localized absence of skin, Atrophic scars...	OMIM:226700
Microcephaly-Albinism-Digital Anomalies Syndrome	Aplasia/Hypoplasia of the distal phalanges of the toes, Short distal phalanx of finger, Micrognathia	ORPHA:2513
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Biemond Syndrome Ii	Preaxial hand polydactyly, Short stature	OMIM:210350
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h...	ORPHA:261344
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Camptodact...	ORPHA:468631
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,...	OMIM:211350
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Micrognathia, Secundum atrial septal defect, Perimembranous ventricular septa...	OMIM:608779
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Telecanthus, Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Ab...	ORPHA:2010
Cleidocranial Dysplasia	High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia, Clinodacty...	ORPHA:1452
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Dacryocystitis, Abnormal ...	ORPHA:166119
Orofaciodigital Syndrome Xiv	Natal tooth, Telecanthus, Broad hallux, Hamartoma of tongue, Epispadias, Postaxial hand polydacty...	OMIM:615948
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Highly arched eyebrow, B...	ORPHA:404440
Silver-Russell Syndrome 3	Syndactyly, Short stature, Postnatal growth retardation, Patent ductus arteriosus, Small hand, An...	OMIM:616489
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Epicanthus, Redundant neck skin, Overlapping toe, Exaggerated cupid's bow, Single trans...	ORPHA:254528
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Epicanthus, Polydactyly, Nephroblastoma, Downslanted palpebral fissures, Smooth philtrum	OMIM:602501
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Hypospadias, Polydactyly, Intrauterine growth retardation, Hypoplastic ischia	OMIM:616910
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Martsolf Syndrome 1	Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short palm, Abnormal toen...	OMIM:212720
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Talipes equinovarus, Camptodactyly	OMIM:608104
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of mouth, Hip dyspla...	ORPHA:531151
Joubert Syndrome 37	Postaxial polydactyly, Sparse hair, Microphthalmia, Micropenis, Hydronephrosis, Ptosis	OMIM:619185
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Postnatal growth retardation, Cutaneous synd...	OMIM:272440
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Short thumb, Radial club hand, Hypoplasia ...	ORPHA:1972
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Pes planus, Ptosis, Epicanthus, Highly arched eyebrow, Metatarsus ...	OMIM:301069
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Aase-Smith Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal hip bone...	ORPHA:916
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Telecanthus, Short femur, Fractured radius, Hypospadias, Beaded ribs, Dec...	OMIM:616897
Marden-Walker Syndrome	Epicanthus, Hypospadias, Arachnodactyly, Renal hypoplasia, Radioulnar synostosis, Talipes equinov...	OMIM:248700
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Brachydactyly,...	ORPHA:1001
Treacher Collins Syndrome 3	Downslanted palpebral fissures, Lower eyelid coloboma	OMIM:248390
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Cleft palate, Thin ribs, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachydactyly	OMIM:618265
Rapp-Hodgkin Syndrome	Conical tooth, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula, Syndactyly, Short stature,...	OMIM:129400
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Unilateral renal agenesis, Patent ductus arteriosus, Femoral bowi...	OMIM:618188
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ...	OMIM:615382
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Absent lacrimal punctum, Sparse eyelashes, Abnormal...	ORPHA:1071
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Synophrys, Pectus carinat...	OMIM:615777
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s...	ORPHA:158684
Trisomy 17P	Hypoplasia of penis, Urethral valve, Talipes, Tapered finger, Patent ductus arteriosus, Urethral ...	ORPHA:261290
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Pes planus, Achilles tendon contracture, Decreased patellar re...	OMIM:615290
Spastic Paraplegia 64, Autosomal Recessive	Talipes equinovarus	OMIM:615683
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Charcot-Marie-Tooth Disease, Type 4H	Small hypothenar eminence, Small thenar eminence, Talipes equinovarus, Distal lower limb muscle w...	OMIM:609311
Seckel Syndrome 5	11 pairs of ribs, Hypospadias, Selective tooth agenesis, Blepharophimosis, Cleft palate, Oligodon...	OMIM:613823
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Scaling skin, Periungual erythema, Atrichia, Neonatal death, Dystrophic fingernails, Absent eyebr...	OMIM:308205
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Cleft palate, Femoral bowing, N...	ORPHA:83
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5...	OMIM:180860
Arthrogryposis, Distal, Type 1A	Hip contracture, Ptosis, Congenital hip dislocation, Overlapping toe, Single transverse palmar cr...	OMIM:108120
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Abnormal rib morphology, Tracheoesophageal fistula, Pectus carinatum, Abnorm...	ORPHA:3068
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Pectus carinatum, Downturned co...	ORPHA:1507
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Long fingers, Patent ductus arteriosus, W...	OMIM:617746
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, High, narrow palate, Anodontia, Short m...	ORPHA:2980
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Preaxial polydactyly, Cleft ...	OMIM:243605
Diastrophic Dysplasia	Hip contracture, Flattened epiphysis, Ulnar deviation of finger, Genu valgum, Irregular epiphyses...	OMIM:222600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Trisomy 20P	Low anterior hairline, Coarse hair, Finger syndactyly, Hypospadias, Abnormality of the kidney, Sp...	ORPHA:261318
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Postnatal growth retardation, Cleft palate, Short 5th finger, Polydactyl...	ORPHA:397590
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Hypospadias, Arachnodactyly, Unilateral renal agenesis, Structural...	ORPHA:464306
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Congenital hip dislocation, Aplasia cutis congeni...	ORPHA:217346
Zaki Syndrome	Sacral dimple, Toe syndactyly, Short stature, Renal agenesis, Sparse eyebrow, Long fingers, Paten...	OMIM:619648
Jacobsen Syndrome	Ptosis, Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morphology, Nasolacrimal duct obst...	OMIM:147791
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anterior rib cupping, Metaphyseal widening, Broad palm, Coxa vara, Thin ribs, Metaphyseal cupping...	OMIM:300232
Kbg Syndrome	Thin upper lip vermilion, Telecanthus, Macrodontia, Short stature, Single transverse palmar creas...	ORPHA:2332
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Epicanthus, Broad hallux, Sandal gap, Micromelia, Short stature, Postnatal growth ret...	OMIM:614800
Zttk Syndrome	Downturned corners of mouth, High palate, Short philtrum, Bifid uvula, Short stature, Sparse eyeb...	OMIM:617140
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Nephronophthisis 15	Polydactyly, Nephronophthisis	OMIM:614845
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Transposition of the great arte...	OMIM:231060
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal fingertip morphology, Postnatal growth retardation, Almond-shaped palpebral fissure, Dow...	ORPHA:529965
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abnormal rib morphology, Cleft pal...	ORPHA:2167
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Increased density of long bone diaphyses, High ...	OMIM:305620
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Vesi...	OMIM:244600
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, Renal hypoplasia, 2-3 toe syndactyly, Small thenar eminence, Umbilical...	OMIM:618914
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Syndactyly, Epicanthus, Narrow mouth, Growth delay, Camptodactyly, Blepharop...	OMIM:616006
Constricting Bands, Congenital	Encephalocele, Syndactyly, Eyelid coloboma, Hand polydactyly, Talipes equinovarus, Bladder exstrophy	OMIM:217100
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Intellectual Developmental Disorder, Autosomal Recessive 61	Thick hair, Highly arched eyebrow, Tapered finger, Long fingers, Synophrys, Long eyelashes, Talip...	OMIM:617773
Actinic Prurigo	Glomerulonephritis	OMIM:174770
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:276621
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla...	OMIM:613573
Vater/Vacterl Association	Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachus, Vesicoureteral reflux,...	OMIM:192350
Joubert Syndrome 14	Encephalocele, Epicanthus, Postaxial polydactyly, Highly arched eyebrow, Meningocele, Renal cyst,...	OMIM:614424
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Multiple pterygia, Abnormal eyelid morphology, Symphalangism affecting the p...	ORPHA:2990
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Ulnar deviation of the hand, Telecanthus, Frontotemporal hypertrichosis, Metaphyseal ...	OMIM:263210
Momo Syndrome	Epicanthus, Hyperconvex nail, Bilateral microphthalmos, Femoral bowing, Large hands, Eyelid colob...	ORPHA:2563
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Persistent fetal circulation, Smooth philtrum, Tricuspid regurgita...	OMIM:612863
Multiple Pterygium-Malignant Hyperthermia Syndrome	Naevus flammeus of the eyelid, Downturned corners of mouth, Advanced eruption of teeth, Finger sy...	ORPHA:2215
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis	OMIM:616239
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Accessory oral frenulum, Preaxial hand polydactyly, Cleft palate, Upslan...	ORPHA:79113
Chromosome 19Q13.11 Deletion Syndrome, Distal	Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Aplasia cutis congen...	OMIM:613026
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Preauricular pit, Renal agenesis, Bilateral single transverse palmar creases, Renal hypoplasia/ap...	ORPHA:2516
Roifman Syndrome	Thin upper lip vermilion, Short metacarpal, Hip contracture, Short stature, Single transverse pal...	OMIM:616651
Bifid Nose With Or Without Anorectal And Renal Anomalies	Thick eyebrow, Renal agenesis, Unilateral renal agenesis	OMIM:608980
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Neonatal death, Micropenis, Distal shortening of limbs, Syndactyly, M...	OMIM:146510
Basal Cell Nevus Syndrome 1	Skin tags, Short distal phalanx of the thumb, Odontogenic keratocysts of the jaw, Down-sloping sh...	OMIM:109400
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Proximal placement of thumb, Preaxial hand polydactyly, Esophageal atres...	OMIM:610536
Mucopolysaccharidosis, Type Ix	Finger joint hypermobility, Submucous cleft hard palate, Bifid uvula, Acetabular erosions	OMIM:601492
Autosomal Recessive Amelia	Hypoplasia of penis, Micrognathia, Abnormal cardiac septum morphology, Amelia involving the upper...	ORPHA:1027
Cranioectodermal Dysplasia 3	Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, 2-...	OMIM:614099
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle hook, Hypopl...	OMIM:617895
Autosomal Dominant Cutis Laxa	Pes planus, Dermal translucency, Redundant neck skin, Genu recurvatum, Redundant skin, Unilateral...	ORPHA:90348
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Intestinal malrotation, Abnorm...	ORPHA:1553
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Glossoptosis, High palate, Hypospadias, Rhiz...	OMIM:611209
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Ap...	ORPHA:958
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Short stature, Tapered finger, Cleft lip, Small hand, Cleft palate, Downturned corner...	OMIM:618089
Holt-Oram Syndrome	Hypoplasia of the ulna, Short humerus, Syndactyly, Ventricular septal defect, Absent thumb, Aplas...	OMIM:142900
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Dihydropyrimidinase Deficiency	Uraciluria, Short phalanx of finger, Talipes equinovarus	OMIM:222748
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Familial Spontaneous Pneumothorax	Pneumothorax, Abnormal pleura morphology	ORPHA:2903
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double-layered patel...	ORPHA:93307
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Pes planus, Elbow flexion contracture, Knee flexion contracture, Talipes equinov...	OMIM:600175
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Patent ductus arteriosus, Congenital posterior urethral ...	OMIM:100100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa vara, ...	OMIM:608940
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Trichodiscoma, Renal cyst, Renal cell carcinoma, Sebaceous hyperplasia	OMIM:135150
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Abnormal hip bone morphology, Renal hypoplasia/aplasia	ORPHA:1166
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont...	OMIM:608670
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Enlargement of the costochondral junction, Capitate-hama...	OMIM:271650
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal stippling, Abnorm...	OMIM:302960
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Thin ribs, Pectus...	OMIM:612921
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Refsum Disease	Short metacarpal, Renal insufficiency, Abnormal foot morphology, Hammertoe, Abnormal epiphysis mo...	ORPHA:773
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Sparse eyebrow, Abnormal soft p...	ORPHA:884
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Microphallus, Short stature, Hypospadias, Narrow mouth, Smooth philt...	ORPHA:94065
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria	OMIM:274270
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Nephrocalcinosis, Short palm, Micropenis, Duplicatio...	OMIM:268310
Pallister-Hall Syndrome	Ectopic kidney, Micropenis, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Short stature, Hyp...	ORPHA:672
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Craniometadiaphyseal Dysplasia	Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth, Cubitus valgus, Flared...	OMIM:269300
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re...	OMIM:611134
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Enuresis nocturna, Eyelid coloboma, Short 4th toe, Clinodactyly of th...	OMIM:615873
Spastic Paraplegia 45, Autosomal Recessive	Talipes equinovarus	OMIM:613162
Al Kaissi Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Short stature, Sacral dimple, Pos...	OMIM:617694
Diamond-Blackfan Anemia 21	Hallux valgus, Unilateral ptosis, Aortic regurgitation, Sandal gap, Tapered finger, Preaxial hand...	OMIM:620072
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Orbital cyst	OMIM:251505
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Short stature, Brachydactyly	OMIM:610023
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, High palate, Sprengel ano...	ORPHA:2180
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty...	OMIM:300963
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Short Tarsus With Absence Of Lower Eyelashes	Absent lower eyelashes, Hypoplasia of the lower eyelids	OMIM:600269
Frontonasal Dysplasia 1	Ptosis, Epicanthus, Postaxial hand polydactyly, Widow's peak, Anterior basal encephalocele, Pecto...	OMIM:136760
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, Premature loss of teeth, Abnormal met...	OMIM:224300
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Triangular mouth, Flattened epiphysis, Pe...	OMIM:607131
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Disproportionate short stature, Short metatarsal, Limited e...	ORPHA:1856
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ...	ORPHA:567546
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered finger, Periorbital der...	OMIM:615560
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Short stature, Abnormal morphology of ulna,...	ORPHA:1307
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Blepharophimosis, Meningocele, Renal cyst, Clinodactyly of the 5th ...	ORPHA:2031
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus, Absent fingernail, Limit...	OMIM:276821
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, P...	OMIM:619489
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate, Horizontal eyebrow	ORPHA:209908
Meier-Gorlin Syndrome 1	Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Cutaneous finger syndactyly, High pa...	OMIM:224690
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Epicanthus, Broad hallux, Single transverse palmar crease...	OMIM:614105
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Elbow...	OMIM:617468
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Microtriplication 11Q24.1	Metatarsus adductus, Synophrys, Small hand, Genu valgum, Short foot, Upslanted palpebral fissure,...	ORPHA:289522
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border...	ORPHA:544254
Erythema Of Acral Regions	Erythema, Talipes equinovarus	OMIM:227000
Arthrogryposis, Distal, Type 2E	Joint contracture of the hand, Foot joint contracture, Talipes equinovarus	OMIM:121070
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, Shallow orbits, Phocomelia, Sparse ha...	OMIM:268300
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Abnormal renal morphology, Hypoplasia of the r...	OMIM:609053
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit, Ankyloblepharon	ORPHA:1072
Mullerian Aplasia And Hyperandrogenism	Hirsutism, Unilateral renal agenesis	OMIM:158330
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Ptosis, Short stature, Symphalangism affecting the phalanges of...	ORPHA:710
Hartsfield Syndrome	Telecanthus, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius, I...	ORPHA:2117
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Finger syndactyly, Preauricular pit, Short stature, Hypospadias, Bilateral singl...	ORPHA:1786
Nescav Syndrome	Talipes equinovarus	OMIM:614255
Summitt Syndrome	Syndactyly	OMIM:272350
Neurooculorenal Syndrome	Hypoplasia of the bladder, Intestinal malrotation, Short hallux, Unilateral renal agenesis, Postn...	OMIM:620305
Pilarowski-Bjornsson Syndrome	Postnatal growth retardation, Almond-shaped palpebral fissure, Long eyelashes, Prominent fingerti...	OMIM:617682
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Noonan Syndrome 13	Duplicated collecting system, Pes planus, Ptosis, Epicanthus, Overlapping toe, Highly arched eyeb...	OMIM:619087
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Short metatarsal, Oligodontia, High palate, Prominent U wave, Short palm, Clinod...	OMIM:170390
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Tapered finger, Ankle flex...	ORPHA:464311
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Metaphyseal widening, Coxa vara, Ante...	OMIM:255800
Bohring-Opitz Syndrome	Vesicoureteral reflux, Dislocated radial head, Syndactyly, Short stature, Cleft upper lip, Tapere...	OMIM:605039
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Capitate-hamate fusion, Short toe, Limited elbow extension, Clef...	OMIM:614078
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Zechi-Ceide Syndrome	Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Narrow palpebral fissure, Oligodonti...	OMIM:612916
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis, Absent thumb	OMIM:619239
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Ptosis, Telecanthus, Hypospadias, Redundant neck skin, Proximal placement of thumb, P...	OMIM:217980
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
Achondrogenesis, Type Ii	Barrel-shaped chest, Broad long bones, Short tubular bones of the hand, Cleft palate, Short long ...	OMIM:200610
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Rocker bottom foot, Sparse hair, Microphthalmia, Micropenis	OMIM:610756
C Syndrome	Micromelia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Short metacarpal...	OMIM:211750
Adams-Oliver Syndrome 6	Syndactyly, Hypoplastic toenails, Renal hypoplasia, Foot oligodactyly, Brachydactyly	OMIM:616589
Peroxisome Biogenesis Disorder 4A (Zellweger)	Upslanted palpebral fissure, Epiphyseal stippling, Epicanthus inversus, Renal cyst	OMIM:614862
Joubert Syndrome 40	Almond-shaped palpebral fissure, Postaxial polydactyly	OMIM:619582
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Epicanthus, Hypospadias, Short toe, Talipes equinovarus, Downslanted palpebral fissures, Aplasia/...	ORPHA:98791
Kindler Epidermolysis Bullosa	Urethral stricture, Gingivitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Per...	ORPHA:2908
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Non-midline cleft lip, Cleft palate, Orofacial clef...	ORPHA:1752
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Patent ductus arteriosus, ...	ORPHA:171839
Leopard Syndrome 1	Scapular winging, Epicanthus, Short stature, Hypospadias, Unilateral renal agenesis, Limited elbo...	OMIM:151100
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Epicanthus, High, narrow palate, Submucous cleft hard palate, High ili...	ORPHA:2780
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chondromatosis of radius, Short p...	ORPHA:99646
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a...	OMIM:173800
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Epicanthus, Coxa valga, Abnormality of the elbow, Flat acetabular roof, Oligosacchariduria, Hemia...	ORPHA:163649
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Hypospadias, Epicanthus, High anterior hair...	OMIM:615546
Achondrogenesis Type 1B	Micromelia, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Talipes equinovarus,...	ORPHA:93298
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Ptosis, Telecanthus, Redundant neck skin, Hypospadias, Proximal placement of thumb, Supernumerary...	OMIM:604314
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Hypospadias, Camptodactyly of finger, Short th...	ORPHA:2311
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Stage 5 chronic kidney dise...	OMIM:619487
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Pallister-Hall-Like Syndrome	Median cleft lip, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Hip disl...	OMIM:241800
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi...	ORPHA:2752
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Talipes equinovarus	OMIM:208100
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Preauricular pit, Submucous cleft hard palate, Preauricular sk...	OMIM:609166
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Epicanthus, Short stature, Abnormality of the hand, Clinodactyly, Downturned corners ...	ORPHA:369891
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Epicanthus, Short hallux, Supernumerary...	ORPHA:3224
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capital femoral ...	OMIM:147891
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Pai Syndrome	Skin tags, Telecanthus, Median cleft lip, Subcutaneous nodule, Cleft palate, Abnormal oral frenul...	ORPHA:1993
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Epicanthus, Hypospadias, Abnormality of the kidney, Single transver...	OMIM:123450
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Toe syndactyly, Patent ductus arteriosus, Short foot, Hand poly...	ORPHA:250989
Multiple Pterygium Syndrome, Escobar Variant	Downturned corners of mouth, High palate, Intercrural pterygium, Camptodactyly of toe, Pterygium,...	OMIM:265000
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Rectal prolapse, Pectus...	OMIM:303600
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:617562
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Ptosis, Short stature, Single transverse pal...	OMIM:305400
Atelosteogenesis Type I	Telecanthus, Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, ...	ORPHA:1190
Robinow Syndrome, Autosomal Dominant 3	Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral reflux, Micropenis, Short pha...	OMIM:616894
Cranioectodermal Dysplasia 2	Unilateral ptosis, Renal cyst, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Micro...	OMIM:613610
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification,...	OMIM:114290
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Urethr...	ORPHA:1896
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Abnormality of the nail, Finger syndacty...	ORPHA:2092
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Rocker bottom foot, Spina bifida, Micromelia, Elbow disloca...	ORPHA:99776
Camptobrachydactyly	Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract...	OMIM:114150
Diaphanospondylodysostosis	Epicanthus, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Narrow pelvis bone, Hammerto...	OMIM:608022
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te...	OMIM:619950
Momo Syndrome	Epicanthus, Large hands, Eyelid coloboma, Short sternum, Downslanted palpebral fissures	OMIM:157980
20Q13.33 Microdeletion Syndrome	Hallux valgus, Pes planus, Epicanthus, Hypospadias, Highly arched eyebrow, Tapered finger, Abnorm...	ORPHA:261311
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Intestinal malrotation, Abnormal rib morphology, Abnorma...	ORPHA:3035
Branchioskeletogenital Syndrome	Upper limb peromelia, Synophrys, Anteriorly placed anus, Downturned corners of mouth, Eyelid colo...	ORPHA:1299
Chromosome 6Q11-Q14 Deletion Syndrome	Pes planus, Epicanthus, Single transverse palmar crease, Low anterior hairline, Upslanted palpebr...	OMIM:613544
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Congestive heart failure, Tibial bowing, Bell...	OMIM:166210
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hip dis...	OMIM:613330
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Femoral bowing, Abnormal shoulder morphology, ...	OMIM:274000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Talipes equinovarus	OMIM:616171
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Tapered finger, Submucous cleft hard palate, Enuresis noctu...	OMIM:619680
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo...	OMIM:615986
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Cleft palate, Methylmalonic aciduria, Growth delay, Stomatitis, Intrau...	ORPHA:79284
Kinsship Syndrome	Single transverse palmar crease, Synophrys, Downturned corners of mouth, Short philtrum, Widely s...	OMIM:619297
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Skin tags, Median cleft lip, High palate, Downslanted palpebral fissures, Bifid uvula	OMIM:155145
Halperin-Birk Syndrome	Perimembranous ventricular septal defect, Hip dislocation, Talipes equinovarus, Micrognathia	OMIM:618651
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, 2-3 finger syn...	ORPHA:2437
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Recurrent urinary tract infections, Sacral dimple, Short stature, Cleft soft palat...	ORPHA:268261
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Cleft ...	OMIM:601701
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Cardiofaciocutaneous Syndrome	Redundant skin, High palate, Abnormal morphology of ulna, Abnormal eyelash morphology, Sparse or ...	ORPHA:1340
Penoscrotal Transposition	Epicanthus, Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, P...	ORPHA:2842
Opitz-Kaveggia Syndrome	Skin tags, Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fi...	OMIM:305450
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Pes planus, Epicanthus, Telecanthus, Patent ductus arteriosus, Renal cyst, Upslanted palpebral fi...	OMIM:617260
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Palpebral edema, Single transverse palmar crease, Metatarsus adductus, Upslanted palp...	OMIM:214110
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Abnormal preputium morphology, Glandular hypospadias, Deep palmar crease, Shor...	ORPHA:293725
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Glandular hypospadias, Thin ribs, High palate, Micropenis, Penile hypospadias, Penoscrotal hyposp...	ORPHA:456328
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Polycystic kidney dysplasia	OMIM:614859
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Highly arched eyebrow, Synophrys, Abnormality of the...	ORPHA:3253
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Hypoplastic ilia, Patellar apla...	ORPHA:85201
Masa Syndrome	Pes cavus, Talipes equinovarus, Adducted thumb	OMIM:303350
2P15P16.1 Microdeletion Syndrome	Pes planus, Multicystic kidney dysplasia, Ptosis, Sandal gap, Optic nerve hypoplasia, Camptodacty...	ORPHA:261349
Lenz-Majewski Hyperostotic Dwarfism	Redundant skin, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism affect...	ORPHA:2658
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio...	OMIM:605432
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Single transverse palm...	OMIM:210600
Spondylometaphyseal Dysplasia, Sedaghatian Type	Redundant skin, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciati...	OMIM:250220
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Flared, irregular rib ends, Coxa vara, Short palm	ORPHA:168555
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Synophrys, Broad palm, Broad n...	OMIM:300280
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Waardenburg Syndrome, Type 3	Scapular winging, Telecanthus, Camptodactyly of finger, Blepharophimosis, Synophrys, Hypopigmente...	OMIM:148820
Intellectual Disability-Strabismus Syndrome	Epicanthus, Telecanthus, Hypospadias, Rocker bottom foot, Highly arched eyebrow, Patent ductus ar...	ORPHA:363528
Hyperekplexia 4	Umbilical hernia, Adducted thumb, Talipes equinovarus, Camptodactyly	OMIM:618011
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing,...	OMIM:180849
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia, Ptosis	ORPHA:1473
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnorma...	OMIM:256050
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Intern...	OMIM:619503
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Sparse scalp hair, Overlapping fingers, Hypospadias, Single transverse palmar ...	ORPHA:464738
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Finger clinodactyl...	ORPHA:306542
Acrorenal-Mandibular Syndrome	High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe syndactyly, Hypopl...	OMIM:200980
Multiple Pterygium Syndrome, X-Linked	Epicanthus, Multiple pterygia, Cleft upper lip, Cleft palate, Thin ribs, Short finger	OMIM:312150
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hypoplastic il...	OMIM:611717
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Hyperhidrosis, Cutaneo...	OMIM:101200
Camptodactyly Syndrome, Guadalajara Type 2	Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Tali...	ORPHA:1326
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hooded eyelid, Single transverse palmar crease, Proximal placement of thumb, Limited elbow moveme...	OMIM:610759
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overlapping fingers, Narrow palate, Femoral bowing, Macroglossia, Short long ...	OMIM:617022
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:29072
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Achondrogenesis, Type Ia	Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Be...	OMIM:200600
Microcephaly-Microcornea Syndrome, Seemanova Type	Upslanted palpebral fissure, Microphthalmia, Epicanthus	ORPHA:2528
Carey-Fineman-Ziter Syndrome	Ptosis, Epicanthus, Short stature, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Aplas...	ORPHA:1358
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Clinodactyly, Clinodactyly of the 5th finger, Finger syndactyly, Ab...	ORPHA:2710
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, High palate, Clinodactyl...	ORPHA:570
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Postaxial hand polydactyly, Renal agenesis, Aganglionic megacolon, Foot polydactyly	ORPHA:2155
Chikungunya	Abnormal bleeding, Macule, Epistaxis, Raynaud phenomenon, Erythema, Gingival bleeding, Skin vesic...	ORPHA:324625
Cranioectodermal Dysplasia 4	Epicanthus, Short stature, Stage 5 chronic kidney disease, Cutis laxa, Hip dysplasia, Thin vermil...	OMIM:614378
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F...	OMIM:250420
Retinitis Pigmentosa 51	Pallor, Polydactyly, Abnormality of the kidney	OMIM:613464
Congenital Myopathy 17	Ureteropelvic junction obstruction, Telecanthus, Tented upper lip vermilion, Overlapping toe, Tap...	OMIM:618975
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation...	OMIM:108721
Cohen Syndrome	Abnormal eyelid morphology, High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, ...	ORPHA:193
Warburg Micro Syndrome 1	Overlapping toe, Hypertrichosis, Facial hypertrichosis, Microphthalmia, Ptosis	OMIM:600118
Temtamy Syndrome	Pes planus, Telecanthus, Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, B...	ORPHA:1777
Laurence-Moon Syndrome	Abnormality of the hand, Micropenis, Polydactyly, Short stature	OMIM:245800
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Single transverse palmar crease, Ketonuria, Renal hypoplasia	OMIM:619053
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal...	ORPHA:3429
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Knee flexion contracture, Upslanted palpebral fissure, Long palpebral fis...	OMIM:619694
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to...	OMIM:311200
Acromelic Frontonasal Dysplasia	Telecanthus, Median cleft lip, Patellar hypoplasia, Dermoid cyst, Wide mouth, Talipes equinovarus...	ORPHA:1827
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Patchy alopecia, Talipes equinovarus, Short palm, Clinod...	ORPHA:85279
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Abnormality of the urinary system, Postaxial polydactyly	OMIM:213010
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, High palate, Clin...	ORPHA:235
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micropenis, Humeroradial synostosis, Rib fusion,...	OMIM:134780
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnorma...	ORPHA:1834
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Epicanthus, Hypospadias, Multiple pterygia, Hypoplastic nipples, Talipes equinovarus, Pterygium	OMIM:177980
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Synophrys, Clinodactyly of the 5th finger, Caudal a...	OMIM:257920
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Duplication of phalanx of hallux, Lo...	OMIM:243310
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Ptosis, Patchy hypopigmentation of hair, Optic disc hypoplasia, ...	ORPHA:233
Enlarged Parietal Foramina	Cleft lip, Cleft palate, Short clavicles, Aplasia cutis congenita of scalp, Broad thumb	ORPHA:60015
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Numerous nevi, Deep philtrum, Pectus carinatum, Hyperhid...	OMIM:115150
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Long thorax...	OMIM:619142
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Ectopic kidney, Proximal placement of thumb, Synophr...	OMIM:122470
Rahman Syndrome	Telecanthus, Redundant skin, Talipes equinovarus, Camptodactyly, High anterior hairline	OMIM:617537
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib...	OMIM:223800
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Cerebrofaciothoracic Dysplasia	Epicanthus, Cleft upper lip, Synophrys, Rib fusion, Cleft palate, Broad philtrum, Wide mouth, Nar...	ORPHA:1394
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Tapered finger, Sparse eyebrow, Long palpebral fissure, Clinodactyl...	OMIM:618829
Van Maldergem Syndrome 1	Short fourth metatarsal, Epicanthus, Hypospadias, Abnormal foot morphology, Renal hypoplasia, Cut...	OMIM:601390
Spastic Paraplegia 55, Autosomal Recessive	Talipes equinovarus	OMIM:615035
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Coxa valga, Abnormal diaphysis morphology, Overtubulated long bo...	ORPHA:85184
Phaver Syndrome	Broad hallux phalanx, Epicanthus, Camptodactyly of finger, Short thumb, Abnormal rib morphology, ...	ORPHA:2876
Mucopolysaccharidosis, Type X	Aortic regurgitation, Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open ...	OMIM:619698
49,Xxxxy Syndrome	Pes planus, Hypoplasia of penis, Epicanthus, Down-sloping shoulders, Renal hypoplasia/aplasia, El...	ORPHA:96264
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
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Abnormal eyelid m...	ORPHA:1812
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration...	OMIM:232200
Kbg Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Epispadias, Synophrys, Widely-spaced...	OMIM:148050
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Hypospadias, Ventricular septal defect, Short ...	ORPHA:2438
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Epicanthus, Short hallux, Coxa valga, Curly eyelashes, W...	ORPHA:1517
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Small hand, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Short palm	ORPHA:85172
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow ch...	ORPHA:175
Schimke Immuno-Osseous Dysplasia	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	ORPHA:1830
Pseudodiastrophic Dysplasia	Elbow dislocation, Talipes equinovarus, Rhizomelia, Phalangeal dislocation	ORPHA:85174
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Hypospadias, Short stature, Aganglionic megacolon, Sparse eyebrow, Cleft palat...	ORPHA:66629
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Arthrogryposis, Distal, Type 5D	Ptosis, Tongue atrophy, Congenital hip dislocation, Short stature, Limited elbow movement, Highly...	OMIM:615065
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Rauch-Steindl Syndrome	Epicanthus, Telecanthus, Short stature, Sacral dimple, Highly arched eyebrow, Postnatal growth re...	OMIM:619695
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Dry hair, Unilateral renal agenesis, Renal ...	ORPHA:90324
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Telecanthus, Palpebral edema, Patent ductus arteriosus, Oligosacchariduria, Talipes equinovarus, ...	ORPHA:397709
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Abnormal renal physiology	OMIM:223900
Microphthalmia, Lenz Type	Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, A...	ORPHA:568
Congenital Disorder Of Glycosylation, Type Iih	Epicanthus, Finger clinodactyly, Talipes equinovarus, Clinodactyly of the 3rd toe, Bilateral coxa...	OMIM:611182
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr...	OMIM:617303
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact...	ORPHA:3103
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Optic nerve hypoplasia, Renal hypoplasia, Genu valgum, Micropenis	OMIM:619321
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome...	ORPHA:93929
Alkuraya-Kucinskas Syndrome	Overlapping toe, Abnormal foot morphology, Micropenis, Cutaneous syndactyly, Upslanted palpebral ...	OMIM:617822
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac...	OMIM:619148
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney...	ORPHA:887
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Nephropathy, Proteinuria	ORPHA:247691
2Q31.1 Microdeletion Syndrome	Deep philtrum, Abnormal tibia morphology, Synophrys, Downturned corners of mouth, Short palm, Cli...	ORPHA:251014
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Upslanted palpebral fissure, Widely spaced teeth, Clinodactyly	OMIM:619092
Tetraploidy	Renal hypoplasia/aplasia, Preauricular skin tag, Radial club hand, Cleft palate, Short philtrum, ...	ORPHA:3305
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T...	OMIM:211960
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, Elbow flexion contract...	ORPHA:1145
Myopathic Ehlers-Danlos Syndrome	Pes planus, Foot joint contracture, Shoulder flexion contracture, Ankle flexion contracture, Tape...	ORPHA:536516
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Syndactyly, Short stature, Pallor	OMIM:615631
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Hamartoma of ...	OMIM:269860
Pelger-Huet Anomaly	Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd...	OMIM:169400
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d...	OMIM:614922
Charcot-Marie-Tooth Disease, Type 4B3	Pes planus, Syndactyly, Distal lower limb muscle weakness, Urinary incontinence	OMIM:615284
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Hip dislocation, Talipes equinovarus	OMIM:616756
Hamamy Syndrome	High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tapered finger, Sparse eyebrow...	OMIM:611174
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Renal dysplasia, Low posterior hairline, Ectopic kidney	ORPHA:2578
48,Xxxy Syndrome	Pes planus, Hypoplasia of penis, Epicanthus, Down-sloping shoulders, Coxa valga, Elbow dislocatio...	ORPHA:96263
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Advanced ossificati...	OMIM:224400
49,Xxxyy Syndrome	Epicanthus, Finger clinodactyly, Bilateral talipes equinovarus, Micropenis, Abnormal plantar derm...	ORPHA:261534
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Vesicoureteral reflux, Cli...	OMIM:616580
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Femoral bowing, Stillbirth, Talipes equinovarus, Cystic renal dysplasia, Enlarged ...	OMIM:615415
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly	OMIM:604757
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Almond-shaped palpebral fissure, Epiblepharon, Submucous cleft hard palate, Thick lo...	OMIM:619103
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Hypospadias, Overlapping toe, Metatarsus adductus, Short thumb, Abnormal finger m...	ORPHA:436003
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Epicanthus, Telecanthus, Short stature, Redundant skin, Frontal open bite, Postnatal growth retar...	OMIM:225410
Meckel Syndrome, Type 6	Occipital encephalocele, Postaxial hand polydactyly, Anencephaly, Renal cyst, Horseshoe kidney, P...	OMIM:612284
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Epicanthus, Exaggerated cupid's bow, Cleft palate, Downturned corne...	OMIM:614230
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ap...	ORPHA:2538
Tukel Syndrome	Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap...	OMIM:609428
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero...	OMIM:242900
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus	OMIM:601382
Mosaic Trisomy 8	Camptodactyly of finger, Patellar aplasia, Abnormal rib morphology, Vesicoureteral reflux, Cleft ...	ORPHA:96061
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney diseas...	OMIM:208500
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Broad eyebrow, Smooth philtrum, Ulnar deviation of the hand, Proxi...	OMIM:620113
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Freeman-Sheldon Syndrome	Camptodactyly of finger, Ulnar deviation of finger, Talipes equinovarus, Downslanted palpebral fi...	ORPHA:2053
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Epicanthus, Congenital hip dislocation, Absent nipple, Cubitus valgus, Patent ductus ...	OMIM:104350
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Hypospadias, Single transverse palmar crease, 2-3 toe syndactyly, Sparse hair, Microp...	OMIM:616449
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformity, Low ante...	OMIM:609128
Lambotte Syndrome	Preaxial foot polydactyly, Telecanthus, Narrow mouth	OMIM:245552
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Flexion contracture of finger, Bilateral talipes equinovarus, Hand clenching, Congenital knee dis...	ORPHA:319332
Temtamy Syndrome	Pes planus, Highly arched eyebrow, Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphth...	OMIM:218340
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Tetralogy of Fallo...	OMIM:612561
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Cleft hard pal...	OMIM:300990
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Talipes equinovarus	OMIM:611067
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Calcaneovalgus deformity, High palate, Micropenis, Arachnodactyly, Short sta...	OMIM:612513
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Femoral bowing, Tibial bowing, Hyperhidrosis, Smooth tongue, Sho...	OMIM:601559
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Dental crowding...	OMIM:101600
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Tarp Syndrome	Finger syndactyly, Thick eyebrow, Rocker bottom foot, Postaxial polydactyly, Single transverse pa...	ORPHA:2886
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C...	OMIM:601680
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra...	OMIM:210720
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, High, narrow palate, Downturned corners of mouth, Clinodactyly of the 5th finger...	ORPHA:96182
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Talipes equinovarus, Upper limb amyotrophy, Knee flexion...	ORPHA:496689
Achondrogenesis Type 1A	Multiple rib fractures, Micromelia, Short thorax, Short foot, Narrow chest, Short palm, Long phil...	ORPHA:93299
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short metatarsal, Renal cyst, Nephronophthisis, Clinodactyly of the 5th fin...	OMIM:266920
Charge Syndrome	Ptosis, Epicanthus, Anophthalmia, Talipes, Highly arched eyebrow, Patent ductus arteriosus, Abnor...	ORPHA:138
Charcot-Marie-Tooth Disease Type 4A	Limited interphalangeal movement, Hand muscle weakness, Limited wrist movement, Abnormal foot mor...	ORPHA:99948
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Intellectual Developmental Disorder, Autosomal Dominant 58	Few cafe-au-lait spots, Dental crowding, Single transverse palmar crease, Protruding tongue, Subm...	OMIM:618106
Becker Nevus Syndrome	Hypermelanotic macule, Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper...	ORPHA:64755
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Fanconi Anemia, Complementation Group S	Epicanthus, Proximal placement of thumb, Blepharophimosis, Low anterior hairline, Upslanted palpe...	OMIM:617883
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Anemic pallor, Ectopic kidney, Absent thumb, Short ...	OMIM:227650
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, S...	ORPHA:1433
Kabuki Syndrome 2	Natal tooth, Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Lowe...	OMIM:300867
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Postaxial polydactyly, High...	OMIM:618460
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, High, narrow palate, Abnormality of the gingiva, Epispadias, Nae...	ORPHA:3107
Occipital Horn Syndrome	Redundant skin, Pectus carinatum, High palate, Narrow chest, Broad ribs, Pelvic bone exostoses, H...	OMIM:304150
Giant Axonal Neuropathy	Abnormal hand morphology, Genu valgum, Talipes equinovarus, Woolly hair, Pes cavus, Abnormality o...	ORPHA:643
Bruck Syndrome 2	Elbow flexion contracture, Knee flexion contracture, Femoral bowing, Talipes equinovarus, Hydroxy...	OMIM:609220
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Small hand, Antecubital pterygium, Ankyloblepharon, Popliteal pt...	OMIM:619339
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Cleft palate, Intrauterine growth retardation, Downslanted palpebral fis...	OMIM:220210
Charcot-Marie-Tooth Disease, Type 4B2	Split hand, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus	OMIM:604563
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Brachydactyly, Short foot, Talipes calcaneovarus, Large hands, Patchy alopecia, Upslanted palpebr...	OMIM:300534
15q26 overgrowth syndrome	Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Tapered finger, Camptodactyl...	DECIPHER:81
Arthrogryposis Multiplex Congenita 5	Ptosis, Rocker bottom foot, Hip dislocation, Elbow flexion contracture, Upslanted palpebral fissu...	OMIM:618947
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Anemic pallor, Ectopic kidney, Absent thumb, Short ...	OMIM:600901
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of the knee, Broad hallux, Slender finger, Dacryocystitis, Small hand, Tibial bowing,...	ORPHA:251028
Koolen-De Vries Syndrome	Ureteral duplication, High, narrow palate, Vesicoureteral reflux, Microdontia, Renal duplication,...	ORPHA:96169
Chronic Graft Versus Host Disease	Phimosis, Urinary bladder inflammation, Esophageal stricture, Erythema, Xerostomia, Intermittent ...	ORPHA:99921
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Hypoplasia of penis, Absent eyelashes, Abnormal hair morphology...	ORPHA:861
Filippi Syndrome	Finger syndactyly, Enlarged epiphyses, Severe short stature, Short stature, Growth delay, Thin ve...	ORPHA:3255
Bardet-Biedl Syndrome 3	Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Ptosis, Short stature, Camptodactyly of finger, Narrow palate, Abnormal hip bo...	ORPHA:1323
Bardet-Biedl Syndrome 8	Hypospadias, Renal dysplasia, Postaxial polydactyly	OMIM:615985
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital finger flexion con...	ORPHA:1154
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Irregular capital femoral ep...	OMIM:616716
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Widened atrophic scar, Redundant skin, Equinus calcaneus, Shoulder dislocatio...	ORPHA:536532
Joubert Syndrome 27	Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly	OMIM:617120
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Waardenburg Syndrome Type 3	Telecanthus, Tented upper lip vermilion, Camptodactyly of finger, Abnormal finger morphology, Cut...	ORPHA:896
Warsaw Breakage Syndrome	Epicanthus, Single transverse palmar crease, Hypermelanotic macule, Postnatal growth retardation,...	OMIM:613398
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Epicanthus, Proteinuria, Hypoplasia of the iris...	OMIM:251300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Epicanthus, Ectopic kidney, Small hand, Hirsutism, Horseshoe kidney, Short foot, Join...	OMIM:235510
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Synophrys, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Acromesomelic Dysplasia 4	Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Genu varum, Short metac...	OMIM:619636
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra...	OMIM:613426
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Epicanthus, Telecanthus, Hypermelanotic macule, Abnormality of the dentition, Broad p...	OMIM:618505
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Atrial septal defect, Brachydactyly, Mesoaxial foot polydactyly, Overlappi...	OMIM:612474
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney, Radial dysplasia, Absent thumb	OMIM:617244
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Long eyelashes, Short stature, Thick eyebrow	ORPHA:1514
Congenital Disorder Of Glycosylation, Type Id	Epicanthus, Long fingers, Talipes equinovarus, Small nail, Nail dysplasia, Clinodactyly, Joint co...	OMIM:601110
Acrocraniofacial Dysostosis	Preauricular pit, Ptosis, Telecanthus, Short stature, Tapered finger, Coxa valga, Cleft palate, U...	ORPHA:949
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Abnormal...	ORPHA:582
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Epicanthus, Long foot, Abnormal thumb morphology...	ORPHA:500095
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Hypoplasia of the primary teeth, Short stature, 4-5 finger syndactyly, Hypoplasi...	OMIM:257850
Mend Syndrome	Crossed fused renal ectopia, Redundant neck skin, Broad hallux, Overlapping toe, Sacral dimple, L...	OMIM:300960
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Short stature, Intestinal malrotation, Hypospadias, Postn...	ORPHA:7
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Highly ...	ORPHA:505237
Joubert Syndrome 24	Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus	OMIM:616654
Hajdu-Cheney Syndrome	Thick eyebrow, Epicanthus, Hypospadias, Short nail, Telecanthus, Patent ductus arteriosus, Synoph...	OMIM:102500
Hallermann-Streiff Syndrome	Selective tooth agenesis, High, narrow palate, Metaphyseal widening, High palate, Sparse eyebrow,...	OMIM:234100
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Arthrogryposis, Distal, Type 5	Epicanthus, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Blepharophimosis, ...	OMIM:108145
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Synophrys, Ab...	ORPHA:2463
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Schwartz-Jampel Syndrome	Micromelia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Pursed lips, Sup...	ORPHA:800
Hydrolethalus	Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft, Cleft palate...	ORPHA:2189
Glycogen Storage Disease Ib	Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration...	OMIM:232220
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand poly...	OMIM:617088
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves...	ORPHA:2237
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, T...	ORPHA:163966
Radio-Renal Syndrome	Multicystic kidney dysplasia, Micromelia, High, narrow palate, Hypoplasia of the radius, Abnormal...	ORPHA:3015
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Telecanthus, Arachnodactyly, Bilateral talipes equinovarus, Talipes equinovarus, Camptodactyly, D...	OMIM:615539
Multiple Pterygium Syndrome, Lethal Type	Epicanthus, Multiple pterygia, Cleft palate, Thin ribs, Short finger	OMIM:253290
Cntnap2-Related Developmental And Epileptic Encephalopathy	Downslanted palpebral fissures, Preaxial polydactyly	ORPHA:163681
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, 1-4 toe syndactyly, 4-5 fing...	OMIM:617201
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Patent ductus arteriosus, Unilateral renal agenesis	OMIM:620024
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abno...	ORPHA:107
Treacher Collins Syndrome 1	Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Upper eyelid coloboma, Cleft p...	OMIM:154500
Ring Chromosome 21 Syndrome	Syndactyly, Short stature, Small hand, Narrow palm, Multiple cafe-au-lait spots, Clinodactyly	ORPHA:1445
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Duplication of thumb phalan...	OMIM:601707
Fanconi Anemia, Complementation Group D2	Anemic pallor, Ectopic kidney, Aplasia of the 1st metacarpal, Micropenis, Pelvic kidney, Renal du...	OMIM:227646
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro...	OMIM:151210
Congenital Myopathy 20	Scapular winging, Ulnar deviation of the hand, Epicanthus, Toe joint contracture, Hip dislocation...	OMIM:620310
Cofs Syndrome	Talipes, Microphthalmia, Camptodactyly of finger	ORPHA:1466
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Short stature, Synophrys, Thick lower lip vermilion, Cutaneous finger syndactyly, Blepharophimosi...	OMIM:210745
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Talipes equinovarus	OMIM:613710
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Kapur-Toriello Syndrome	Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Paten...	OMIM:244300
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Beaded ribs, Pectus excavatum, Pectus carinatum, Dentinogenesis imperfecta	OMIM:259440
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ...	OMIM:602200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Bladder dive...	OMIM:617821
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bilateral single transverse palmar creases, Proximal placement of thumb,...	ORPHA:1120
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm...	ORPHA:2911
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Hypospadias, Blepharophimosis, Hip dysplasia, Vesicoureteral reflux, Microphthalmia, ...	ORPHA:494344
Chime Syndrome	Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clavicle, Supernume...	ORPHA:3474
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Diamond-Blackfan Anemia	Epicanthus, Hypospadias, Cleft soft palate, Absent thumb, Short thumb, Partial duplication of thu...	ORPHA:124
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Smooth philtrum, Renal dysplasia, Sacral dimple, Short stature, Postaxial polydactyly, Abnormalit...	OMIM:300968
Monosomy 9P	Epicanthus, Hypospadias, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the t...	ORPHA:261112
Developmental Delay With Or Without Dysmorphic Facies And Autism	Epicanthus, Highly arched eyebrow, Supernumerary nipple, Patent ductus arteriosus, 2-3 toe cutane...	OMIM:618454
Scarf Syndrome	Epicanthus, Pectus carinatum, Perineal hypospadias, Cutis laxa, Short sternum, Hypocalcification ...	ORPHA:3134
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Selective tooth agenesis, Sparse eyelashes, Cleft upper lip, Conical tooth, Absent e...	OMIM:106260
Ring Chromosome 10 Syndrome	Sandal gap, Tapered finger, Renal hypoplasia/aplasia, Microphthalmia, Downslanted palpebral fissures	ORPHA:1438
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Preauricular pit, Thin upper lip vermilion, Ptosis, Epicanthus, Short stature, Intestinal malrota...	ORPHA:457193
Cockayne Syndrome	Urinary incontinence, Abnormal dental morphology, Renal hypoplasia, Agenesis of permanent teeth, ...	ORPHA:191
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia	OMIM:211890
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Epicanthus, Renal agenesis, Anemic pallor, Ectopic kidney, Absent t...	OMIM:227645
Kleefstra Syndrome 1	Hypospadias, Single transverse palmar crease, Synophrys, Abnormal renal morphology, Upslanted pal...	OMIM:610253
Neuromuscular Oculoauditory Syndrome	Epicanthus, Knee flexion contracture, Calf muscle hypertrophy, Multiple renal cysts, Talipes equi...	OMIM:618733
Ogden Syndrome	Microretrognathia, Global glomerulosclerosis, Atrial septal defect, Congenital hip dislocation, S...	OMIM:300855
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Urinary incontinence, Rocker bottom foot, Achilles...	OMIM:301041
Spastic Paraplegia 47, Autosomal Recessive	Pes planus, Acetabular dysplasia, Genu recurvatum, Talipes equinovarus	OMIM:614066
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Epicanthus, Single transverse palmar crease, Bilateral ptosis, En...	OMIM:619743
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger	OMIM:609813
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Prolonged bleeding time, Rhi...	OMIM:616229
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Pes planus, Epicanthus, Long foot, Bowing of the legs, Long hallux, Renal cyst...	OMIM:617107
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Epicanthus, Camptodactyly of finger, Abnormal metacarpal ...	ORPHA:284160
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue,...	ORPHA:989
9Q33.3Q34.11 Microdeletion Syndrome	Telecanthus, Single transverse palmar crease, Abnormality of the kidney, Highly arched eyebrow, A...	ORPHA:495818
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Talipes calcaneovalgus	OMIM:600251
Axial Osteomalacia	Renal cyst	OMIM:109130
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate, Flaring of r...	OMIM:271640
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Pes planus, Epicanthus, Single transverse palmar crease, Supernumerary nipple, Sparse eyebrow, Sy...	OMIM:620098
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3 finger syndact...	OMIM:603467
Melnick-Needles Syndrome	Short humerus, Pes planus, Ureteral stenosis, Hypoplastic scapulae, Coxa valga, Flared metaphysis...	OMIM:309350
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Ante...	ORPHA:1488
Restrictive Dermopathy 1	Ureteral duplication, Overtubulated long bones, Scaling skin, Hypospadias, Absent eyelashes, Spar...	OMIM:275210
Cerebrofacioarticular Syndrome	Syndactyly, Epicanthus, Hypospadias, Renal hypoplasia, Talipes equinovarus, Camptodactyly, Blepha...	ORPHA:314679
Chromosome 18Q Deletion Syndrome	Pes planus, Epicanthus, Toe syndactyly, Hypospadias, Rocker bottom foot, Proximal placement of th...	OMIM:601808
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Ptosis, Telecanthus, Tented upper lip vermilion, Deep philtrum, Polydactyly, High palate, Downsla...	ORPHA:314655
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Aplasia/Hypoplasia of the skin, ...	ORPHA:1556
Meier-Gorlin Syndrome 5	Elbow dislocation, Irregular femoral epiphysis, Submucous cleft hard palate, Patellar aplasia, Mi...	OMIM:613805
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Sacral dimple, Single transverse...	OMIM:247200
Oculoectodermal Syndrome	Epicanthus, Supernumerary nipple, Lower limb asymmetry, Patent ductus arteriosus, Eyelid coloboma...	OMIM:600268
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Talipes equinovarus	OMIM:614399
Pontocerebellar Hypoplasia, Type 12	Talipes equinovarus, Overlapping fingers, Rocker bottom foot	OMIM:618266
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Overlapping ...	OMIM:618316
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Rhizomelia, Mi...	OMIM:613848
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly...	OMIM:615989
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Downturned corners of mouth, Short philtrum, Aplasia cutis congenita of ...	ORPHA:280
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Chand Syndrome	Short fifth metatarsal, Hydroureter, Ankyloblepharon, Cleft palate, Hypohidrosis, Dry skin, Agene...	ORPHA:1401
Monosomy 9Q22.3	Delayed eruption of teeth, Epicanthus, Odontogenic keratocysts of the jaw, Pectus excavatum, Palm...	ORPHA:77301
Tyrosinemia, Type I	Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid...	OMIM:276700
Renal Hypodysplasia/Aplasia 1	Talipes equinovarus, Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Phelan-Mcdermid Syndrome	Epicanthus, Palpebral edema, Abnormality of the kidney, Hypoplastic toenails, Patent ductus arter...	OMIM:606232
Lethal Congenital Contracture Syndrome 11	Flexion contracture of finger, Elbow flexion contracture, Camptodactyly, Bilateral talipes equino...	OMIM:617194
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Carious teeth, Elbow dislocation, Abnormal rib morphology, Bifid...	ORPHA:2769
Distal Triplication 15Q	Telecanthus, Arachnodactyly, Abnormality of the kidney, Patent ductus arteriosus, Dilatation of t...	ORPHA:314588
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Anteriorly placed anus, Cutaneous finger syndactyly, Bro...	OMIM:151050
Myasthenic Syndrome, Congenital, 24, Presynaptic	Abnormal foot morphology, Knee flexion contracture, Talipes equinovarus, Camptodactyly, Ptosis	OMIM:618198
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Oculodentodigital Dysplasia	Neurogenic bladder, Dry hair, Slow-growing hair, Epicanthus, Blepharophimosis, Cubitus valgus, 4-...	OMIM:164200
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Orofacial cleft, High palate, Short phil...	ORPHA:221120
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	Abnormal finger morphology, Bilateral talipes equinovarus	ORPHA:2560
Weill-Marchesani Syndrome 2	Short metatarsal, High palate, Shallow orbits, Broad ribs, Broad metacarpals, Short metacarpal, L...	OMIM:608328
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal agenesis, Single transverse palmar crease, Proximal plac...	OMIM:229850
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Highly arched eyebrow, Supernumerary nippl...	ORPHA:261494
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Telecanthus, Hydroureter, Toe syndactyly, Single transverse palmar cre...	OMIM:300707
Warburg Micro Syndrome 3	Blepharophimosis, Low anterior hairline, Ankle clonus, Clinodactyly of the 5th finger, Microphtha...	OMIM:614222
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Po...	OMIM:619879
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, ...	ORPHA:1512
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Ulnar deviation of the hand, Hypospadias, Single transverse palmar crease, Rocker bot...	OMIM:214100
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Postaxial hand polydactyly, Downslanted palpebral fiss...	ORPHA:2075
Native American Myopathy	Bilateral ptosis, Cleft palate, Downturned corners of mouth, High palate, Talipes equinovarus, Ca...	ORPHA:168572
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Thin upper lip vermilion, Finger syndactyly, Dental crowding, Hypospadias, Single transverse palm...	ORPHA:435938
Slc35A2-Cdg	Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal renal...	ORPHA:356961
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Talipes, Abnor...	ORPHA:974
Barber-Say Syndrome	Redundant skin, High palate, Widely spaced teeth, Clinodactyly of the 5th finger, Sparse eyebrow,...	OMIM:209885
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulop...	OMIM:231680
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Elbow flexion contracture, Knee flexion contracture, Second metat...	OMIM:214150
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	OMIM:600001
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, ...	OMIM:264480
Ohdo Syndrome, X-Linked	Epicanthus, Ulnar deviation of the hand, Overlapping toe, Sparse eyebrow, Short thumb, Long thumb...	OMIM:300895
Charcot-Marie-Tooth Disease Type 4G	Abnormality of the hand, Abnormal foot morphology, Upper limb amyotrophy, Distal upper limb muscl...	ORPHA:99953
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Stickler Syndrome, Type I	Arachnodactyly, Pectus excavatum, Irregular femoral epiphysis, Submucous cleft hard palate, Pierr...	OMIM:108300
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria,...	OMIM:615398
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Broad lateral eyebrow, Epicanthus, Arachnodactyly, Proportionate short stature, Absent thumb, Uni...	ORPHA:500150
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus	OMIM:617255
Skin Creases, Congenital Symmetric Circumferential, 2	Pes planus, Epicanthus, Hypospadias, Tapered finger, Blepharophimosis, Long fingers, Synophrys, L...	OMIM:616734
Nanophthalmos	Microphthalmia	ORPHA:35612
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hai...	OMIM:234050
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Broad ribs, Bi...	OMIM:300373
Adams-Oliver Syndrome 2	Alopecia, Single transverse palmar crease, Low anterior hairline, Narrow palpebral fissure, Absen...	OMIM:614219
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypoplasia, Abnormal pelv...	ORPHA:1788
Restrictive Dermopathy	Ureteral duplication, Scaling skin, Hypospadias, Sparse eyebrow, Sparse or absent eyelashes, Narr...	ORPHA:1662
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Epicanthus, Short femur, Rhizomelia, Hypospadias, Sandal gap, Patent ductus arteri...	OMIM:607143
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Epicanthus, Tricuspid regurgitation, Cleft soft palate, Cutis laxa, Bladder diverticulum, Mitral ...	OMIM:614557
Bnar Syndrome	Anal stenosis, Abnormal fifth toe morphology, Renal agenesis, Short lingual frenulum, Anteriorly ...	ORPHA:217266
Shprintzen-Goldberg Craniosynostosis Syndrome	Ptosis, Telecanthus, Arachnodactyly, Lateral clavicle hook, Pectus excavatum, Metaphyseal widenin...	OMIM:182212
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand muscle weakness, Split ha...	ORPHA:101097
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Overlapping toe, Down-sloping shoulders, Highly arched eyebrow, Tapered finger, Long eyelashes, T...	OMIM:617452
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Mucopolysaccharidosis, Type Ivb	Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Grayish enamel...	OMIM:253010
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, Ap...	OMIM:194190
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pes planus, Telecanthus, Broad hallux, Tapered finger, Short thumb, Low anterior hairline, Upslan...	OMIM:620224
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Anteriorly placed anus, High palate,...	ORPHA:1225
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol...	OMIM:616629
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Abnormal foot morphology, Postaxial hand polydactyly, Renal c...	OMIM:608091
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Finger syndactyly, Sh...	ORPHA:93932
Lacrimoauriculodentodigital Syndrome	Xerostomia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary gland morpholo...	ORPHA:2363
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Ptosis, Epicanthus, Shoulder flexion contracture,...	OMIM:193700
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Heart block, Anteriorly placed anus, High palate, Vesicou...	OMIM:617063
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Pectus carinatum, Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hypoplasia of the tarsa...	OMIM:276820
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Abnormal shoulder morphology, Abnormal...	ORPHA:2115
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Nail dystrophy, Highly arched eyebrow	OMIM:300887
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Short stature, Synophrys, Cleft palate, Short philtrum, Cubitus valgus, Thick eye...	ORPHA:247768
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Abnormal palmar dermatoglyphics, Multiple bladder diverticula, Blepharophimosis, Mic...	ORPHA:2728
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Arachnodactyly, Chronic kidney disease, L...	ORPHA:261222
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Epicanthus, Congenital hip dislocation, Arachnodactyly, Protrusio ac...	OMIM:225400
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Epicanthus, Sandal gap, Hypospadias, Synophrys, Cleft palate...	ORPHA:254346
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Kagami-Ogata Syndrome	Long clavicles, Coxa valga, Long fingers, Thin ribs, Bell-shaped thorax, Limb undergrowth, Pulmon...	OMIM:608149
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro...	ORPHA:2753
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Abnormally large globe, Knee dislocation, Shoulder dislocation, Dislocated radial head, Rhizomeli...	OMIM:245600
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Epicanthus, Hypospadias, Blepharophimosis, Patent ductus arteriosus, Widow's peak, Re...	OMIM:616975
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Abnormality of the el...	ORPHA:1005
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Intellectual Developmental Disorder, Autosomal Dominant 51	Long toe, Epicanthus, Talipes equinovarus, Long foot, Sparse lateral eyebrow	OMIM:617788
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Hypospadias, Lower limb asymmetry, Upper limb asymmetry, Umbilical hernia, Microphtha...	ORPHA:2505
Acrofacial Dysostosis Syndrome Of Rodriguez	Deep-set nails, Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equ...	OMIM:201170
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Abnormal rib morphology, Micromelia	ORPHA:2772
Periventricular Nodular Heterotopia 1	Clinodactyly, Syndactyly, Patent ductus arteriosus, Short finger	OMIM:300049
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Diaphyseal sclerosis	OMIM:122860
Gracile Bone Dysplasia	Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Ankyloglossia, Brachydactyly	OMIM:602361
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Split hand, Talipes equinovarus	OMIM:607831
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Ulnar claw, Hammertoe, Pes cavus, Talipes equinovarus	OMIM:608340
Joubert Syndrome 1	Epicanthus, Highly arched eyebrow, Postaxial hand polydactyly, Renal cyst, Occipital myelomeningo...	OMIM:213300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Congenital Disorder Of Glycosylation, Type Il	Hip dislocation, Polycystic kidney dysplasia	OMIM:608776
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Abnormality of the subungual region, Clubbing of fingers, Microphthalmi...	ORPHA:335
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Epicanthus, Severe short stature, Arachnodactyly, Rhizom...	ORPHA:3379
3Mc Syndrome 2	Ptosis, Hypospadias, Limited elbow movement, Cleft upper lip, Postnatal growth retardation, Highl...	OMIM:265050
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Ptosis, Epicanthus, Renal h...	ORPHA:264200
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Cleft palate, Upslanted palpebral fissure, Thick vermilion border, T...	ORPHA:250999
Grange Syndrome	Syndactyly, Patent ductus arteriosus, Short palm	ORPHA:79094
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia	ORPHA:2470
Adult Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Naso...	ORPHA:978
Wiedemann-Steiner Syndrome	Synophrys, High palate, Clinodactyly of the 5th finger, Dilatation of renal calices, Rhizomelia, ...	ORPHA:319182
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Squared iliac bones, Hypoplastic pubic bone, ...	OMIM:258480
Mucolipidosis Ii Alpha/Beta	Brittle hair, Metaphyseal widening, Sparse hair, Sparse eyebrow, Split hand, Flat acetabular roof...	OMIM:252500
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Tapered finger, Upslanted palpebral fissure, T...	OMIM:618580
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognathia, Contracture of th...	ORPHA:83617
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Prominent floating ribs, Malabsorption	OMIM:152800
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Cdags Syndrome	Ectropion, Sparse eyelashes, Hypospadias, Rectourethral fistula, Sparse eyebrow, Cleft palate, Re...	OMIM:603116
Dubowitz Syndrome	Single transverse palmar crease, High palate, Clinodactyly of the 5th finger, Syndactyly, Short s...	OMIM:223370
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Trisomy 10P	Thumb contracture, Epicanthus, Abnormality of the kidney, Abnormality of the hand, Abnormal foot ...	ORPHA:171929
Developmental And Epileptic Encephalopathy 91	Talipes equinovarus, Single transverse palmar crease	OMIM:617711
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Short stature, Cleft upper lip, Cleft palate, Micropenis, Tooth agenesis, Ectrodactyly, Delayed p...	OMIM:147950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long toe, Tapered toe, Long-chain dic...	OMIM:608836
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Elbow dislocation, ...	ORPHA:2554
3Q29 Microdeletion Syndrome	Hypospadias, Tapered finger, Patent ductus arteriosus, Horseshoe kidney, Clinodactyly of the 5th ...	ORPHA:65286
Congenital Myopathy 24	Scapular winging, Pes cavus, Talipes equinovarus	OMIM:617336
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hypoplasia of penis, High,...	ORPHA:373
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly o...	OMIM:619721
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Prema...	ORPHA:1942
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Epicanthus, Postaxial polydactyly, Synophrys, Proximal renal tubular acidosis, Upslanted palpebra...	OMIM:615824
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer...	OMIM:232240
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Severe short stature, Telecanthus, Proximal placement of thumb, Sparse e...	OMIM:615789
Trisomy 18	Epicanthus, Camptodactyly of finger, Esophageal atresia, Postaxial hand polydactyly, Non-midline ...	ORPHA:3380
Frontofacionasal Dysplasia	Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs...	OMIM:229400
Mucopolysaccharidosis, Type Vii	Thick eyebrow, Epicanthus, Heparan sulfate excretion in urine, Metatarsus adductus, Hirsutism, De...	OMIM:253220
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Submucous cleft hard palate, Epiphyseal stippling, Abnormal pelvic gir...	OMIM:222765
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Mucopolysaccharidosis, Type Iva	Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Grayish enamel...	OMIM:253000
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Long eyelashes, Camptodactyly of finger	ORPHA:48431
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala...	OMIM:609465
Cole-Carpenter Syndrome 2	Pectus excavatum, Thin ribs, High palate, Narrow iliac wing, Downslanted palpebral fissures, Dent...	OMIM:616294
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal thorax morphology, Metaphyseal widening, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Talipes equinovarus, Ptosis	OMIM:619465
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin...	ORPHA:2636
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Tri...	OMIM:271665
Camptodactyly Syndrome, Guadalajara Type 3	Thick eyebrow, Telecanthus, Numerous nevi, Symblepharon, Abnormal rib morphology, Small hand, Sho...	ORPHA:488434
Scarf Syndrome	Barrel-shaped chest, Epicanthus, Pectus carinatum, Perineal hypospadias, Cutis laxa, Short sternu...	OMIM:312830
Myotubular Myopathy With Abnormal Genital Development	Hypospadias, Glandular hypospadias, Thin ribs, High palate, Micropenis, Penile hypospadias	OMIM:300219
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Single transverse palmar crease, Patent ductus arterio...	ORPHA:1596
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Ptosis	OMIM:619972
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Sparse eyebrow, Abnormal eyelash morphology, Widow's peak, Bilat...	ORPHA:2399
Acrofrontofacionasal Dysostosis 1	Ptosis, Short metacarpal, Long eyebrows, Cleft upper lip, Pectus excavatum, Cleft palate, Wide mo...	OMIM:201180
Warburg Micro Syndrome 4	Low anterior hairline, Microphthalmia, Micropenis, Hirsutism, Ptosis	OMIM:615663
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Urinary incontinence, Achilles tendon contracture, Elbow flexion co...	OMIM:617114
Kenny-Caffey Syndrome, Type 1	Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo...	OMIM:244460
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Hip contracture, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contracture, Knee f...	OMIM:616266
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Missing ribs, Abnormal rib morphology, Orofacial cleft, Aplasia/Hyp...	ORPHA:3301
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Skin nodule, Narrow philtrum, Palmoplantar hyperkeratos...	OMIM:601812
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Desmosterolosis	Epicanthus, Aplasia/Hypoplasia of the skin, Intestinal malrotation, Micromelia, Metatarsus adduct...	ORPHA:35107
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal rib morphology	ORPHA:280195
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Advanced eruption of teeth, Finger syndactyly, ...	ORPHA:818
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Intestinal malrotation	OMIM:601163
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Pes cavus	OMIM:278780
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum, ...	ORPHA:96334
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Thoracolumbar kyphosis, Narrow greater sciatic notch, Short phalanx of fi...	ORPHA:508533
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia ...	ORPHA:364577
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat...	OMIM:615349
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Supernumerary nipple, Sparse eyebrow, 3-4 finger cutaneous syndactyly, Upslanted palp...	OMIM:612530
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sacral dimple, Tapered toe, Sparse eyelashes, Tapered finger, Celiac disease, Abs...	ORPHA:544488
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Flexion contracture of finger, Bilateral talipes equinovarus, Talipes equinovarus, Adducted thumb	OMIM:618484
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Congenital hip dislocation, Sparse eyelashes, Sparse scalp hair, Epican...	OMIM:268400
Fanconi Anemia	Abnormal eyelid morphology, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5...	ORPHA:84
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,...	OMIM:620369
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Forearm undergrowt...	OMIM:251230
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Epicanthus, Tapered finger, Cleft lip, Synophrys, Limited elbow extension, Hip dislocation, Cleft...	OMIM:301066
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Autosomal Recessive Dopa-Responsive Dystonia	Pes cavus, Talipes equinovarus, Ptosis	ORPHA:101150
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Long palpebral fissure, Microphthalmia, Ptosis	OMIM:614583
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Epicanthus, Macrodontia, Abnormal dental enamel morphology, Short stature, Abnormality of the upp...	ORPHA:2916
Oliver Syndrome	Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental malocclusion, Elbow flexio...	ORPHA:2920
Weill-Marchesani Syndrome 1	Tooth malposition, Broad palm, Narrow palate, Mitral regurgitation, Pulmonic stenosis, Shallow or...	OMIM:277600
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Deep philtrum, Dental ...	OMIM:227330
Pontocerebellar Hypoplasia, Type 8	Synophrys, Long eyelashes, Talipes equinovarus, Talipes valgus, Pes cavus, Thick eyebrow, Hypertr...	OMIM:614961
Rhombencephalosynapsis	Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Tracheoe...	ORPHA:59315
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Overlapping toe, Single transverse palmar crease, Tapered finger, Upslanted palpebral fissure, Hi...	OMIM:617807
Cat Eye Syndrome	Epicanthus, Renal agenesis, Absent radius, Patent ductus arteriosus, Horseshoe kidney, Downslante...	OMIM:115470
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Subcutaneous nodule, Anteriorly placed anus, Triphalangeal t...	ORPHA:857
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Clef...	ORPHA:158687
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Redundant neck skin, Proximal femoral metaphyseal irregularity, Early ossification of capital fem...	ORPHA:397715
Hurler Syndrome	Abnormal clavicle morphology, Angina pectoris, Camptodactyly of finger, Abnormality of the elbow,...	ORPHA:93473
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar deviation of t...	OMIM:618291
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hypermelanotic macule, Wide mouth, Hand polydactyly, Foot poly...	ORPHA:60040
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, Aplasia/Hypoplasia of the middle phalanx of the ...	ORPHA:96149
Wieacker-Wolff Syndrome	Proximal placement of thumb, Hip dislocation, High anterior hairline, Upslanted palpebral fissure...	OMIM:314580
Meier-Gorlin Syndrome 3	Hypospadias, Sparse axillary hair, Aplasia/Hypoplasia of the patella, Sparse pubic hair, Patellar...	OMIM:613803
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Talipes equinovarus, Camptodactyly, Blepharophimosis, Downslanted palpebral fissures, Ptosis	OMIM:617333
Feingold Syndrome Type 1	Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne...	ORPHA:391641
Contractural Arachnodactyly, Congenital	Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Patent ductus art...	OMIM:121050
Kabuki Syndrome	Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den...	ORPHA:2322
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Postaxial polydactyly, Postnatal growth retardation, Sparse eyebrow...	OMIM:605627
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Hypospadias, Overlapping toe, Abnormal hair whorl, Patent ductus arteriosu...	ORPHA:163956
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Abnormal rib morphology, Abnorm...	ORPHA:1666
Distal Deletion 3P	Preauricular pit, Epicanthus, Telecanthus, Short stature, Sacral dimple, Blepharophimosis, Postax...	ORPHA:1620
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Hip dislocation, Cutis laxa, Talipes equinovarus, Sparse hair, Umbili...	OMIM:219150
Giant Axonal Neuropathy 1, Autosomal Recessive	Pes planus, Curly hair, Areflexia of lower limbs, Talipes equinovarus, Hyporeflexia of lower limb...	OMIM:256850
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Sparse hair, Highly arched eyebrow, ...	OMIM:280000
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Camptodactyly	OMIM:264180
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Epicanthus, Short stature, Micromelia, Non-mi...	ORPHA:1908
Aspergillosis	Dacryocystitis, Localized skin lesion, Abnormal rib morphology, Abnormal long bone morphology, In...	ORPHA:1163
Campomelic Dysplasia	Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fibular hypoplasia, ...	ORPHA:140
Cleidocranial Dysplasia 1	Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Narrow chest...	OMIM:119600
Multiple Synostoses Syndrome 2	Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus, Carpal syn...	OMIM:610017
Myopathy, Centronuclear, 2	Scapular winging, Pes cavus, Talipes equinovarus, Ptosis	OMIM:255200
Rabson-Mendenhall Syndrome	Dental crowding, Short stature, Abnormality of the dentition, Long penis, Gingival overgrowth, Fu...	ORPHA:769
X Small Rings	Thin upper lip vermilion, Epicanthus, Toe syndactyly, Tapered finger, Fetal pyelectasis, 2-3 toe ...	ORPHA:96201
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Cleft soft palate, Highly arched eyebrow, Submucous cleft soft palate, Pulmonary art...	ORPHA:2282
Neuroocular Syndrome	Hyperextensibility of the finger joints, Synophrys, Downturned corners of mouth, Widely spaced te...	OMIM:619539
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Hip d...	OMIM:602471
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Monosomy 18P	Alopecia, Brachydactyly, Epicanthus, Low posterior hairline, Microphthalmia, Ptosis	ORPHA:1598
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
Warburg Micro Syndrome 2	Overlapping toe, Low anterior hairline, Microphthalmia, Micropenis, Clinodactyly of the 4th toe, ...	OMIM:614225
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Epicanthus, Renal cyst, Epiphyseal stippling	OMIM:601539
Nanophthalmos 4	Microphthalmia	OMIM:615972
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Short femoral neck...	OMIM:618019
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Hypospadias, Single transverse palmar crease, Palpebral edema, Metatarsus adductus, R...	OMIM:614866
8P11.2 Deletion Syndrome	Preauricular pit, Epicanthus, Hypoplasia of penis, Sacral dimple, Upslanted palpebral fissure, Hi...	ORPHA:251066
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Talipes equinovarus, Camptodactyly of finger, Urinary incontinence	OMIM:604320
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Alg12-Cdg	Epicanthus, Ulnar deviation of the wrist, Hypospadias, Sandal gap, Proximal placement of thumb, R...	ORPHA:79324
Culler-Jones Syndrome	Cleft upper lip, Postaxial polydactyly, Cleft palate, Micropenis	OMIM:615849
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Abnormal rib morphology, Abnormality of the humeroulnar joint	ORPHA:2234
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Sparse eyelashes, Flaring of lower r...	OMIM:250250
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Hyperpigmented nevi and streak	OMIM:149000
Split Cord Malformation	Urinary incontinence, Functional abnormality of the bladder, Renal duplication, Hypospadias, Tuft...	ORPHA:573278
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Thick lower lip vermilion, Genu valgum, Macroglossia, Mucopolysacchariduria...	ORPHA:583
Neurooculocardiogenitourinary Syndrome	Epicanthus, Redundant neck skin, Patent ductus arteriosus, Microphthalmia, Abnormality of the pal...	OMIM:618652
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Split hand, Megacystis, Nail pits...	OMIM:604292
Triploidy	Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Non-midline cleft li...	ORPHA:3376
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Patent ductus art...	ORPHA:1112
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long bones, Single transverse p...	OMIM:269150
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Atelosteogenesis, Type I	Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Encephalocele, Short metacarpa...	OMIM:108720
Turnpenny-Fry Syndrome	Numerous nevi, Dental crowding, Pectus carinatum, Prominent interphalangeal joints, Downturned co...	OMIM:618371
Microphthalmia, Syndromic 13	Microphthalmia, Ptosis	OMIM:300915
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Abnor...	ORPHA:79404
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Radial club hand, Patent duc...	OMIM:617053
Greenberg Dysplasia	Micromelia, Beaded ribs, Tetraphocomelia, Hypoplasia of the calcaneus, Narrow chest, Short phalan...	OMIM:215140
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Neuropathy, Congenital Hypomyelinating, 3	Epicanthus, Abnormal foot morphology, 2-3 toe syndactyly, Bilateral talipes equinovarus, Neonatal...	OMIM:618186
Aase-Smith Syndrome I	Cleft palate, Talipes equinovarus, Open mouth, Slender finger, Ptosis	OMIM:147800
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Blepharophimosis, Bilateral microphthalmos, Flared m...	OMIM:610758
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Spl...	OMIM:252600
Alagille Syndrome	Hypoplasia of the ulna, Telangiectasia of the skin, Abnormal rib morphology, Abnormality of the u...	ORPHA:52
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Shoulder muscle hypoplasia	OMIM:184400
Septooptic Dysplasia	Short stature, Polydactyly, Short finger	OMIM:182230
Degcags Syndrome	Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Pallor, ...	OMIM:619488
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Renal cyst, Narrow chest, Short palm, Urethrovaginal fistula, Cl...	ORPHA:93271
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Mandibuloacral Dysplasia Progeroid Syndrome	Palmoplantar hyperkeratosis, High palate, Short philtrum, Shallow orbits, Tricuspid regurgitation...	OMIM:619127
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Catel-Manzke Syndrome	Single transverse palmar crease, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the...	OMIM:616145
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Pectus carinatum, Postauricular pit, Narrow greater sciatic notch, Short palm, Preaur...	OMIM:312870
Bruck Syndrome 1	Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion contracture, Coxa ...	OMIM:259450
Phosphoribosylaminoimidazole Carboxylase Deficiency	Clinodactyly of the 5th finger, Coronal hypospadias, Talipes equinovarus, Neonatal death	OMIM:619859
Double Outlet Right Ventricle	Tachycardia, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Heart murmur, Nar...	ORPHA:3426
Ulbright-Hodes Syndrome	High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Humeroradial synostosis, Ab...	ORPHA:3404
Mullegama-Klein-Martinez Syndrome	Preauricular pit, Thin upper lip vermilion, Curly eyelashes, Cleft lip, Cleft palate, Submucous c...	OMIM:301022
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Hypospadias, Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Addu...	OMIM:618874
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hypoplastic pu...	ORPHA:1865
Parkinson Disease 15, Autosomal Recessive Early-Onset	Talipes equinovarus	OMIM:260300
Treacher Collins Syndrome 2	Preauricular pit, Downslanted palpebral fissures, Lower eyelid coloboma	OMIM:613717
Fumarase Deficiency	Elevated urine fumaric acid level, Aminoaciduria, Increased urine succinate level, Perimembranous...	OMIM:606812
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Epicanthus, Abnormality of the kidney, T...	ORPHA:847
Trichohepatoneurodevelopmental Syndrome	Synophrys, Coarse hair, Bilateral coxa valga, Clinodactyly of the 5th finger, Thoracic hypertrich...	OMIM:618268
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Postnatal growth retardation, Preaxial hand polydactyly, Chorde...	ORPHA:96179
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossification of carpa...	OMIM:618395
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, Clinodactyly, Hir...	OMIM:618087
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Anophthalmia, Congenital hip dislocation, Brittle hair, Osteop...	OMIM:305600
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Ptosis, Short stature, Bilater...	ORPHA:794
Hajdu-Cheney Syndrome	Synophrys, Low anterior hairline, Coarse hair, Generalized hirsutism, Partial absence of toe, Hyp...	ORPHA:955
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Bilateral single transverse palmar creases, Talipes...	ORPHA:1308
Dystonia, Dopa-Responsive	Pes cavus, Talipes equinovarus	OMIM:128230
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Renal hypoplasia, Aortic valve stenosis, Vesicoureteral reflux, Mitr...	OMIM:617660
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly, Downslanted palpebral fissures	OMIM:619981
Fetal Akinesia Deformation Sequence 1	Hip contracture, Telecanthus, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of f...	OMIM:208150
Mesomelia-Synostoses Syndrome	Telecanthus, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsa...	OMIM:600383
Nestor-Guillermo Progeria Syndrome	Sparse eyelashes, Dental crowding, Limited elbow movement, Sparse eyebrow, Dental malocclusion, T...	OMIM:614008
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Areflexia of lower limbs, Talipes equinovarus	OMIM:616155
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Tricuspid regurgitati...	OMIM:253200
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Abnormality of the philtrum, Micromelia, Abnormal eyelid...	ORPHA:2671
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Calf muscle hypertrophy, Talipes equinovarus	OMIM:616827
Joubert Syndrome 39	Occipital encephalocele, Postaxial polydactyly, Joint contracture of the 5th finger, Polycystic k...	OMIM:619562
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Meckel Syndrome, Type 1	Occipital encephalocele, Epicanthus inversus, Syndactyly, Patent ductus arteriosus, Postaxial foo...	OMIM:249000
Lethal Congenital Contracture Syndrome Type 1	Slender long bone, Abnormality of the elbow, Abnormal rib morphology, Abnormal hip bone morphology	ORPHA:1486
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Melas	Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis	ORPHA:550
Acrocephalopolydactylous Dysplasia	Epicanthus, Micromelia, Postaxial hand polydactyly, Upslanted palpebral fissure, Cystic renal dys...	OMIM:200995
Joubert Syndrome 23	Polydactyly	OMIM:616490
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Distal lower limb muscle weakness, Talipes equinovarus	ORPHA:466794
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Pes planus, Sandal gap, Abnormal foot morphology, Decreased/absent ankle reflexes, Abnormal renal...	ORPHA:477817
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Short stature, Hypospadias, Blepharophimosis, Patent ductus arteriosus,...	OMIM:300712
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Small hand, Elbow flexion contracture, Knee flexion contracture,...	ORPHA:371364
Frontometaphyseal Dysplasia 2	Hip contracture, Neurogenic bladder, Congenital hip dislocation, Short metacarpal, Ulnar deviatio...	OMIM:617137
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Robinow Syndrome	Dental crowding, Orofacial cleft, Webbed penis, Micropenis, Syndactyly, Multicystic kidney dyspla...	ORPHA:97360
Craniofrontonasal Syndrome	Ridged nail, Clinodactyly of the 5th finger, Split nail, Broad hallux, Hypospadias, Hemihypotroph...	OMIM:304110
D-Bifunctional Protein Deficiency	Epicanthus, Split hand, Renal cyst, Upslanted palpebral fissure, Hammertoe, Talipes equinovarus	OMIM:261515
Shwachman-Diamond Syndrome 1	Anterior rib cupping, Metaphyseal sclerosis, Enlargement of the costochondral junction, Metaphyse...	OMIM:260400
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia	OMIM:615524
Transketolase Deficiency	Increased level of ribose in urine, Patent ductus arteriosus, Conjunctivitis, Renal cyst	ORPHA:488618
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Tracheoesophageal fistula, Intestinal atresia	ORPHA:93941
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Telecanthus, Short stature, Down-sloping shoulders, Open bite, Deep philtrum, ...	ORPHA:1974
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidn...	OMIM:164210
Alg9-Cdg	Hypoplasia of the bladder, Telecanthus, Ulnar deviation of the hand, Rhizomelia, Ureteral hypopla...	ORPHA:79328
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Epicanthus, Arachnodactyly, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Campto...	ORPHA:562528
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Preauricular...	OMIM:107480
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Bead...	ORPHA:89936
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Oligodontia, Ureterocele, Vesicour...	OMIM:129900
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Talipes equinovarus, Hand...	OMIM:617988
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Small h...	OMIM:181405
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Pyloric stenosis, Thin ribs, Ptosis	ORPHA:169189
Central Core Disease	Pes planus, Rectus femoris muscle atrophy, Congenital hip dislocation, Talipes equinovarus	ORPHA:597
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Peutz-Jeghers Syndrome	Melanonychia, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell carcinoma, Multi...	ORPHA:2869
Arima Syndrome	Ptosis, Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Hematu...	OMIM:243910
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Antecubital pterygium, Absent phalangeal crease, Tarsal synostosis	OMIM:618469
Joubert Syndrome 33	Syndactyly	OMIM:617767
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre...	ORPHA:464329
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Telecanthus, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethy...	ORPHA:26791
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios...	OMIM:267010
Monosomy 18Q	Pes planus, Epicanthus, Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Patent d...	ORPHA:1600
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Pes planus, Tapered finger, Elbow flexion contracture, Talipes equinovarus, Radial de...	OMIM:272430
Methylcobalamin Deficiency Type Cble	Syndactyly, Glomerulopathy, Postnatal growth retardation, Hemolytic-uremic syndrome, Intrauterine...	ORPHA:2169
Zellweger Syndrome	Multicystic kidney dysplasia, Epicanthus, Hypospadias, Upslanted palpebral fissure, Epiphyseal st...	ORPHA:912
Schisis Association	Renal agenesis, Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal a...	ORPHA:63862
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Synophrys, Low anterior hairline, C...	ORPHA:199
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Epicanthus, Hypospadias, Nephroblastoma, Renal cyst, Upslanted palp...	OMIM:257300
Tolchin-Le Caignec Syndrome	Thick eyebrow, Arachnodactyly, Hooded eyelid, Submucous cleft hard palate, Nasolacrimal duct obst...	OMIM:618971
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Lateral ...	ORPHA:3144
Spondylodysplastic Ehlers-Danlos Syndrome	Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Slender long b...	ORPHA:536471
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Pyloric stenosis, Rib fusion, Cleft palate, Hand polydactyly	ORPHA:261197
Pyknoachondrogenesis	Palpebral edema, Hypoplastic ischia, Short iliac bones, Micromelia, Short thorax, Abnormal iliac ...	ORPHA:3003
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P...	OMIM:209900
Ring Chromosome 12 Syndrome	Syndactyly, Abnormal 5th finger morphology, Glandular hypospadias, Dystrophic toenail, Symphalang...	ORPHA:1439
Perrault Syndrome 1	Pes cavus, Talipes equinovarus	OMIM:233400
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Fragile nails, Keratoconjunctivitis sicca, Nail dystrophy...	OMIM:601675
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Abnormality of the dentition, Femoral bowing, Thin ribs, Long eyelashes	OMIM:617952
Micro Syndrome	Hypoplasia of penis, Abnormal localization of kidney, Hydronephrosis, Microphthalmia, Generalized...	ORPHA:2510
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger...	ORPHA:464
Fryns Syndrome	Multicystic kidney dysplasia, Hypoplastic fingernail, Hypospadias, Clinodactyly of the 5th finger...	ORPHA:2059
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Proteinuria, Rocker bottom foot, Tapered finger, Bilatera...	ORPHA:1272
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand p...	OMIM:236700
Amish Lethal Microcephaly	Organic aciduria, Cleft soft palate	ORPHA:99742
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Pe...	ORPHA:666
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Pes planus, Sparse scalp hair, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger c...	OMIM:620029
Lathosterolosis	Epicanthus, Toe syndactyly, Myelomeningocele, Postaxial hand polydactyly, Horseshoe kidney, Posta...	OMIM:607330
Renpenning Syndrome 1	Epicanthus, Brittle hair, Hypospadias, Telecanthus, Phimosis, Renal hypoplasia, Narrow foot, Upsl...	OMIM:309500
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Recurrent urinary tract infections, Toe syndactyly, Bilateral camptodactyly, Upslanted palpebral ...	OMIM:619234
3Mc Syndrome	Ptosis, Telecanthus, Highly arched eyebrow, Postnatal growth retardation, Limited pronation/supin...	ORPHA:293843
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Heparan sulfate excretion in urine, Syn...	OMIM:252940
Faciocardiomelic Syndrome	Telecanthus, Dental malocclusion, Wide mouth, Slender long bone, Long philtrum, Polydactyly, Narr...	OMIM:612731
De Barsy Syndrome	Dermal translucency, Epicanthus, Congenital hip dislocation, Patent ductus arteriosus, Coxa vara,...	ORPHA:2962
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Achard Syndrome	Arachnodactyly, Micrognathia	OMIM:100700
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Hyperhidrosis, Downturned corners of mouth, S...	ORPHA:453504
Specc1L-Related Hypertelorism Syndrome	Preauricular pit, Finger syndactyly, Ptosis, Highly arched eyebrow, Ectopic kidney, Patent ductus...	ORPHA:1519
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Hyperhidrosis, Downturned corners of mouth, S...	ORPHA:352665
Congenital Sialidosis Type 2	Abnormal EKG, Protruding tongue, Gingival overgrowth, Telangiectasia, Polydactyly, Petechiae	ORPHA:93400
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Hip dysplasia, Camptodactyly, Microphthalmia, Joint contractu...	OMIM:611961
Cog1-Cdg	Thin upper lip vermilion, Rhizomelia, Coxa valga, Pierre-Robin sequence, Rib fusion, Posterior ri...	ORPHA:263508
Tetrasomy 5P	Epicanthus, Redundant neck skin, Overlapping toe, Short hallux, Long fingers, Upslanted palpebral...	ORPHA:3309
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Overlapping toe, Genu recurvatum, Hip dislocation, Elbow flexion contracture, Lo...	OMIM:617301
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, En...	ORPHA:289157
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Alopecia, Telecanthus, Fine hair, Upslanted palpebral fissure, Microphthalmia	ORPHA:228390
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Highly arched eyebrow...	ORPHA:1454
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Hypospadias, Optic nerve hypoplasia, Sparse eyebrow, Synophrys, Low anterior hairl...	ORPHA:495875
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Small hand, Short foot, Short palm, Microphthalmia, Micropenis	OMIM:241410
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Short stature, Unilateral renal agenesis, High, narrow pala...	OMIM:188400
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Upslanted palpebral fissure, Clinodactyly, Talipes equinovarus	OMIM:616789
Pontocerebellar Hypoplasia, Type 11	Pes planus, Talipes equinovarus	OMIM:617695
Pontocerebellar Hypoplasia, Type 1A	Abnormal foot morphology, Talipes equinovarus	OMIM:607596
Myhre Syndrome	Short philtrum, Hypoplastic iliac wing, Broad ribs, Cleft lip, Short toe, 2-3 toe syndactyly, Con...	OMIM:139210
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Scarring alopecia of scalp, Unilateral narrow palpebral fissure, Microp...	OMIM:618727
Adnp Syndrome	Thin upper lip vermilion, Recurrent urinary tract infections, Broad hallux, Sandal gap, Short sta...	ORPHA:404448
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Patent ductus arteriosus, Hypercalciuria, Renal cyst, Upper limb undergrowth, Nephrocalcinosis, S...	ORPHA:369837
Aicardi-Goutières Syndrome	Ptosis, Micropenis, Dry skin, Eyelid coloboma	ORPHA:51
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Renal cyst, Postauricular pit, Clin...	OMIM:113620
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Epicanthus, Pancreatic cysts, Renal cyst, Buphthalmos, Polycystic kidney dysplasia, Umbilical hernia	OMIM:610199
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Pes cavus, Split hand, Genu recurvatum, Talipes equinovarus	OMIM:604168
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture of ...	OMIM:300166
Spondyloepimetaphyseal Dysplasia, X-Linked	Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum...	OMIM:300106
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Overlapping toe, Narrow palpebral fissure, Horizontal eyebrow, Microphthalmia, Renal ...	OMIM:618571
Larsen Syndrome	Finger syndactyly, Brachydactyly, Short stature, Accessory carpal bones, Cleft palate, Abnormal e...	ORPHA:503
Hypoglossia-Hypodactylia	Split hand, Adactyly, Retrognathia, Micrognathia	OMIM:103300
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Highly arched eyebrow, Ulnar bowing, Shortening of all distal phalanges o...	OMIM:619135
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Short long bone, Talipes equinovar...	OMIM:224410
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Submucous cleft hard pala...	ORPHA:457279
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Thin ribs, Abnormal renal corticomedullary differentiation, Bradycardia, Pet...	OMIM:617397
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Dry skin, Hypertrichosis, Cutis laxa	OMIM:612379
Autosomal Recessive Spastic Paraplegia Type 59	Talipes equinovarus	ORPHA:401795
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Charcot-Marie-Tooth Disease, Type 4C	Hammertoe, Pes cavus, Talipes equinovarus	OMIM:601596
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Proximal placement...	OMIM:261540
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus	OMIM:618174
Spinocerebellar Ataxia, Autosomal Recessive 21	Talipes equinovarus	OMIM:616719
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Talipes cavus equinovarus	ORPHA:139485
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short stature, Genu varum, Melanocytic nevus, Multiple cafe-au-lait spots, Sho...	ORPHA:1969
Spastic Paraplegia 86, Autosomal Recessive	Talipes equinovalgus, Bilateral talipes equinovarus	OMIM:619735
Coffin-Siris Syndrome 12	Synophrys, High palate, Hypospadias, Highly arched eyebrow, Short thumb, Celiac disease, Velophar...	OMIM:619325
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Bowing of the lo...	ORPHA:564
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Postaxial polydactyly, Tubular luminal dilatation, Renal corticomedullary cy...	OMIM:219730
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Patent ductus arteriosus, Microphthalmia	ORPHA:77298
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, Pectus carinatum, High palate, Broad...	OMIM:619472
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia	OMIM:619774
Prader-Willi Syndrome	Thin upper lip vermilion, Syndactyly, Short stature, Carious teeth, Almond-shaped palpebral fissu...	OMIM:176270
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Talipes equinovarus	OMIM:617481
Congenital Disorder Of Glycosylation, Type 2V	Epicanthus, Low posterior hairline, Narrow palpebral fissure, Talipes equinovarus, Downslanted pa...	OMIM:619493
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Blepharophimosis, Patent ductus arteriosus, Bilateral microphtha...	OMIM:601186
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Mitral regurgitation, Long palpebral fissure, Ptosis	OMIM:603387
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Short stature, Rocke...	ORPHA:163979
Meester-Loeys Syndrome	Arachnodactyly, Gingival overgrowth, Abnormal sternum morphology, High palate, Broad distal phala...	OMIM:300989
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Heparan sulfate excretion in urine, Synophrys, Asymmetric septal hypertrophy, Eve...	OMIM:252930
Alg8-Cdg	Cutis laxa, Talipes equinovarus, Camptodactyly, Premature skin wrinkling, Brachydactyly	ORPHA:79325
Wiedemann-Rautenstrauch Syndrome	Genu varum, Long toe, Absent eyebrow, Alopecia, Hypospadias, Absent eyelashes, Sparse eyebrow, Lo...	OMIM:264090
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Ankyloblepharon, Cleft palate, Popliteal pter...	OMIM:119500
Ring Chromosome 7 Syndrome	Unilateral ptosis, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th finge...	ORPHA:1449
Hardikar Syndrome	Preauricular pit, Renal insufficiency, Hydroureter, Lacrimal duct stenosis, Cleft soft palate, In...	OMIM:301068
Spondylo-Ocular Syndrome	Pes planus, Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Low posterior hairline, ...	ORPHA:85194
Congenital Disorder Of Glycosylation, Type If	Dry skin, Scaling skin, Renal cortical cysts	OMIM:609180
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar c...	OMIM:617527
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Short metat...	OMIM:618150
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Nail dy...	ORPHA:139471
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Plantar flexion contracture, Talipes equinovarus, Absent Achilles reflex	OMIM:620011
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, ...	ORPHA:534
Aicardi Syndrome	Intestinal polyposis, Missing ribs, Hiatus hernia, Malabsorption, Cleft upper lip, Rib fusion, Sm...	ORPHA:50
Monosomy 22	Finger syndactyly, Epicanthus, Single transverse palmar crease, Synophrys, Clubbing, Micropenis, ...	ORPHA:96123
Loeys-Dietz Syndrome	Abnormal bleeding, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Pectus excavatum, Oro...	ORPHA:60030
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Bifid uvula, Hy...	OMIM:218600
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Hi...	ORPHA:2879
Cutis Laxa, Autosomal Recessive, Type Iid	Entropion, Redundant skin, Hip dislocation, Cutis laxa, Hip dysplasia, Talipes equinovarus, Campt...	OMIM:617403
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Dental malocclusion, Devi...	OMIM:269500
Walker-Warburg Syndrome	Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Bifid uvula	ORPHA:899
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Tibial bowing, Thin ribs, Slender long bone, Pulmonary arterial hypertension...	OMIM:259420
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Patent ductus arteriosus, Abnormal metaphysis mor...	ORPHA:290
Neurocardiofaciodigital Syndrome	Syndactyly, Short stature, Sparse eyebrow, Patent ductus arteriosus, Narrow palpebral fissure, Th...	OMIM:619869
Frontorhiny	Encephalocele, Ptosis, Epicanthus, Camptodactyly of finger, Widow's peak, Finger clinodactyly, Ba...	ORPHA:391474
Autosomal Recessive Spastic Paraplegia Type 66	Talipes equinovarus	ORPHA:401815
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Epicanthus, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, High palate, Vesicoureteral reflux, Syndactyly, Broad hallux, Short stature, Hyp...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, High palate, Vesicoureteral reflux, Syndactyly, Broad hallux, Short stature, Hyp...	ORPHA:353277
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Mosaic Trisomy 16	Syndactyly, Hypospadias, Single transverse palmar crease, Short thumb, Patent ductus arteriosus, ...	ORPHA:1708
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Posterior rib gap, Cleft palate, Bell-shaped thorax, Glossoptosis, ...	ORPHA:1393
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu...	ORPHA:358
Barth Syndrome	Fair hair, 3-Methylglutaconic aciduria, Talipes equinovarus	OMIM:302060
Kyphoscoliotic Ehlers-Danlos Syndrome	Pes planus, Epicanthus, Congenital hip dislocation, Arachnodactyly, Abnormality of the hand, Abno...	ORPHA:536545
Fanconi Anemia, Complementation Group N	Epicanthus, Postnatal growth retardation, Short thumb, Nephroblastoma, Cafe-au-lait spot	OMIM:610832
Frontonasal Dysplasia 2	Encephalocele, Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Sparse eyebrow,...	OMIM:613451
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Short stature, Tapered...	ORPHA:480880
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Neurogenic bladder, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell...	OMIM:613686
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Vesicoureteral reflux, Hypospadias, Arachnodactyly, Spina bifida, Pat...	ORPHA:567
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Premature loss of primary teeth, Abnormal ri...	ORPHA:667
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Epicanthus, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, Talipes equinovar...	OMIM:277380
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Cutis Laxa, Autosomal Recessive, Type Iic	Pes planus, Entropion, Overlapping toe, Blepharophimosis, Knee flexion contracture, Nephrocalcino...	OMIM:617402
Faundes-Banka Syndrome	Pes planus, Sparse scalp hair, Epicanthus, Hypoplastic toenails, Hypoplasia of the lower eyelids,...	OMIM:619376
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Renal cyst, Hyperechogenic kidneys, Ptosis	OMIM:615636
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Synophrys, Thickened ribs, Asymmetric septal hypertrophy	OMIM:252920
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Spastic Paraplegia 50, Autosomal Recessive	Talipes equinovarus, Adducted thumb	OMIM:612936
Bloom Syndrome	Syndactyly, Postnatal growth retardation, Spotty hypopigmentation, Agenesis of maxillary lateral ...	OMIM:210900
Floating-Harbor Syndrome	Short metacarpal, Brachydactyly, Hypospadias, Renal agenesis, Avascular necrosis of the capital f...	ORPHA:2044
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Okamoto Syndrome	Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper...	ORPHA:2729
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Calf muscle hypertrophy, Scapular muscle atrophy, Peroneal muscle weakness, Talipes equinovarus	OMIM:611588
Frank-Ter Haar Syndrome	Bowing of the long bones, Redundant neck skin, Abnormally large globe, Metatarsus adductus, Flare...	OMIM:249420
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Velocardiofacial Syndrome	Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin ...	OMIM:192430
Incontinentia Pigmenti	Hypoplasia of the fovea, Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine h...	OMIM:308300
Cystic Echinococcosis	Membranous nephropathy, Hepatic cysts, Renal cyst, Ovarian cyst	ORPHA:400
Fontaine Progeroid Syndrome	Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Micropenis, Syndac...	OMIM:612289
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Overlapping toe, Renal cyst	OMIM:617478
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Short stature, Cleft upper lip, Long fingers, Synophrys, Cleft palate...	OMIM:614294
Joint Laxity, Short Stature, And Myopia	Umbilical hernia, Talipes equinovarus	OMIM:617662
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Long fingers, Talipes equinovarus, Pes cavus	ORPHA:169186
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Patent ductus arteriosus, Stage 5 chronic k...	OMIM:208540
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Patent ductus arteriosus, Renal hypoplasia, Polycystic ki...	ORPHA:84064
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Long fingers, Upslanted palpebral fissure, Bilateral talipes equinovarus, Talipes equinovarus, Ca...	OMIM:618343
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Keratoconjunctivitis sicca, Sparse hair, M...	ORPHA:1806
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Synophrys, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uv...	OMIM:607872
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Aminoaciduria, Ketonuria, High palate	OMIM:614520
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Blepharophimosis, Absent radius, Aplasia...	ORPHA:1352
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Glass Syndrome	Arachnodactyly, Anterior tibial bowing, Long eyelashes, Talipes equinovarus, Nail dysplasia, Camp...	OMIM:612313
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
X-Linked Intellectual Disability, Armfield Type	Epicanthus, Short stature, Patent ductus arteriosus, Abnormality of the elbow, Small hand, Cleft ...	ORPHA:85276
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Talipes equinovarus	OMIM:618917
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur, Glandular hypospadias	OMIM:620306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Synophrys, Thickened ribs, Asymmetric septal hypertrophy	OMIM:252900
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi...	ORPHA:87
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar creases, Th...	OMIM:612394
Peroxisome Biogenesis Disorder 7A (Zellweger)	Epiphyseal stippling, Talipes equinovarus	OMIM:614872
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Kapur-Toriello Syndrome	Patent ductus arteriosus, Microphthalmia, Hypoplasia of penis	ORPHA:2328
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Pes planus, Sandal gap, Arachnodactyly, Hip dysplasia, Talipes equinovarus, Camptodactyly	OMIM:617146
Waardenburg Syndrome, Type 1	Smooth philtrum, Telecanthus, White eyelashes, White eyebrow, Synophrys, Orofacial cleft, Supernu...	OMIM:193500
Adams-Oliver Syndrome 5	Syndactyly, Esophageal varix, Cutis marmorata telangiectatica congenita, Aplasia cutis congenita,...	OMIM:616028
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Tapered finger, Blepharophimosis, Patent ductus arteriosus, Small hand, Renal hypoplasia, Hip dys...	OMIM:620005
Congenital Disorder Of Glycosylation, Type Ia	Proteinuria, Almond-shaped palpebral fissure, Renal cyst, Nephrotic syndrome, Proximal tubulopathy	OMIM:212065
Craniorachischisis	Bifid sternum, Anal atresia, Sirenomelia	ORPHA:63260
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia	ORPHA:35125
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Larsen-Like Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Radial deviation of the 4th finger, Bipartit...	OMIM:608545
Holoprosencephaly	Encephalocele, Ptosis, Hypoplasia of penis, Anophthalmia, Proteinuria, Talipes, Highly arched eye...	ORPHA:2162
Pentalogy Of Cantrell	Hypospadias, Renal agenesis, Non-midline cleft lip, Split hand, Abnormal tibia morphology, Cleft ...	ORPHA:1335
Loeys-Dietz Syndrome 4	Pes planus, Arachnodactyly, Protrusio acetabuli, Talipes equinovarus, Downslanted palpebral fissu...	OMIM:614816
Tuberous Sclerosis 1	Renal cyst, Renal cell carcinoma, Preauricular hair displacement, Renal angiomyolipoma, Subungual...	OMIM:191100
Schinzel-Giedion Syndrome	Overlapping fingers, Hypospadias, Nephroblastoma, Overlapping toe, Generalized hypertrichosis, Ab...	ORPHA:798
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Talipes, Renal hypoplasia/aplasia, Postaxial han...	ORPHA:2166
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Talipes equinovarus	OMIM:209770
Bruck Syndrome	Bowing of the long bones, Talipes equinovarus, Pterygium	ORPHA:2771
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Patent ductus arteriosus, 2-3 finger syndactyly, Hamartoma of tongue	ORPHA:1338
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Nephrocalcinosis...	ORPHA:79500
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Congenital hip dislocation, Epispadias...	OMIM:258040
Spastic Paraplegia 52, Autosomal Recessive	Talipes equinovarus	OMIM:614067
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Costello Syndrome	Deep-set nails, Hyperextensibility of the finger joints, Renal insufficiency, Redundant neck skin...	OMIM:218040
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Shwachman-Diamond Syndrome 2	Anterior rib cupping, Metaphyseal widening, Prolonged prothrombin time, High palate, Steatorrhea,...	OMIM:617941
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm...	ORPHA:249
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Pectus carina...	ORPHA:261537
Severe Congenital Nemaline Myopathy	Hypospadias, Abnormal thorax morphology, Thin ribs, Micropenis, Adducted thumb	ORPHA:171430
Microphthalmia, Syndromic 5	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, Short phalanx of finger, ...	OMIM:143095
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Long toe, Pes planus, Bowing of the long bones, Sparse scalp hair, Arachnodactyly, Single transve...	OMIM:130070
Coffin-Siris Syndrome 1	Single transverse palmar crease, Ectopic kidney, Conical tooth, Prominent interphalangeal joints,...	OMIM:135900
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Long fingers, Upslanted palpebral fissure, Hypoplastic nipples, Blepharophimosis, Mic...	OMIM:156610
Renal Agenesis, Bilateral	Epicanthus, Renal agenesis, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Siren...	ORPHA:1848
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Calf muscle hypertrophy, Microphthalmia	OMIM:613155
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra...	OMIM:304120
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic aciduria, Bell-shaped thorax, Pulmonary arterial hypertension, Homocystinuria, Hori...	OMIM:614857
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Renal cell carc...	OMIM:613254
Trichothiodystrophy 3, Photosensitive	Brittle hair, Microphthalmia, Tiger tail banding, Trichorrhexis nodosa, Ectropion	OMIM:616395
Mpdu1-Cdg	Scaling skin, Renal cortical cysts	ORPHA:79323
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Sparse eyebr...	OMIM:309583
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Upslanted palpebral fissure, Microphthalmia, Epicanthus, Downslanted palpebral fissures	OMIM:152950
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Sparse scalp hair, Pat...	OMIM:606170
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Epicanthus, Abnormal dental morphology, Abnormal or...	ORPHA:2136
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Pes cavus, Talipes equinovarus, Intrinsic hand muscle atrophy, Knee flexion contracture	OMIM:615490
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Dental crowding, Left ventricular noncompaction cardiomyopathy, High, narrow palat...	OMIM:300967
Histiocytoid Cardiomyopathy	Renal cyst, Polycystic ovaries, Pallor, Microphthalmia, Congenital aphakia	ORPHA:137675
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Hartsfield Syndrome	Syndactyly, Epicanthus, Median cleft lip, Hypospadias, Cleft upper lip, Cleft palate, Growth dela...	OMIM:615465
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Pancreatic cysts, Renal cyst, Pedal edema, Abnormal bladder morp...	ORPHA:284
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Single transverse palmar crease, Downturned corners of ...	OMIM:619522
Microphthalmia, Isolated 8	Entropion, Anophthalmia, Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Short palpebr...	OMIM:615113
Kabuki Syndrome 1	Congenital hip dislocation, High palate, Prominent fingertip pads, Micropenis, Preauricular pit, ...	OMIM:147920
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Thick eyebrow, Talipes equinovarus, Highly arched eyebrow	OMIM:617865
Developmental And Epileptic Encephalopathy 89	Highly arched eyebrow, Sparse eyebrow, Upslanted palpebral fissure, Talipes equinovarus, Neonatal...	OMIM:619124
Hydrolethalus Syndrome 1	Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hal...	OMIM:236680
Coloboma, Ocular, Autosomal Dominant	Vesicoureteral reflux, Optic nerve aplasia, Microphthalmia	OMIM:120200
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon	OMIM:611038
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Aicardi Syndrome	Skin tags, Proximal placement of thumb, Hiatus hernia, Missing ribs, Cleft upper lip, Rib fusion,...	OMIM:304050
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Bilateral talipes equinovarus, Ankle flexion contracture, Knee flexion contracture	ORPHA:284417
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Pectus carina...	ORPHA:261552
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Microphthalmia, Generalized hirsutism, Ptosis	ORPHA:1915
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Proteus Syndrome	Abnormal finger morphology, Renal cyst, Clinodactyly of the 5th finger, Abnormality of the wrist,...	ORPHA:744
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Epicanthus, Abnormality of the upper limb, Clinodactyly of the 5th ...	ORPHA:1052
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Pes planus, Arachnodactyly, Broad hallux, Downslanted palpebral fissures, Short finger, Microphth...	OMIM:601552
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Thin ribs	OMIM:614833
Larsen Syndrome	Short metacarpal, Short nail, Spatulate thumbs, Elbow dislocation, Talipes equinovalgus, Dislocat...	OMIM:150250
Distal Deletion 6P	Epicanthus, Hypoplasia of the iris, Short foot, Talipes equinovarus, Abnormal epiphysis morpholog...	ORPHA:96125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Low anterior hairline	OMIM:613153
Grange Syndrome	Syndactyly, Renovascular hypertension, Finger clinodactyly, Renal artery stenosis, Brachydactyly	OMIM:602531
Wiedemann-Rautenstrauch Syndrome	Synophrys, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Premat...	ORPHA:3455
Intellectual Developmental Disorder, Autosomal Dominant 39	Bilateral talipes equinovarus	OMIM:616521
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Pes planus, Ptosis, Epicanthus, Hypospadias, Tapered finger, Clinodactyly, Renal hypoplasia, Tali...	OMIM:309580
Prune1-Related Neurological Syndrome	Bilateral talipes equinovarus	ORPHA:544469
Mowat-Wilson Syndrome	Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Pectus carina...	ORPHA:2152
Isolated Arrhinia	Microphthalmia, Eyelid coloboma	ORPHA:1134
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Hypoplasia of penis, Epicanthus, Hypospadias, Abnormality of the kid...	ORPHA:1606
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Ungual fibroma, Ret...	ORPHA:805
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Renal neoplasm, Bowing of the long bones, Dermal translucency, Arachnodactyly, Pha...	ORPHA:536467
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Aniridia, Microphthalmia, Downslanted palpebral fissures, Camptodacty...	ORPHA:251038
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Overlapping toe, Single transverse palmar crease, Supernumerary nipple, Hip dislocati...	OMIM:613884
Microhydranencephaly	Hydranencephaly, Talipes equinovarus	OMIM:605013
Timothy Syndrome	Microdontia, Thin upper lip vermilion, Patent ductus arteriosus, Cutaneous syndactyly	OMIM:601005
Prader-Willi Syndrome Due To Translocation	Pes planus, Hypopigmentation of hair, Overlapping toe, Abnormality of the kidney, Almond-shaped p...	ORPHA:177907
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage, Thin ribs	OMIM:615368
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Hypospadias, Patent ductus arteriosus, Orofacial cleft, Methylmalonic...	ORPHA:17
Legius Syndrome	Short stature, Nephrolithiasis, Multiple cafe-au-lait spots, Diaphyseal dysplasia, Xanthelasma, P...	ORPHA:137605
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot...	OMIM:619471
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Mild postnatal growth retardation, Single transverse palmar crease, Deep philt...	OMIM:150230
Yunis-Varon Syndrome	Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Short metatarsa...	OMIM:216340
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Short stature, Smooth philtrum, Long philtrum	OMIM:616430
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Hypoplastic scapulae, Epicanthus, Pilomatrix...	ORPHA:3310
Charcot-Marie-Tooth Disease, Type 4D	Pes cavus, Talipes cavus equinovarus, Claw hand deformity, Hammertoe	OMIM:601455
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Sparse pubic hair, Blepharophimosis, Microphthalmia, Epicanth...	OMIM:110100
Witteveen-Kolk Syndrome	Proximal placement of thumb, Clinodactyly, Male urethral meatus stenosis, Microphallus, Short pal...	OMIM:613406
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Retinal capillary ...	OMIM:193300
Ullrich Congenital Muscular Dystrophy 1	Increased laxity of ankles, Hip dislocation, Talipes equinovarus, Increased laxity of fingers	OMIM:254090
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, Abnormal eyelid ...	ORPHA:2526
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Enlar...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Enlar...	ORPHA:99228
Monosomy X	Myocardial infarction, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Enlar...	ORPHA:99226
Turner Syndrome	Myocardial infarction, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Enlar...	ORPHA:881
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea...	OMIM:607932
Cockayne Syndrome B	Renal insufficiency, Dry hair, Proteinuria, Abnormal hair morphology, Ivory epiphyses of the phal...	OMIM:133540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Umbilical hernia, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Micrognathia, ...	ORPHA:56305
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ...	ORPHA:2250
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Talipes equinovarus	ORPHA:171695
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio...	OMIM:610682
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Missing ribs, Rib fusion, Thin ribs, Urethral atresia, Short ribs, Hydronephrosis, Anal atresia	OMIM:271520
Hallermann-Streiff Syndrome	Alopecia, Telecanthus, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Small hand,...	ORPHA:2108
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst...	ORPHA:892
Loeys-Dietz Syndrome 2	Syndactyly, Dermal translucency, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration o...	OMIM:610168
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Epicanthus, Congenital hip dislocation, Almond-shaped palpebral fissure, Long fingers, Fetal pyel...	OMIM:619512
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Telecanthus, Arachnodactyly, Nephrotic syndrome, Talipes equinovarus, Umbilical hernia, Ecchymosi...	OMIM:601776
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Arachnodactyly, Talipes equinovarus, Camptodactyly	OMIM:301039
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Ulnar deviation o...	ORPHA:1101
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Epicanthus, Thick upper lip vermilion, Thick lower lip vermilion, Broad is...	OMIM:619727
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Epicanthus, Tapered finger, Narrow palpebral fissure, Talipes equinovarus, Downslanted palpebral ...	OMIM:613603
Classical Ehlers-Danlos Syndrome	Pes planus, Epicanthus, Phalangeal dislocation, Abnormal foot morphology, Dermatochalasis, Hip di...	ORPHA:287
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Highly arched eyebrow, Bilateral talipe...	OMIM:619775
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Hip dislocation, Flattened epiphysis, Coxa vara, Cervical myelopathy, Tal...	OMIM:183900
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Talipes cavus equinovarus	ORPHA:59135
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Laryngeal Abductor Paralysis	Talipes equinovarus	OMIM:150260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Renal cortical cysts, Deep plantar creases, Vesicoureteral reflux, Hooded upper eyel...	OMIM:618548
Synaptic Congenital Myasthenic Syndromes	Abnormality of the knee, Scapular winging, Limited wrist extension, Hand muscle weakness, Bilater...	ORPHA:98915
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Ectropion, Epicanthus, Concave nail, Bi...	ORPHA:33364
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Abnormal nasolacrimal system morphology, Camptodactyly of finger, Blepharophimosis, Submucous cle...	ORPHA:3047
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Sparse eyebrow, Unilateral brachydactyly, Wide mouth, High pa...	ORPHA:1521
Rodrigues Blindness	Sparse hair, Microphthalmia, Fine hair	OMIM:268320
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion	OMIM:277300
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Mucolipidosis Type Ii	Hip contracture, Dry hair, Epicanthus, Limited wrist movement, White hair, Hip dislocation, Knee ...	ORPHA:576
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femora...	OMIM:610915
Kagami-Ogata Syndrome	Pursed lips, Coxa valga, Bell-shaped thorax, Broad philtrum, Coat hanger sign of ribs, Blepharoph...	ORPHA:254519
Osteogenesis Imperfecta, Type Xv	Thin ribs	OMIM:615220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Talipes cavus equinovarus, Synophrys, Prominent protruding coccyx, Nasolacrimal duct obstruction,...	OMIM:300966
Cardiospondylocarpofacial Syndrome	Ptosis, Epicanthus, Telecanthus, Tarsal synostosis, Rib fusion, Vesicoureteral reflux, Horseshoe ...	OMIM:157800
Carey-Fineman-Ziter Syndrome 1	Epicanthus, Lagophthalmos, Tapered finger, Pectoralis hypoplasia, Talipes equinovarus, Downslante...	OMIM:254940
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cleft upper lip, Patent ductus arteriosus, Split hand, Clubbing, Cleft palate, Growt...	OMIM:600460
Atelis Syndrome 2	Pes planus, Epicanthus, Single transverse palmar crease, Patent ductus arteriosus, Microphthalmia...	OMIM:620185
Seckel Syndrome 9	Recurrent urinary tract infections, Talipes equinovarus, Hypertrichosis	OMIM:616777
Cardiac Valvular Dysplasia 1	Hydroureter, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pul...	OMIM:212093
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia, Shallow orbits	OMIM:617306
Microphthalmia, Syndromic 1	Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial...	OMIM:309800
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Malabsorption, Avascular necrosis of the capital femoral epiphysis,...	ORPHA:581
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Thickened ribs, Highly arched eyebrow, Pectus excavatum, Genu valgum, Pectu...	ORPHA:309282
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Wrinkly Skin Syndrome	Pes planus, Scapular winging, Congenital hip dislocation, Epicanthus, Redundant skin, Short nail,...	OMIM:278250
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Epicanthus, Jejunal atresia, Hypospadias, Ileal atresia, Epicanthus inversus, Upslant...	OMIM:618820
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5...	OMIM:609049
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Telecanthus, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Microphthalmia, Broad...	ORPHA:1236
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Calf muscle pseudohypertrophy, Optic nerve hypoplasia	ORPHA:370959
Spastic Paraplegia 51, Autosomal Recessive	Downslanted palpebral fissures, Talipes equinovarus	OMIM:613744
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Pectus excavatum, Abnormality of the dentition, Distal renal tubula...	ORPHA:2785
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Gm1-Gangliosidosis, Type I	Thickened ribs, Congestive heart failure, Dilated cardiomyopathy, Gingival overgrowth, Hypertroph...	OMIM:230500
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Hand monodactyly, Micropenis, Hypoplasia of the ul...	OMIM:214800
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Knee flexion contracture, Epiphyseal stippling, Coarse hair, Talipes equinovarus...	OMIM:118650
Optic Atrophy 11	Bilateral talipes equinovarus, Optic nerve hypoplasia	OMIM:617302
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Epicanthus, Abnormal location of the eyebrow, Equinus calcaneus, Almond-shaped palpebral fissure,...	ORPHA:522077
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Hypospadias, Brachydactyly, M...	ORPHA:709
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Ungual fibroma, Retinal hamartoma, Hematuria, Multiple re...	ORPHA:538
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Coccidioidomycosis	Urticarial plaque, Pericarditis, Renal insufficiency, Indurated nodule, Vasculitis, Verrucous pap...	ORPHA:228123
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Camptodactyly of finger	OMIM:616920
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Hypoplasia of the radius, H...	ORPHA:3412
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Renal c...	OMIM:601803
Mend Syndrome	Telecanthus, Overlapping fingers, Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly...	ORPHA:401973
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Sotos Syndrome	Ureteral duplication, Pedal edema, Vesicoureteral reflux, Hypospadias, Abnormality of the kidney,...	ORPHA:821
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Retinitis Pigmentosa 74	Abnormal renal morphology, Polydactyly	OMIM:616562
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Talipes equinovarus	OMIM:619752
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Williams Syndrome	Hypoplasia of penis, Redundant skin, Hypoplastic toenails, Abnormal tubulointerstitial morphology...	ORPHA:904
16P13.11 Microdeletion Syndrome	Metatarsus valgus, Camptodactyly of finger, Downslanted palpebral fissures, Talipes equinovarus	ORPHA:261236
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ptosis, Short stature, Epicanthus, Clinodacty...	ORPHA:1587
Caroli Disease	Conjunctival icterus, Polycystic kidney dysplasia	ORPHA:53035
Lymphedema-Distichiasis Syndrome	Ectropion, Yellow nails, Patent ductus arteriosus, Conjunctivitis, Microphthalmia, Distichiasis, ...	OMIM:153400
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Wrist swelling, Bicarbonaturia, ...	OMIM:309000
Infantile Liver Failure Syndrome 3	Talipes equinovarus, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral ...	OMIM:618641
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Patent ductus arteriosus,...	OMIM:206900
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Short metacarpal, Talipes equinovarus, Short distal phalanx of finger	ORPHA:86822
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Stomatitis, Broad ribs, Flaring of rib cage	OMIM:612852
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Renal hypoplasia/aplasia, Abnormality of...	ORPHA:3186
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Pes planus, Hip dislocation, Elbow flexion contracture, Congenital bilateral hip dislocation, Tal...	ORPHA:1900
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Blepharophimosis, Arachnodactyly, Talipes equinovarus	OMIM:619036
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Heparan sulfate excretion in...	ORPHA:217085
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Synophrys, Lacrimal duct atresia, Microphthalmia, Micropenis	OMIM:603457
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Narrow palpebral fissure, Ptosis	OMIM:615145
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Thin upper lip vermilion, Toe clinodactyly, Epicanthus, Sandal gap, Telec...	OMIM:620330
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Small nail, M...	OMIM:100300
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Renal agenesis, Hypoplastic toenails, Patent ductus arteriosus, Myelo...	OMIM:306955
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Heparan sulfate excretion in...	ORPHA:217093
Tetraamelia Syndrome 1	Microphthalmia, Urethral atresia, Renal agenesis, Hypoplastic pelvis	OMIM:273395
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Mild postnatal growth retardation	OMIM:224120
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Epicanthus, Long fingers, Patent ductus arteriosus, Talipes equinovarus, Ch...	OMIM:613355
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal nasolacrimal system morphology, Ab...	ORPHA:2556
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad eyebrow, Hypospadias, Single transverse palmar crease, Palpebral edema, Synophrys, Genu val...	OMIM:619475
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria, Ptosis	ORPHA:699
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Tapered finger, Talipes equinovarus, Short palm, Umbilical hernia, Broad thumb	OMIM:614501
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Epicanthus, Absent nipple, Broad hallux, Single transverse palmar crease, Sparse ...	OMIM:620186
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Pes cavus, Talipes equinovarus	ORPHA:98808
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Single transverse palmar crease, Chordee, Microphthalmia, Micropenis	OMIM:309801
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fingers, Achilles tendon con...	OMIM:616263
Desmosterolosis	Epicanthus, Rhizomelia, Patent ductus arteriosus, Bilateral talipes equinovarus, Joint contractur...	OMIM:602398
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Hypospadias, Pectus excavatum, Pyloric stenosis...	OMIM:235730
Japanese Encephalitis	Genu recurvatum, Elbow flexion contracture, Distal upper limb muscle weakness, Talipes equinovaru...	ORPHA:79139
Choanal Atresia	Polydactyly	ORPHA:137914
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Abnorm...	ORPHA:79345
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion	OMIM:278730
Lethal Congenital Contracture Syndrome 9	Ulnar deviation of the hand, Antecubital pterygium, Talipes equinovarus, Short umbilical cord, Jo...	OMIM:616503
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Phocomelia, Mi...	OMIM:184705
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Meningocele	ORPHA:991
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly ...	OMIM:620025
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Pontine Tegmental Cap Dysplasia	Rib fusion, Ptosis	OMIM:614688
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Caroli Syndrome	Conjunctival icterus, Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Dermal sinus tract, Urinary rete...	OMIM:600145
Iniencephaly	Encephalocele, Renal agenesis, Rhizomelia, Spina bifida, Rocker bottom foot, Myelomeningocele, An...	ORPHA:63259
Holoprosencephaly 13, X-Linked	Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in...	OMIM:301043
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Abnormality of the kidney, Spina bifida, ...	ORPHA:2369
Vascular Ehlers-Danlos Syndrome	Ptosis, Alopecia, Congenital hip dislocation, Hypospadias, Redundant skin, Telecanthus, Abnormali...	ORPHA:286
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 chronic kidney...	ORPHA:731
Linear Nevus Sebaceus Syndrome	Microphthalmia, Alopecia, Genu recurvatum, Telecanthus	ORPHA:2612
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Micropenis	OMIM:610829
Ehlers-Danlos Syndrome, Vascular Type	Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Talipes equinova...	OMIM:130050
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Erythema, Talipes equinovarus	OMIM:614653
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Hypospadias, Chordee	OMIM:618891
Beckwith-Wiedemann Syndrome	Ureteral duplication, Redundant skin, Large placenta, Nephrolithiasis, Hypercalciuria, Congenital...	ORPHA:116
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Knee flexion contracture, Overlapping fingers, Dilatation of the renal pelvis, Bilateral talipes ...	OMIM:619708
Congenital Myopathy 13	Telecanthus, Bilateral talipes equinovarus, Blepharophimosis, Downslanted palpebral fissures, Sho...	OMIM:255995
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia, Adducted thumb	OMIM:614643
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio...	ORPHA:3206
Abetalipoproteinemia	Keratoconjunctivitis sicca, Talipes equinovarus, Distal lower limb muscle weakness, Pes cavus, Pt...	ORPHA:14
Rett Syndrome, Congenital Variant	Pes planus, Talipes equinovarus	OMIM:613454
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Singleton-Merten Syndrome 1	Ptosis, Hypoplastic distal radial epiphyses, Coxa valga, Hip dislocation, High anterior hairline,...	OMIM:182250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Multicystic kidney dysplasia, Anencephaly, Micropenis, Hydronephrosis	OMIM:615287
Autosomal Recessive Spastic Paraplegia Type 55	Talipes equinovarus, Tibialis muscle weakness	ORPHA:320375
Oculo-Palato-Cerebral Syndrome	Short foot, Microphthalmia, Small hand, Aplasia/Hypoplasia of the nails	ORPHA:2714
Intellectual Developmental Disorder, Autosomal Dominant 38	Epicanthus, Downslanted palpebral fissures, Talipes equinovarus	OMIM:616393
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmi...	OMIM:236670
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E...	OMIM:130650
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Syndactyly, Renal insufficiency, Short stature, Postaxial polydactyly, Patent ductus ...	OMIM:619534
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Loeys-Dietz Syndrome 1	Arachnodactyly, Patent ductus arteriosus, Postaxial hand polydactyly, Talipes equinovarus, Campto...	OMIM:609192
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Phace Association	Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia, Horner syndrome	OMIM:606519
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Congenital hip dislocation, Ankle flexion contracture, Elbow flexion contracture...	ORPHA:2020
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Calf muscle hypertrophy	OMIM:253800
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Loeys-Dietz Syndrome 3	Pes planus, Arachnodactyly, Protrusio acetabuli, Patent ductus arteriosus, Cystocele, Knee osteoa...	OMIM:613795
Bilateral Polymicrogyria	Talipes equinovarus	ORPHA:268940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Oculoauricular Syndrome	Phthisis bulbi, Nasolacrimal duct obstruction, Macular hypoplasia, Microphakia, Microphthalmia, S...	OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Microphthalmia, Buphthalmos	OMIM:613150
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lacrimal duct atresia	OMIM:300952
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Holoprosencephaly 7	Occipital meningocele, Synophrys, Bilateral microphthalmos, Upslanted palpebral fissure, Shallow ...	OMIM:610828
Steinert Myotonic Dystrophy	Alopecia, Bilateral ptosis, Early balding, Shoulder girdle muscle weakness, Talipes equinovarus	ORPHA:273
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Growth delay, Polydactyly, Delayed puberty, Abnormal digit morphology, Median...	ORPHA:95494
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Femur fracture	OMIM:612301
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in...	OMIM:157170
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Microphthalmia, Ptosis	ORPHA:42775
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing	OMIM:259770
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Pallor	OMIM:253280
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c...	ORPHA:93325
Pmm2-Cdg	Pes planus, Epicanthus, Proteinuria, Long fingers, Upslanted palpebral fissure, Nephrotic syndrom...	ORPHA:79318
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus	OMIM:601374
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780

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 Fras1

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 Fras1.

No publications found that use IMPC mice or data for Fras1.

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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
Fras1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice, Tissue

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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