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Gene: Frem2 MGI:2444465

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Fras1 related extracellular matrix protein 2
Synonyms:
8430406N05Rik,  6030440P17Rik,  my,  ne,  b2b1562Clo

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 Frem2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Frem2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Cryptophthalmos OMIM:123570
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder, Cryptophthalmos OMIM:617666
Fraser Syndrome
Toe syndactyly, Lacrimal duct aplasia, Finger syndactyly, Conductive hearing impairment, Low-set,... ORPHA:2052

The table below shows human diseases predicted to be associated to Frem2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Cryptophthalmos OMIM:123570
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Ptosis ORPHA:1067
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Crossed Polysyndactyly
Postaxial hand polydactyly, Finger syndactyly, Upslanted palpebral fissure, Aplasia/Hypoplasia of... ORPHA:2935
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Facial Paresis, Hereditary Congenital, 1
Decreased corneal reflex OMIM:601471
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Nasopalpebral Lipoma-Coloboma Syndrome
Widow's peak, Upper eyelid coloboma, Lower eyelid coloboma, Ectopic lacrimal punctum, Abnormality... OMIM:167730
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma, Unilateral renal agenesis, Telecanthus OMIM:206750
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Oculotrichoanal Syndrome
Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Anophthalmia, Abnormal hair... ORPHA:2717
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Absent eyelashes, Absent eyebrow, Microtia, third degree, Short metacarpal, Talip... OMIM:200110
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Retinitis Pigmentosa 81
Pallor OMIM:617871
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder, Cryptophthalmos OMIM:617666
Dermochondrocorneal Dystrophy
Abnormality of the hand, Large hands, Corneal dystrophy ORPHA:79149
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Craniosynostosis, Philadelphia Type
Long palpebral fissure, Finger syndactyly ORPHA:1527
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow nasal ridge, Hypoplasia of the brainstem, Bulbous nose, Stillbirth, Choanal stenosis, Ante... OMIM:236500
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Chorioretinal hypopig... OMIM:106210
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, Long eyelashes, Partial duplication of eyebrows, Periorbital wrinkles, 2-4 fi... OMIM:227210
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract, Abnormality of the orbital region OMIM:223540
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Conductive hearing impairme... ORPHA:246
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... ORPHA:2779
Gms Syndrome
Rieger anomaly, Epicanthus, Tricuspid regurgitation, Small hand, Downslanted palpebral fissures, ... OMIM:138770
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Chromosome 2Q35 Duplication Syndrome
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Polydactyly, Postaxial, Type A6
Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract, Short thumb OMIM:274205
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Gms Syndrome
Downslanted palpebral fissures, Rieger anomaly, Epicanthus, Tricuspid regurgitation ORPHA:2090
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Chromosome 15Q13.3 Deletion Syndrome
Abnormality of the pinna, Synophrys, Abnormality of the palpebral fissures, Clinodactyly of the 5... OMIM:612001
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Renal insufficiency, Brachydactyly, Rod-cone dystrophy OMIM:615995
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia OMIM:615524
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Waardenburg Syndrome, Type 2A
Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, Hypoplastic iris stroma OMIM:193510
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Abnormal hair morphology, Bilateral microphthalmos, Low-set... OMIM:607597
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Los... ORPHA:163934
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Bardet-Biedl Syndrome 6
Polydactyly, Hypospadias, Syndactyly, Renal cyst OMIM:605231
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Fraser Syndrome 3
Cutaneous syndactyly, Cryptophthalmos, Short toe OMIM:617667
Wagr Syndrome
Cataract, Ptosis, Displacement of the urethral meatus, Aplasia/Hypoplasia of the iris ORPHA:893
Chondrodysplasia-Disorder Of Sex Development Syndrome
Chorioretinal coloboma, Short phalanx of finger, Blepharophimosis, Broad long bones, Hypoplasia o... ORPHA:1422
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Coloboma Of Macula-Brachydactyly Type B Syndrome
Chorioretinal coloboma, Camptodactyly of finger, Broad thumb, Short distal phalanx of finger, Typ... ORPHA:1471
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
15Q11Q13 Microduplication Syndrome
Downslanted palpebral fissures, Clinodactyly of the 5th finger, Epicanthus, Finger syndactyly ORPHA:238446
Bartsocas-Papas Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the eyebrow, Finger syndactyly, Ankyloblepharon, Corneal op... ORPHA:1234
Mandibulofacial Dysostosis With Mental Retardation
Downslanted palpebral fissures, Lower eyelid coloboma, Abnormality of the pinna, Abnormality of t... OMIM:248400
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Nivelon-Nivelon-Mabille Syndrome
Short phalanx of finger, Upslanted palpebral fissure, Hypoplasia of the iris, Short metacarpal, M... OMIM:600092
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Epicanthus, Synophrys, Thick ... ORPHA:3268
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Treacher Collins Syndrome 3
Conductive hearing impairment, Lower eyelid coloboma, Abnormality of the outer ear, Downslanted p... OMIM:248390
Nanophthalmos 4
Microphthalmia OMIM:615972
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Short nose, Abnor... OMIM:206920
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Horizontal eyebrow, Upslanted palpebral fissure, Hirsutism, 2-3 toe syndactyly, Long eyelashes, L... OMIM:618608
Trisomy 18-Like Syndrome
Blepharophimosis, Narrow palpebral fissure, Abnormality of the pinna, Low-set ears, Telecanthus OMIM:601161
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe, Short thumb, Brachydactyly OMIM:176305
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Stillbirth, Abnormal heart morphology, Polydactyly, Upper limb phocomel... ORPHA:294975
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Micropenis, Brachydactyly OMIM:615983
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Ankyloblepharon, Absent eyebrow, Alopecia totalis, Absent radius, Short ... OMIM:263650
White Forelock With Malformations
Atrial septal defect, Poliosis, Aplasia/Hypoplasia of the distal phalanges of the toes, White for... OMIM:277740
Woolly Hair
Cataract, Abnormal retinal morphology, Sparse lateral eyebrow, Abnormal pupil morphology ORPHA:170
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Short Syndrome
Abnormal pupil morphology, Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalo... ORPHA:3163
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital cyst, Anophthalmia, Microphthalmia, Alopecia, Eyelid coloboma OMIM:164180
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Unilateral renal agenesis, Corneal opacity, Telecanthus ORPHA:1064
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Absent extraocular muscles, Telecanthus, Abnormally prominent line of Schwalbe, H... OMIM:109120
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Fin... ORPHA:2251
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Aniridia, Finger syndactyly, Split hand ORPHA:2440
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Acromelic Frontonasal Dysostosis
Broad nasal tip, Choroid plexus cyst, Polydactyly, Hypoplasia of the corpus callosum, Ventriculom... OMIM:603671
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Biemond Syndrome Type 2
Hypospadias, Preaxial polydactyly, Hydrocephalus, Coloboma ORPHA:141333
Aniridia And Absent Patella
Aplasia/Hypoplasia of the patella, Cataract, Aniridia OMIM:106220
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Brushfield spots, Broad thumb, Aplasia/Hypoplasia of the eyebrow, Abnorm... ORPHA:1784
Distal Monosomy 6P
Abnormal anterior chamber morphology, Abnormality of epiphysis morphology, Anterior synechiae of ... ORPHA:96125
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Abnormality of the pinna, Clinodactyly, Synda... OMIM:183600
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Overlapping fingers, Cerebellar hypoplasia, Polymicrogyria, Externally rotated hips, Talipes equi... OMIM:616531
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Broad thumb, 1-3 toe syndactyly, Broad hallux phalanx, Trigonocephaly, Scaphoce... OMIM:175700
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Peters anomaly, Micr... OMIM:610023
Aniridia-Absent Patella Syndrome
Aplasia/Hypoplasia of the patella, Ptosis, Cataract, Aniridia ORPHA:1069
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus OMIM:615938
Barber-Say Syndrome
Ectropion, Atresia of the external auditory canal, Breast aplasia, Abnormality of the pinna, Hypo... ORPHA:1231
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Retinitis Pigmentosa 42
Pallor OMIM:612943
Pierson Syndrome
Hypoplasia of the ciliary body, Posterior lenticonus, Microcoria, Hypoplasia of the iris, Stage 5... OMIM:609049
Frontonasal Dysplasia 3
Low-set, posteriorly rotated ears, Upper eyelid coloboma, Absent eyebrow, Microphthalmia, Sparse ... OMIM:613456
Megalocornea-Intellectual Disability Syndrome
Epicanthus, Hypoplasia of the iris, Iridodonesis, Megalocornea, Genu varum, Metatarsus valgus, Do... ORPHA:2479
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Anophthalmia Plus Syndrome
Blepharophimosis, Low-set, posteriorly rotated ears, Anophthalmia, Aplasia/Hypoplasia of the earl... ORPHA:1104
Ablepharon Macrostomia Syndrome
Abnormality of skin pigmentation, Camptodactyly of finger, Toe syndactyly, Sparse hair, Absent ey... ORPHA:920
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Abnormality iris morphology, Cataract, Bullet-shaped dis... ORPHA:1617
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Toe syndactyly, Postaxial hand polydactyly, Broad thumb, Finger syndac... ORPHA:380
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Po... OMIM:617866
Frontofacionasal Dysplasia
Brushfield spots, Blepharophimosis, Upper eyelid coloboma, Iris coloboma, Cataract, Ptosis, Micro... ORPHA:1791
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Aortic regurgitation, Unilateral renal agenesis, Corneal opacity, Talipes... OMIM:616603
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Epicanthus, Long eyelashes, Cataract, Ectopia pupillae, Microcornea, Microphthalmia, ... OMIM:615877
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Zechi-Ceide Syndrome
Atrial septal defect, Short metatarsal, Small nail, Abnormal heart morphology, Thick hair, Conduc... ORPHA:217017
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Cataract, Conjunctivitis, Keratoconjunctivitis sicca, Keratitis, Microphthalmia, Corne... OMIM:278730
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Ventriculomegaly, Preaxial polydactyly, Postaxial polydactyly, Anenc... OMIM:614120
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon OMIM:602482
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hydronephrosis, Microphthalmia, Sclerocornea, Pelvic kidney, Eyelid colob... OMIM:613001
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Congenital diaphragmatic ... ORPHA:2258
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short d... OMIM:617927
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Donnai-Barrow Syndrome
Low-molecular-weight proteinuria, Iris coloboma, Retinal dystrophy, Hypoplasia of the iris, Catar... OMIM:222448
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, M... ORPHA:290
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, ... OMIM:615937
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Aniridia 2
Cataract, Aniridia OMIM:617141
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
D-Lactic Aciduria With Gout
Downslanted palpebral fissures, Aniridia, Lacticaciduria OMIM:245450
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal ero... OMIM:217800
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Camptodactyly, Sparse scalp hair, Syndactyly, Sparse and thin eyebrow, Joint contract... OMIM:225280
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Iris coloboma, Corneal opacity, Catarac... ORPHA:1473
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma, Conductive hearing impairment, Preauricula... OMIM:618939
WAGR 11p13 deletion syndrome
Aniridia, Renal neoplasm DECIPHER:35
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Piebaldism
Hypopigmentation of hair, White eyebrow, Heterochromia iridis, Synophrys, Wide nasal bridge, Hear... ORPHA:2884
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Nager Syndrome
Hypoplasia of the radius, Aplasia/Hypoplasia of the eyebrow, Low-set, posteriorly rotated ears, A... ORPHA:245
Manitoba Oculotrichoanal Syndrome
Abnormal hair morphology, Anophthalmia, Nasolacrimal duct obstruction, Microphthalmia, Eyelid col... OMIM:248450
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Horizontal eyebrow, 2-3 toe syndactyly, Epicanthus, Low-set ears, Posteriorly rotated ears, Clino... OMIM:619311
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Trisomy 13
Postaxial hand polydactyly, Multiple renal cysts, Abnormal eyelash morphology, Iris coloboma, Apl... ORPHA:3378
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Cataract, Polycystic kidney dysplasia, Hypoplasia of the retina OMIM:263100
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Anophthalmia, Abnormality of fibula morphology, Arthralgia o... ORPHA:93323
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency, Finger joint hypermobility, Palmoplantar... OMIM:615225
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypo... OMIM:616486
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
17Q21.31 Microduplication Syndrome
Toe syndactyly, Epicanthus, Synophrys, Sandal gap, Abnormality of the outer ear, Thick eyebrow, G... ORPHA:217340
Duane Retraction Syndrome
Aniridia, Optic disc hypoplasia, Camptodactyly, Iris coloboma, Absent radius, Triphalangeal thumb... ORPHA:233
Distal Monosomy 17Q
Abnormal thumb morphology, Low-set, posteriorly rotated ears, Micromelia, Upper limb asymmetry, M... ORPHA:1597
Bartsocas-Papas Syndrome 2
Axillary pterygium, Overfolded helix, Ankyloblepharon, Low-set ears, Small hand, Cutaneous syndac... OMIM:619339
Autosomal Recessive Primary Microcephaly
Upslanted palpebral fissure, Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Megalocornea-Mental Retardation Syndrome
Genu valgum, Epicanthus, Hypoplasia of the iris, Iridodonesis, Megalocornea, Downslanted palpebra... OMIM:249310
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Hy... ORPHA:42665
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst OMIM:615987
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina... ORPHA:280921
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Fraser Syndrome 1
Absent eyelashes, Lacrimal duct aplasia, Conductive hearing impairment, Upper eyelid coloboma, At... OMIM:219000
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Astigmatism, Abnormal pupil ... ORPHA:54
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Atrial septal defect, Underdeveloped nasal alae, Choanal atresia, Wide nasal bridge... ORPHA:521308
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Absent forearm, Overlapping toe, Deep-set nails, Wide nasal bridge, Posteriorly rot... OMIM:201170
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Congenital hip dislocation, Midface retrusion, Hypoplasia of the corpus call... OMIM:618291
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Partial albinism, Piebaldism, Congenital sensorineu... OMIM:300700
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Dextrocardia, Microphthalmia, Anophthalmia, Prominent nose OMIM:221950
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Camptodactyly... OMIM:300244
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm, Congenital diaphragmatic hernia ORPHA:261102
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Weakness of the intrinsic hand muscles OMIM:160565
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Sensorineural hearing impairment, Partial albi... ORPHA:998
Chromosome 8Q21.11 Deletion Syndrome
Blepharophimosis, Camptodactyly, Epicanthus, Low-set ears, Syndactyly, Short palpebral fissure, P... OMIM:614230
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Attenuation of retinal blood vessels, Postaxial polydact... OMIM:615986
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Corneal opacity ORPHA:281090
Axenfeld-Rieger Syndrome
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Hypospadias, Abnormal anterior chamber mor... ORPHA:782
Short Syndrome
Enlarged epiphyses, Rieger anomaly, Radial deviation of finger, Cataract, Megalocornea, Clinodact... OMIM:269880
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Low-set ears, Microphthalmia, Anophthalmia, ... OMIM:613885
Focal Dermal Hypoplasia
Split hand, Iris coloboma, Corneal opacity, Short clavicles, Renal hypoplasia/aplasia, Hypoplasti... ORPHA:2092
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Sparse and thin eyebrow, Alopecia, S... ORPHA:2722
Achondroplasia
Limited elbow extension, Frontal bossing, Trident hand, Rhizomelia, Midface retrusion, Megalencep... OMIM:100800
Otoonychoperoneal Syndrome
Abnormality of the antihelix, Abnormality of the nail, Macrotia, Upslanted palpebral fissure, Apl... ORPHA:2793
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Camptodactyly of finger, Scapular winging, Toe syndactyly, Spina bifida, Antevert... ORPHA:1327
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Lacrimal duct aplasia, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyl... DECIPHER:46
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Wilson-Turner Syndrome
Short foot, Thick eyebrow, Small hand, Broad nasal tip, Tapered finger, Microtia ORPHA:3459
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Fingernail dysplasia, Curved distal phalanges of the ha... ORPHA:3152
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microphthalm... OMIM:212550
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Corneal opacity, Osteolysis involving bones of the... OMIM:277950
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Catel-Manzke Syndrome
Camptodactyly of finger, Highly arched eyebrow, Atrial septal defect, Abnormality of epiphysis mo... ORPHA:1388
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus c... ORPHA:2570
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Shortening of all middle phalanges of the toes, Symphalan... ORPHA:93394
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Penile hypospadias, Swan neck-like deformities of the fingers, Penoscrotal h... ORPHA:329252
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Short Stature-Obesity Syndrome
Limb undergrowth, Brachydactyly, Narrow nose, Clinodactyly of the 5th finger, Prominent nasal bri... OMIM:269870
Intellectual Developmental Disorder, X-Linked 9
Abnormal distal phalanx morphology of finger, Long palpebral fissure, Macrotia OMIM:309549
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Preaxial polydactyly, Unilateral renal agenesis, Postaxial polydactyly, Brac... OMIM:618142
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Camptodactyly, Talipes equinovalgus, Adducted thumb, Sandal gap, Ulnar devia... OMIM:618435
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short phalanx of finger, Bulbous nose, Ventricular septal defect, Short nos... OMIM:613458
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Abnormality of the ear, Absent pigmentati... OMIM:172800
Trisomy 12P
Abnormality of the urinary system, Aplasia/Hypoplasia of the iris, Large hands, Epicanthus, Clino... ORPHA:1699
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Hypoplastic toenails, Moderate hearing impairment, ... ORPHA:370010
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hirsutism, Hypoplasia of the ulna, Synophrys, Low-set ears, Clinodactyly, Microtia, Wide nose ORPHA:357175
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Cataract, Hand monodactyly, Split foot, Retinopathy OMIM:183800
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Abnormality of the palmar creases, Primary congenital glaucoma, Rieger anomaly, Neph... ORPHA:521445
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Convex nasal ridge, Cone-shaped epiphyses of the phalanges of the hand, Frontal bossing, Small ha... ORPHA:85172
Richieri-Costa/Guion-Almeida Syndrome
Palmoplantar cutis laxa, Iris coloboma, Abnormal digit morphology, Ptosis, Eyelid coloboma, Downs... OMIM:268850
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Hypomelanosis Of Ito
Hand polydactyly, Iris coloboma, Epicanthus, Radial deviation of finger, Cataract, Clinodactyly, ... OMIM:300337
Endocrine-Cerebroosteodysplasia
Polydactyly, Natal tooth, Postaxial polydactyly, Sandal gap, Ulnar deviation of the hand, Micrope... OMIM:612651
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Laurence-Moon Syndrome
Hand polydactyly, Finger syndactyly, Iris coloboma, Epicanthus, Bilateral single transverse palma... ORPHA:2377
Pallister-Hall Syndrome
Y-shaped metacarpals, Atresia of the external auditory canal, Choanal atresia, Mesoaxial foot pol... OMIM:146510
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Hypoplasia of the lacrimal punctum, Vesicoureteral reflux, Short thu... ORPHA:2363
Johnson Neuroectodermal Syndrome
Preaxial hand polydactyly, Hand polydactyly, Bulbous nose, Sparse hair, Absent eyelashes, Conduct... ORPHA:2316
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Hypertension, Bowing of the legs, Retinal detachment, Short lower limbs, Telangiectasia OMIM:219250
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Renal cyst, Bilateral triphalangeal thumbs OMIM:138790
Meckel Syndrome, Type 10
Frontal bossing, Postaxial polydactyly, Anencephaly, Renal cyst, Hypospadias, Micropenis OMIM:614175
20P12.3 Microdeletion Syndrome
Thickened helices, Atrial septal defect, Broad thumb, Wolff-Parkinson-White syndrome, Broad hallu... ORPHA:261295
Cenani-Lenz Syndrome
Oligodactyly, Absent toenail, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Sh... ORPHA:3258
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyl... ORPHA:1908
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Epicanthus, Cataract, Short thumb, Short metacarpal ORPHA:2489
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Absent toenail, Hypoplastic toenails, Toe syndactyly, Anonychia, Symphal... ORPHA:1113
Galloway-Mowat Syndrome 1
Renal insufficiency, Focal segmental glomerulosclerosis, Camptodactyly, Epicanthus, Hypoplasia of... OMIM:251300
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus mo... ORPHA:39044
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonary artery atresia, Tetralogy of Fa... OMIM:618780
Dubowitz Syndrome
Blepharophimosis, Iris coloboma, Epicanthus, Hypoplasia of the iris, Megalocornea, Syndactyly, Sh... OMIM:223370
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Rieger anomaly, Upslanted palpebral fissure, Synophrys, Radial deviation o... OMIM:270450
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Optic atrophy, Corneal dystrophy ORPHA:2572
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Iris coloboma, Corneal opacity, ... ORPHA:1647
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Renal hypoplasia, Hypoplasia of the ulna, Syndactyly, Downslanted palpe... OMIM:212780
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Postaxial pol... OMIM:614500
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Autoinflammation With Arthritis And Dyskeratosis
Uveitis, Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization, Palmoplantar... OMIM:617388
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormality of epiphysis morphology, Rhizomelia, Hemiatrophy, Scarring alopecia of... ORPHA:35173
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Mental Retardation, Autosomal Recessive 35
Hirsutism, Hypoplasia of the ulna, Synophrys, Low-set ears, Clinodactyly, Microtia, Wide nose OMIM:615162
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,... OMIM:180500
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
3-4 toe syndactyly, Unilateral narrow palpebral fissure, Sandal gap, Ectopia pupillae, Clinodacty... OMIM:618727
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Talipes equinovarus, Microphthalmia, Rocker bottom foot OMIM:616570
Weiss-Kruszka Syndrome
Highly arched eyebrow, Short nose, Anteverted nares, Ventricular septal defect, Overfolded helix,... OMIM:618619
Hec Syndrome
Developmental cataract, Arrhythmia, Abnormal retinal vascular morphology, Abnormal pupil morpholo... ORPHA:2119
Adams-Oliver Syndrome 3
Short metatarsal, Blepharophimosis, 2-3 toe syndactyly, Short distal phalanx of finger, Absent to... OMIM:614814
Dermoids Of Cornea
Corneal opacity OMIM:304730
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia... ORPHA:280914
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Hip dysplasia, Genu valgum, Acetabular dysplasia, Talipes equinovarus, Coxa valga OMIM:613618
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta, Micr... ORPHA:64754
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Sparse hair, Finger syndactyly, Ungual fibroma, Sparse or ab... ORPHA:1433
Heterotaxy, Visceral, 4, Autosomal
Right aortic arch OMIM:613751
Mosaic Trisomy 14
Camptodactyly of finger, Anteverted nares, Low-set, posteriorly rotated ears, Bilateral single tr... ORPHA:1703
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Iris coloboma, Anencephaly, Abnorma... ORPHA:1590
Heyn-Sproul-Jackson Syndrome
Sparse hair, Short phalanx of finger, Epicanthus, Short metacarpal, Broad phalanx, Broad metacarpals OMIM:618724
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma, Retinal dystrophy, Microcornea OMIM:615147
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Pes cavus, Talipes equinovarus, Adducted thumb, Microcephaly, Ag... OMIM:303350
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Mullegama-Klein-Martinez Syndrome
Low anterior hairline, Bulbous nose, Polydactyly, High anterior hairline, Wide nasal bridge, Low-... OMIM:301022
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Finger syndactyly, Synostosis of carpal bones, Capitate-hamate fusio... OMIM:102510
Ophthalmoplegia, Familial Static
Ptosis, Anisocoria OMIM:165000
3Q29 Microduplication Syndrome
Aniridia, Toe syndactyly, Camptodactyly of toe, Iris coloboma, Sandal gap, Cataract, Microphthalm... ORPHA:251038
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Frontal bossing, Cerebellar hypoplasia, Dolichocephaly, Hydrocephalus, ... ORPHA:1538
Bazex-Dupré-Christol Syndrome
Hypoplasia of the ear cartilage, Sparse hair, Abnormality of finger, Macrotia, Coarse hair, Spars... ORPHA:113
Craniotelencephalic Dysplasia
Craniosynostosis, Hydrocephalus, Frontal bossing, Arrhinencephaly, Cerebellar hypoplasia, Septo-o... ORPHA:1528
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Photoreceptor layer loss on macular OCT, Macular scar, Attenua... ORPHA:179
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Preaxial hand polydactyly, Atrial septal defect, Short nose, Absent... ORPHA:79113
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Abnormal metatarsal morphology, Anteverted nares, Hypoplastic pelvis, Broad long ... ORPHA:163654
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Short nose, Urogenital sinus anomaly, Absent septum pellucidum, Chor... OMIM:618820
Potocki-Shaffer Syndrome
Wormian bones, Short nose, Underdeveloped nasal alae, Micropenis, Parietal foramina, Single trans... OMIM:601224
Coxoauricular Syndrome
Hearing impairment, Hip dislocation, Microtia OMIM:122780
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Congenital onychodystrophy, Absent eyelashes, Palmoplantar keratoderma, Absent e... ORPHA:2890
Burn-Mckeown Syndrome
Blepharophimosis, Conductive hearing impairment, Lower eyelid coloboma, 2-3 toe syndactyly, Short... OMIM:608572
Filippi Syndrome
Sparse hair, Underdeveloped nasal alae, Ventricular septal defect, Finger clinodactyly, Wide nasa... OMIM:272440
Desbuquois Syndrome
Abnormal femoral neck/head morphology, Camptodactyly of finger, Radioulnar synostosis, Sparse hai... ORPHA:1425
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Myelomeningocele, Anteverted nares, Short nose, Choanal atresia, Short dist... ORPHA:1914
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Congenital hip dislocation, Radioulnar synostosis, Ectropion, Conductiv... OMIM:263750
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Toe syndactyly, Radioulnar synostosis, Iris coloboma, Epicanthus, Abnorma... ORPHA:921
Acrocephalopolydactyly
Short nose, Limb undergrowth, Short long bone, Brachydactyly, Microtia ORPHA:221054
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Broad thumb, Hirsutism, Long eyelashes, Syndactyly, Downslanted palpebral fi... OMIM:613684
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Chromosome 13Q33-Q34 Deletion Syndrome
Camptodactyly, Choanal atresia, Anencephaly, Trigonocephaly, Short thumb, Small thenar eminence, ... OMIM:619148
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Conductive hearing impairment, Joint contracture of the 5th finger, Wi... OMIM:248910
Waardenburg Syndrome, Type 1
Heterochromia iridis, Blepharophimosis, White eyebrow, Synophrys, Hypopigmentation of the fundus,... OMIM:193500
Waardenburg Syndrome, Type 2E
Heterochromia iridis, White eyebrow, Ocular albinism, Hypoplasia of the iris, Hypopigmentation of... OMIM:611584
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Spina bifida, Bilateral external ear deformity, ... ORPHA:2839
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Anteverted nares, Broad palm, Recurrent upper respiratory tract infec... OMIM:300209
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Pear-shaped nose, Preaxial hand polydactyly, Sparse hair, Widow's peak, Interphalangeal joint con... OMIM:606242
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Craniosynostosis, Toe syndactyly, Radioulnar synostosis, Sh... ORPHA:171839
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Brachydactyly OMIM:613195
Nephronophthisis 11
Nephronophthisis, Anisocoria, Polyuria, Retinal degeneration, Renal tubular atrophy, Renal cortic... OMIM:613550
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, Broad thumb, Sparse eyebrow, High anterior hairline, 2-3 toe syndactyly, U... OMIM:600987
Ring Chromosome 8 Syndrome
Short nose, Frontal bossing, Abnormality of the ureter, Hydronephrosis, Anteverted nares, Deviati... ORPHA:1450
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Hydrocephalus, Dislocated radial he... OMIM:260660
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Low anterior hairline, Bulbous nose, Anteverted nares, Anophthalmia, Long eyelashes, Synophrys, T... ORPHA:411986
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Even-Plus Syndrome
Highly arched eyebrow, Atrial septal defect, Short nose, Sparse hair, Synophrys, Patent foramen o... OMIM:616854
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma, Hydrocephalus OMIM:210350
Sweeney-Cox Syndrome
Generalized hirsutism, Overfolded helix, Widow's peak, Upper eyelid coloboma, Low-set ears, Cuppe... OMIM:617746
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Preaxial hand polydactyly, Conductive hearing impairment,... ORPHA:2549
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, Short 5th finger OMIM:300577
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hearing impairment, Hip dislocation, Narrow palpebral fissure, Bilateral microphthalmos OMIM:608763
Mucoepithelial Dysplasia, Hereditary
Hematuria, Melena, Cataract, Opacification of the corneal stroma, Corneal neovascularization, Ker... OMIM:158310
Adams-Oliver Syndrome 4
Atrial septal defect, Hypoplastic toenails, Ventricular septal defect, Umbilical hernia, Toenail ... OMIM:615297
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Hartsfield Syndrome
Split hand, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the radius, Ptosis, Micropht... ORPHA:2117
Progeroid Facial Appearance With Hand Anomalies
Sparse hair, Conductive hearing impairment, Joint contracture of the 5th finger, Cutaneous finger... OMIM:602249
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Oculodentodigital Dysplasia, Autosomal Recessive
4-5 finger syndactyly, Persistent pupillary membrane, Broad long bones, Epicanthus, 2-4 toe cutan... OMIM:257850
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Lower eyelid coloboma, Low-set ears, Cupped ear, Stenosis of the e... OMIM:616367
Triopia
Abnormal eyebrow morphology, Blepharophimosis, Iris coloboma, Microcornea, Abnormal pupil morphology ORPHA:3374
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Camptodactyly, Contractures involving the joints of the feet, Joint contractu... OMIM:614335
Neurofaciodigitorenal Syndrome
Abnormality of the elbow, Unilateral renal agenesis, Epicanthus, Abnormality of the metacarpal bo... ORPHA:2673
6Q16 Microdeletion Syndrome
Bulbous nose, Anteverted nares, Abnormal ear morphology, Low-set ears, Thick eyebrow, Tapered fin... ORPHA:171829
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Renal cyst, Brachydactyly OMIM:615982
Spastic Paraplegia 47, Autosomal Recessive
Abnormal periventricular white matter morphology, Bulbous nose, Genu recurvatum, Hypoplasia of th... OMIM:614066
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Melanocytic nevus, Sparse scalp hair, Hearing impairment, Alopecia u... ORPHA:1008
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Palmoplantar keratoderma, Macrotia, Syndactyly, Cardiomegaly OMIM:613576
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Craniosynostosis, Finger sy... ORPHA:65759
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Heterochromia iridis, Premature graying of hair, Bleph... OMIM:148820
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Broad thumb, Sparse hair, Anteverted nares, Posteriorly rotated ears, Low-set ears, Sensorineural... OMIM:617763
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Foveal hyperpigmentation, Optic nerve misrouting, Microp... OMIM:609218
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Lacrimal punctal atresia, Abnormality of cartilage of external ear, Sparse ey... ORPHA:2399
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hearing abnormality, Hypoplasia of the ulna, Ocular albinism, Wide... ORPHA:1352
Neu-Laxova Syndrome 1
Rocker bottom foot, Toe syndactyly, Absent eyelashes, Finger syndactyly, Camptodactyly, Limb unde... OMIM:256520
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Macrotia, Low-set, posteriorly rotated ears, Abnormality of the tragu... ORPHA:66625
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Short nose, Frontal bossing, Hypoplasia of the corpus callosum, Ventr... ORPHA:217385
Camptobrachydactyly
Hand polydactyly, Congenital finger flexion contractures, Urinary incontinence, Syndactyly, Short... OMIM:114150
Pierpont Syndrome
Uplifted earlobe, Deep palmar crease, Macrotia, Short finger, High anterior hairline, Narrow palp... ORPHA:487825
Fraser Syndrome
Toe syndactyly, Lacrimal duct aplasia, Finger syndactyly, Conductive hearing impairment, Low-set,... ORPHA:2052
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Cerebellar hypoplasia, Hydranencephaly... OMIM:605013
1Q21.1 Microduplication Syndrome
Hip dysplasia, Frontal bossing, Hypospadias, Talipes equinovarus, Hip dislocation, Hydrocephalus ORPHA:250994
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Anterior polar cataract, Genu valgum, Broad distal phalanx of finger, Hydroureter, Bilateral rena... OMIM:619194
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Hearing impairment, Pt... ORPHA:895
Ring Chromosome 6 Syndrome
Low posterior hairline, Epicanthus, Macrotia, Short distal phalanx of finger ORPHA:1448
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... ORPHA:3250
Blepharo-Cheilo-Odontic Syndrome
Abnormal eyelid morphology, Abnormal hair quantity, Finger syndactyly, Conductive hearing impairm... ORPHA:1997
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Preaxial hand polydactyly, Abnormal thumb morphology, Atrial s... ORPHA:1120
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Ventricular septal defect, Low-set, posteriorly rotated ears, Atresia of the externa... ORPHA:1770
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Upslanted palpebral fissure, Epicanthus, Microphthalmia ORPHA:2528
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Hearing impairment, Syndactyly, Pulmonary lymphangiectasia, Pericardial lymphangie... OMIM:616006
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Macrotia, Upslanted palpebral fissure, 2-3 toe syndactyly, Synophrys, Clinodactyly, Thick eyebrow... OMIM:617061
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Short metacar... OMIM:226900
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Microphthalmia, Talipes equinovarus, Anteverted nares, Microtia, Depressed nas... OMIM:612530
Moebius Syndrome
Abnormality of the nail, Short phalanx of finger, Split hand, Camptodactyly, Epicanthus, Aplasia/... OMIM:157900
Summitt Syndrome
Syndactyly OMIM:272350
Laurin-Sandrow Syndrome
Tarsal synostosis, Underdeveloped nasal alae, Abnormality of the metacarpal bones, Absent radius,... ORPHA:2378
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Agenesis of corpus callosum, Short nose, Midface retrusion, Hypoplasia of the corpus callosum, Ve... OMIM:618577
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Low-set ears, Forearm undergrowth, Absent radius, Pulmonar... OMIM:251230
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Hypoplasia of the... OMIM:600123
Coffin-Siris Syndrome 3
Sparse hair, Abnormal heart morphology, Aplasia/Hypoplasia of the distal phalanges of the hand, H... OMIM:614608
Maxillofacial Dysostosis
Downslanted palpebral fissures, Abnormality of the pinna OMIM:155000
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Postaxial hand polydactyly, Talipes, Calvaria... ORPHA:945
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Unilateral renal agenesis, Short distal phalanx of finger, Hydranencep... OMIM:601355
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Arrhinencephaly, Aplasia/Hypoplasia of the radius, Aque... ORPHA:1788
Arthrogryposis, Distal, Type 7
Cutaneous syndactyly of toes, Metatarsus adductus, Talipes equinovarus, Hip dislocation, Hammertoe OMIM:158300
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Short nose, Symphalangism affecting the phalanges of the hand, Microphth...