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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:
6030440P17Rik,  my,  b2b1562Clo,  ne,  8430406N05Rik

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
Cryptophthalmos, Ankyloblepharon OMIM:123570
Fraser Syndrome 2
Renal agenesis, Renal hypoplasia, Aplasia of the bladder, Cryptophthalmos OMIM:617666
Fraser Syndrome
Toe syndactyly, Anophthalmia, Finger syndactyly, Cryptophthalmos, Conductive hearing impairment, ... ORPHA:2052

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypo... ORPHA:2334
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Cataract, Corneal opacity, Ptosis, Aplasia/Hypoplasia of the iris ORPHA:1067
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Crossed Polysyndactyly
Upslanted palpebral fissure, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of pe... ORPHA:2935
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Nasopalpebral Lipoma-Coloboma Syndrome
Widow's peak, Ectopic lacrimal punctum, Cupped ear, Absent lacrimal punctum, Low-set ears, Clinod... OMIM:167730
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Telecanthus, Aniridia, Developmental glaucoma OMIM:206750
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly 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
Anophthalmia, Cryptophthalmos, Abnormal hair pattern, Nasolacrimal duct obstruction, Microphthalm... ORPHA:2717
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
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Cryptophthalmos, Absent eyelashes, Short metacarpal, Ablepharon, Absent eyebrow, ... OMIM:200110
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Dermochondrocorneal Dystrophy
Abnormality of the hand, Large hands, Corneal dystrophy ORPHA:79149
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Fraser Syndrome 2
Renal agenesis, Renal hypoplasia, Aplasia of the bladder, Cryptophthalmos OMIM:617666
Retinitis Pigmentosa 81
Pallor OMIM:617871
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Optic disc hypoplasia, Periphera... ORPHA:137902
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Craniosynostosis, Philadelphia Type
Long palpebral fissure, Finger syndactyly ORPHA:1527
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Narrow nasal ridge, Renal cyst, Single transverse palmar crease, 2-3 toe syndactyl... OMIM:236500
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Corneal neovascularization, Abnormal cornea morphology, Punctate... ORPHA:70476
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Partial duplication of eyebrows, Periorbital wrinkles, 2-3 toe syndactyly, Long eyelashes, 2-4 fi... OMIM:227210
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Dwarfism, Mental Retardation, And Eye Abnormality
Nuclear cataract, Abnormality of the orbital region, Hypoplasia of the iris OMIM:223540
Gms Syndrome
Short palm, Downslanted palpebral fissures, Rieger anomaly, Small hand, Epicanthus, Tricuspid reg... OMIM:138770
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Blepharospasm, Co... ORPHA:171673
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, White forelock, Osteopathia striata, Abnormality of... ORPHA:2779
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract, Short thumb OMIM:274205
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Postaxial Acrofacial Dysostosis
Cupped ear, Hypoplasia of the ulna, Finger syndactyly, Conductive hearing impairment, Supernumera... ORPHA:246
Polydactyly, Postaxial, Type A6
Broad phalanges of the 5th finger, Postaxial hand polydactyly OMIM:615226
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Gms Syndrome
Downslanted palpebral fissures, Tricuspid regurgitation, Rieger anomaly, Epicanthus ORPHA:2090
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Low-set ears, Abnormal hair morphology, Hyperpigmented nevi... OMIM:607597
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia OMIM:615524
Bardet-Biedl Syndrome 18
Brachydactyly, Cataract, Rod-cone dystrophy, Renal insufficiency, Retinal dystrophy OMIM:615995
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Waardenburg Syndrome, Type 2A
White eyebrow, Heterochromia iridis, White eyelashes, Hypoplastic iris stroma, Synophrys OMIM:193510
Atopic Keratoconjunctivitis
Blepharitis, Corneal opacity, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Keratitis,... ORPHA:163934
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Fraser Syndrome 3
Cryptophthalmos, Short toe, Cutaneous syndactyly OMIM:617667
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Chondrodysplasia-Disorder Of Sex Development Syndrome
Chorioretinal coloboma, Abnormality of pelvic girdle bone morphology, Hypoplasia of the iris, Sho... ORPHA:1422
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Ptosis ORPHA:893
Bardet-Biedl Syndrome 6
Renal cyst, Syndactyly, Hypospadias, Polydactyly OMIM:605231
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Upslanted palpebral fissure, 2-3 toe syndactyly, Low-set ears, Long eyelashes, Thick eyebrow, Cli... OMIM:618608
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
15Q11Q13 Microduplication Syndrome
Downslanted palpebral fissures, Clinodactyly of the 5th finger, Finger syndactyly, Epicanthus ORPHA:238446
Coloboma Of Macula-Brachydactyly Type B Syndrome
Renal agenesis, Chorioretinal coloboma, Type B brachydactyly, Short distal phalanx of finger, Bro... ORPHA:1471
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Bartsocas-Papas Syndrome
Absent thumb, Toe syndactyly, Popliteal pterygium, Finger syndactyly, Aplasia/Hypoplasia of the e... ORPHA:1234
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Thick eyebrow, Clinodactyly of the 5th finger, Radioulnar synostosis, Synophry... ORPHA:3268
Nanophthalmos 4
Microphthalmia OMIM:615972
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Intermediate Uveitis
Band keratopathy, Optic neuritis, Macular scar, Vitreous haze, Cataract, Cystoid macular edema, T... ORPHA:279914
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Acromelic Frontonasal Dysostosis
Broad nasal tip, Agenesis of corpus callosum, Bifid nasal tip, Choroid plexus cyst, Hypopituitari... OMIM:603671
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Micropenis, Polydactyly OMIM:615983
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Glandular hypospadias, Short thumb, Postaxial hand polydactyly, Short 2nd toe OMIM:176305
Treacher Collins Syndrome 3
Abnormality of the outer ear, Conductive hearing impairment, Microtia, Lower eyelid coloboma, Dow... OMIM:248390
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Polydactyly, Abnormal heart morphology, Upper limb phoc... ORPHA:294975
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Upslanted palpebral fissure, Absent palmar crease, Pterygium, Ablephar... OMIM:263650
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Pierson Syndrome
Diffuse mesangial sclerosis, Uveal ectropion, Hypoplasia of the ciliary body, Nephrotic syndrome,... OMIM:609049
Short Syndrome
Brachydactyly, Abnormal anterior chamber morphology, Short palm, Hypoplasia of the iris, Posterio... ORPHA:3163
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology, Sparse lateral eyebrow ORPHA:170
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Oculocerebrocutaneous Syndrome
Orbital cyst, Anophthalmia, Congenital hip dislocation, Eyelid coloboma, Microphthalmia, Alopecia OMIM:164180
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Coxa valga, Rieger anomaly, Telecanthus, Hip dislocation, ... OMIM:109120
Microphthalmia With Limb Anomalies
Toe syndactyly, Anophthalmia, Single transverse palmar crease, Hand oligodactyly, Low-set ears, F... OMIM:206920
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly, Postaxial... OMIM:614120
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Developmental glaucoma, Corneal opacity, Aniridia, Telecanthus ORPHA:1064
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Hypopigmented skin patches, Triphalangeal thumb, Ony... ORPHA:2251
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand ORPHA:2440
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb, Talipes equinovarus OMIM:613681
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Gillespie Syndrome
Aniridia, Hypoplasia of the iris OMIM:206700
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Biemond Syndrome Type 2
Coloboma, Preaxial polydactyly, Hypospadias, Hydrocephalus ORPHA:141333
Aniridia And Absent Patella
Cataract, Aniridia, Aplasia/Hypoplasia of the patella OMIM:106220
Acrofrontofacionasal Dysostosis
Brachydactyly, Camptodactyly of finger, Abnormality of epiphysis morphology, Aplasia/Hypoplasia o... ORPHA:1784
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Short palm, Abn... ORPHA:96125
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, ... OMIM:610023
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Aplasia/Hypoplasia of the patella, Ptosis ORPHA:1069
Greig Cephalopolysyndactyly Syndrome
Metopic synostosis, Camptodactyly of toe, Broad hallux, Postaxial hand polydactyly, Delayed crani... OMIM:175700
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Cataract, Downslanted palpebral fissu... ORPHA:1617
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Megalocornea-Intellectual Disability Syndrome
Genu varum, Abnormal anterior chamber morphology, Metatarsus valgus, Iridodonesis, Hypoplasia of ... ORPHA:2479
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Frontonasal Dysplasia 3
Absent eyebrow, Low-set, posteriorly rotated ears, Microphthalmia, Sparse eyelashes, Upper eyelid... OMIM:613456
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Nivelon-Nivelon-Mabille Syndrome
Brachydactyly, Upslanted palpebral fissure, Hypoplasia of the iris, Short metacarpal, Short phala... OMIM:600092
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Barber-Say Syndrome
Generalized hirsutism, Ablepharon, Aplasia/Hypoplasia of the eyebrow, Atresia of the external aud... ORPHA:1231
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hidrotic Ectodermal Dysplasia
Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, Hyperpigmentation of the skin, Alo... ORPHA:189
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Developmental cataract, Aortic regurgitation, Corneal opacity, Adducte... OMIM:616603
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Apla... OMIM:609432
Frontofacionasal Dysplasia
Absent inner eyelashes, Blepharophimosis, Aplasia/Hypoplasia of the eyebrow, Microcornea, Catarac... ORPHA:1791
Ablepharon Macrostomia Syndrome
Toe syndactyly, Abnormality of skin pigmentation, Cryptophthalmos, Absent eyelashes, Ablepharon, ... ORPHA:920
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Long eyelashes, Sclerocornea, Microcornea, Cataract, Rhizomelia, Microphthalmia, Ec... OMIM:615877
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Sclerocornea, Hydronephrosis, Eyeli... OMIM:613001
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Craniosynostosis, Finger syndactyly, Agenesis of corpus callosum, Postaxial foot ... ORPHA:380
Meckel Syndrome, Type 8
Anophthalmia, Low-set ears, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Talipes equi... OMIM:613885
Weill-Marchesani Syndrome 4
Brachydactyly, Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Postaxial hand polydactyly, Megalencephaly, Hydrocephalus, Polymicrogyria OMIM:615938
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Anophthalmia Plus Syndrome
Anophthalmia, Deviation of finger, Eyelid coloboma, Low-set, posteriorly rotated ears, Aplasia/Hy... ORPHA:1104
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Xeroderma Pigmentosum, Complementation Group D
Cataract, Telangiectasia, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia,... OMIM:278730
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Clinodactyly, 2-3 toe syndactyly, Low-set ears, Ptosis, Posteriorly rotated ears, Horizontal eyeb... OMIM:619311
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Orofaciodigital Syndrome Xviii
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Wide nasal brid... OMIM:617927
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microphthalmia, Aplasia/Hypoplasi... ORPHA:290
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Retinal dystrophy, Cataract OMIM:610156
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Hematuria, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacit... ORPHA:1473
D-Lactic Aciduria With Gout
Downslanted palpebral fissures, Lacticaciduria, Aniridia OMIM:245450
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Mandibulofacial Dysostosis With Mental Retardation
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248400
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly OMIM:610140
Macular Dystrophy, Corneal
Macular dystrophy, Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse eyebrow, Syndactyly, Sparse eyelashes, Sparse scalp hair, Camptodactyly, Split hand, Joint... OMIM:225280
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Conductive hearing impairment, Preauricular hair displacement, Lo... OMIM:618939
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
WAGR 11p13 deletion syndrome
Renal neoplasm, Aniridia DECIPHER:35
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Meckel Syndrome, Type 10
Renal cyst, Occipital encephalocele, Micropenis, Anencephaly, Frontal bossing, Postaxial polydact... OMIM:614175
White Forelock With Malformations
Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Pol... OMIM:277740
Trisomy 13
Anophthalmia, Abnormality of the ureter, Abnormality of pelvic girdle bone morphology, Optic atro... ORPHA:3378
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Abnormal hair morphology, Nasolacrimal duct obstruction, Eyelid coloboma, Microphth... OMIM:248450
Nager Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the eyebrow, Atresia of the ex... ORPHA:245
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalencephaly, Postaxial hand polydacty... OMIM:615937
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Popliteal pterygium, Low-set ears, Antecubital pterygium, Absent... OMIM:619339
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Finger joint hypermobility, Palmoplantar keratoderma, Limbal stem cel... OMIM:615225
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Donnai-Barrow Syndrome
Proteinuria, Hypoplasia of the iris, Short sternum, Cataract, Retinal detachment, Downslanted pal... OMIM:222448
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Abnormal morphology of ulna, Short tibia, Short toe, Arthralgia... ORPHA:93323
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Upslanted palpebral fissure, Vesicoureteral reflux ORPHA:2512
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Megalocornea-Mental Retardation Syndrome
Iridodonesis, Hypoplasia of the iris, Downslanted palpebral fissures, Arachnodactyly, Epicanthus,... OMIM:249310
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Zechi-Ceide Syndrome
Small nail, Abnormal helix morphology, Low-set ears, Atrial septal defect, Conductive hearing imp... ORPHA:217017
17Q21.31 Microduplication Syndrome
Abnormality of the outer ear, Toe syndactyly, Generalized hirsutism, Thick eyebrow, Sandal gap, C... ORPHA:217340
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Distal Monosomy 17Q
Abnormal hip bone morphology, Abnormal thumb morphology, Upper limb asymmetry, Deviation of finge... ORPHA:1597
Duane Retraction Syndrome
Central heterochromia, Ptosis, Hypoplastic iris stroma, Brachydactyly, Absent radius, Microcornea... ORPHA:233
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Cataract, Polycystic kidney dysplasia, Microcoria, Retinal dystrophy OMIM:263100
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Lacrimal duct aplasia, Cutaneous finger syndactyly, Split han... DECIPHER:46
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Metaphyseal spurs, Narrow greater sciatic notch, Brachydactyly, Bowing of the l... ORPHA:85167
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Hand clenching, Talipes equ... OMIM:619501
Hypotrichosis 1
Sparse eyebrow, Sparse body hair, Sparse pubic hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Progressive microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly, Hypoplasia of th... OMIM:616486
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Congenital sensorineural hearing ... OMIM:300700
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar hypoplasia, Abnormal foot morphology, Overlapping fingers, Congenital hip dislocation,... OMIM:618291
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Terminal Osseous Dysplasia
Brachydactyly, Abnormality of skin pigmentation, Toe clinodactyly, Camptodactyly of finger, Low-s... OMIM:300244
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Low-set ears, Sensorineural hearing impairment, Ptosis, Downslanted palp... OMIM:614230
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Ocu... ORPHA:54
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Talipes, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hyp... ORPHA:1908
Fraser Syndrome 1
Cupped ear, Anophthalmia, Cryptophthalmos, Low-set ears, Absent eyelashes, Conductive hearing imp... OMIM:219000
Focal Dermal Hypoplasia
Upper limb asymmetry, Hydronephrosis, Multicystic kidney dysplasia, Telangiectasia of the skin, C... ORPHA:2092
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Abnormal pupil morphology OMIM:160565
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Brachydactyly, Type A1, C
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Bardet-Biedl Syndrome 9
Brachydactyly, Retinal degeneration, Postaxial foot polydactyly, Postaxial polydactyly, Cataract,... OMIM:615986
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the thumb, Anencephaly, Iris col... ORPHA:1590
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Sensorineural hearing impairment, Partial albin... ORPHA:998
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Microphthalmia, Low-set ears OMIM:616570
Bazex-Dupré-Christol Syndrome
Hypoplasia of the ear cartilage, Coarse hair, Pili torti, Sparse eyebrow, Trichorrhexis nodosa, S... ORPHA:113
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Short Syndrome
Clinodactyly, Cataract, Enlarged epiphyses, Rieger anomaly, Telecanthus, Megalocornea, Radial dev... OMIM:269880
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Tele... ORPHA:782
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Corneal opacity, Renal insufficiency ORPHA:281090
Craniotelencephalic Dysplasia
Craniosynostosis, Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Fron... ORPHA:1528
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Congenital Microcoria
Developmental cataract, Astigmatism, Iris transillumination defect, Corneal stromal edema, Hypopl... ORPHA:566
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Odonto-Onycho Dysplasia-Alopecia Syndrome
Palmoplantar keratoderma, Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Spars... ORPHA:2722
Sclerosteosis
Finger syndactyly, Sensorineural hearing impairment, Diaphyseal thickening, Ptosis, Fingernail dy... ORPHA:3152
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Atrial septal defect, Clinodactyly of the 5th finger, Oligodactyly, ... ORPHA:521308
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Sandal gap, Overlapping fingers, Tapered finger, Broad hallux, Metat... OMIM:618435
Achondroplasia
Brachydactyly, Genu varum, Bowing of the legs, Trident hand, Short femoral neck, Rhizomelia, Midf... OMIM:100800
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Hypoplasia of the iris, Posterior embryotoxon, ... OMIM:180500
Brachydactyly Type A4
Shortening of all middle phalanges of the toes, Symphalangism affecting the phalanges of the hand... ORPHA:93394
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Short palpebral fissure, Recurrent otitis media, Single transverse palmar crease, ... ORPHA:370010
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Dolichocephaly, Cerebellar hypoplasia, Overlapping fingers, Perisylvian polymicrogyria, Externall... OMIM:616531
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Broad hallux, Cubitus valgus, Humeroradial synostosis, Broad th... OMIM:612961
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Single transverse palmar crease, Low-set ears, Fibular hypoplasia, Triphalangeal th... OMIM:201170
Piebald Trait
Abnormality of the ear, Heterochromia iridis, Absent pigmentation of the ventral chest, White for... OMIM:172800
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Abnormal foot morphology, Preaxial polydactyly, Microcephaly, ... ORPHA:64754
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Unilateral renal agenesis, Micropenis, Overlapping fingers, Preaxi... OMIM:618142
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Slender finger, Nephrotic syndrome, Opacification of the corneal str... OMIM:251300
Trisomy 12P
Thick eyebrow, Clinodactyly of the 5th finger, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypo... ORPHA:1699
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot poly... ORPHA:2091
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Calcaneovalgus deformity, Nephrolithiasis, Primary congenital glaucoma, Abnormality of the palmar... ORPHA:521445
Laurence-Moon Syndrome
Brachydactyly, Finger syndactyly, Cataract, Hypoplasia of penis, Hand polydactyly, Displacement o... ORPHA:2377
Endocrine-Cerebroosteodysplasia
Aplasia/Hypoplasia of the corpus callosum, Sandal gap, Micromelia, Ulnar deviation of the hand or... OMIM:612651
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Hypomelanosis Of Ito
Clinodactyly, Iris coloboma, Cataract, Hand polydactyly, Epicanthus, Radial deviation of finger, ... OMIM:300337
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract, Split hand, Split foot, Hand monodactyly OMIM:183800
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Clinodactyly of the... ORPHA:1388
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Short metacarpal, Cataract, Short thumb, Epicanthus ORPHA:2489
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Renal cyst, Bilateral triphalangeal thumbs OMIM:138790
Richieri-Costa/Guion-Almeida Syndrome
Palmoplantar cutis laxa, Ptosis, Eyelid coloboma, Downslanted palpebral fissures, Abnormal digit ... OMIM:268850
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology, Abnormality of finger ORPHA:2730
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Fetal Encasement Syndrome
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Macular edema, Nuclear cataract, Increased cup-to-di... ORPHA:280914
Cutis Marmorata Telangiectatica Congenita
Bowing of the legs, Short lower limbs, Retinal detachment, Leukocoria, Hypertension, Telangiectasia OMIM:219250
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Po... OMIM:614500
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Short palm, Overhanging nasal tip, Cone-shaped epiphyses of the phalanges of the hand, Convex nas... ORPHA:85172
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Hy... ORPHA:1113
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Right aortic arch, Pulmonary artery atresia, Double aortic arch, Aortopulmon... OMIM:618780
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Optic atrophy ORPHA:2572
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Renal hypoplasia, Hypoplasia of the radius, Downslanted palpebral fissure... OMIM:212780
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Aplasia/Hypop... ORPHA:2839
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Dubowitz Syndrome
Short palpebral fissure, Sparse lateral eyebrow, Hypoplasia of the iris, Blepharophimosis, Clinod... OMIM:223370
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Corneal neo... OMIM:617388
Chromosome 16P13.3 Duplication Syndrome
Upslanted palpebral fissure, Low-set ears, Tapered finger, Short phalanx of finger, Ptosis, Long ... OMIM:613458
Insulin-Like Growth Factor I, Resistance To
Upslanted palpebral fissure, Clinodactyly, Sandal gap, Highly arched eyebrow, Rieger anomaly, Sma... OMIM:270450
Cleft Palate, Cardiac Defects, And Mental Retardation
Upslanted palpebral fissure, Short 2nd finger, 2-3 toe syndactyly, Low-set ears, Cutaneous syndac... OMIM:600987
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of thumb, Proximal placemen... OMIM:218530
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Tapered finger, Short thumb, Microcephaly, Dandy-Walker malformation, Peno... OMIM:619148
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Adams-Oliver Syndrome 3
Short palpebral fissure, 2-3 toe syndactyly, Short distal phalanx of finger, Absent toe, Blepharo... OMIM:614814
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Clinodactyly, Hypoplasia of the lacrimal punctum, Abnormal thumb morphology, ... ORPHA:2363
Oculocerebrocutaneous Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Corneal opacity, Conge... ORPHA:1647
Hypotrichosis 4
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair OMIM:146550
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Dermoids Of Cornea
Corneal opacity OMIM:304730
Wilson-Turner Syndrome
Thick eyebrow, Tapered finger, Microtia, Small hand, Short foot ORPHA:3459
Hypotrichosis Simplex
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair ORPHA:55654
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Clinodactyly, Unilateral narrow palpebral fissure, Sandal gap, Cataract, Astigmati... OMIM:618727
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Short phalanx of finger, Broad metacarpals, Epicanthus, Sparse hair, Broad phalanx OMIM:618724
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Atrial septal defect, Postaxial oligodactyly, Sh... ORPHA:52056
Hec Syndrome
Developmental cataract, Arrhythmia, Abnormal pupil morphology, Cardiomyopathy, Abnormal retinal v... ORPHA:2119
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Abnormality of retinal pigmentation, Supernumerary nipple, Abnormal toenail mo... ORPHA:1433
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia OMIM:613618
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Morm Syndrome
Micropenis, Cataract, Abnormality of the kidney, Retinal atrophy, Retinal dystrophy ORPHA:75858
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Camptodactyly Syndrome, Guadalajara Type 1
Brachydactyly, Toe syndactyly, Camptodactyly of finger, Microtia, Highly arched eyebrow, Low-set,... ORPHA:1327
Ophthalmoplegia, Familial Static
Ptosis, Anisocoria OMIM:165000
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Bardet-Biedl Syndrome 7
Clinodactyly, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly OMIM:615984
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Low-set ears, Microtia, Synophrys, Hirsutism ORPHA:357175
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Winchester Syndrome
Carpal osteolysis, Broad metacarpals, Osteolysis involving tarsal bones, Corneal opacity OMIM:277950
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Underdeveloped nasal alae, Hydranencephaly, Microcephaly, Short distal... OMIM:601355
Waardenburg Syndrome, Type 2E
White eyebrow, Heterochromia iridis, Hypoplasia of the iris, Hypopigmentation of the fundus, Blue... OMIM:611584
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Deviation of finger, Hydronephrosis, Frontal bossing, Anteverted nares... ORPHA:1450
Potocki-Shaffer Syndrome
Brachydactyly, Wormian bones, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, U... OMIM:601224
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Mucoepithelial Dysplasia, Hereditary
Hematuria, Cataract, Melena, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal n... OMIM:158310
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Microcepha... OMIM:605013
Witkop Syndrome
Small nail, Fine hair, Nail pits, Sparse hair, Concave nail, Ridged nail OMIM:189500
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Micr... ORPHA:2570
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Brittle hair, Cutaneous syndactyly, Absent eyelashes, Congenital onycho... ORPHA:2890
Proboscis Lateralis
Unilateral renal agenesis, Optic nerve hypoplasia, Nasolacrimal duct obstruction, Ptosis, Abnorma... ORPHA:141099
Postaxial Acrofacial Dysostosis
Cupped ear, Hypoplasia of the ulna, Low-set ears, Conductive hearing impairment, Supernumerary ni... OMIM:263750
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Low-set ears, Conductive hearing impairment, Sparse eyebrow, Alopecia, Lower eyelid c... OMIM:616367
Abruzzo-Erickson Syndrome
Brachydactyly, Chorioretinal coloboma, Toe syndactyly, Microcornea, Hypospadias, Abnormal localiz... ORPHA:921
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Adducted thumb, Pes cavus, Hydroceph... OMIM:303350
Coxoauricular Syndrome
Hip dislocation, Microtia, Hearing impairment OMIM:122780
3Q29 Microduplication Syndrome
Toe syndactyly, Sclerocornea, Sandal gap, Cataract, Downslanted palpebral fissures, Microphthalmi... ORPHA:251038
Cousin Syndrome
Clinodactyly of the 5th finger, Hydronephrosis, Hypoplastic iliac wing, Hypoplastic pubic bone, 2... OMIM:260660
Burn-Mckeown Syndrome
Short palpebral fissure, 2-3 toe syndactyly, Conductive hearing impairment, Lower eyelid coloboma... OMIM:608572
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Retinal detachment, Lens subluxation, Metaphyseal dysplasia, Lens coloboma, ... OMIM:157151
Rubinstein-Taybi Syndrome 2
Long eyelashes, Broad hallux, Downslanted palpebral fissures, Broad thumb, Posterior helix pit, H... OMIM:613684
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Ox... ORPHA:65759
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Single transverse palmar cre... OMIM:617866
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Absent fin... ORPHA:3258
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dolichocephaly, Cerebellar hypoplasia, Dandy-Walker malformation, Frontal bossing, Orbital cranio... ORPHA:1538
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Meckel Syndrome, Type 4
Hydrocephalus, Bowing of the long bones, Renal cyst, Anencephaly, Microcephaly, Agenesis of cereb... OMIM:611134
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Waardenburg Syndrome, Type 1
White eyebrow, Heterochromia iridis, Thick eyebrow, Blepharophimosis, Hypopigmentation of the fun... OMIM:193500
Nephronophthisis 11
Nephronophthisis, Retinal degeneration, Polyuria, Tubular basement membrane disintegration, Renal... OMIM:613550
Mental Retardation, X-Linked 91
Clinodactyly, Short 5th finger, Cubitus valgus, Small hand, Short foot, Short nose OMIM:300577
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Chordee, Acrania, Micropen... OMIM:618820
Weiss-Kruszka Syndrome
Horizontal crus of helix, Cupped ear, Single transverse palmar crease, Low-set ears, Dextrotransp... OMIM:618619
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Oligodactyly, Humeroradial synostosis, Occipital encephalocele OMIM:614416
Microcephaly-Micromelia Syndrome
Low-set ears, Absent radius, Oligodactyly, Micromelia, Microphthalmia, Short tibia, Humeroradial ... OMIM:251230
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Low-set ears, Microtia, Synophrys, Hirsutism OMIM:615162
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Johnson Neuroectodermal Syndrome
Tetralogy of Fallot, Absent eyelashes, Multiple cafe-au-lait spots, Conductive hearing impairment... ORPHA:2316
Meckel Syndrome, Type 2
Bowing of the long bones, Renal cyst, Anencephaly, Polydactyly, Dandy-Walker malformation, Postax... OMIM:603194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Agenesis of corpus callosum, Cerebellar hypoplasia, Occipital encephalocele, Anenceph... OMIM:615287
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma, Hydrocephalus OMIM:210350
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
Sweeney-Cox Syndrome
Widow's peak, Generalized hirsutism, Cupped ear, Low-set ears, Cutaneous syndactyly, Microtia, Lo... OMIM:617746
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... OMIM:615059
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Bilateral microphthalmos, Hip dislocation, Hearing impairment OMIM:608763
Bardet-Biedl Syndrome 4
Brachydactyly, Renal cyst, Syndactyly, Polydactyly OMIM:615982
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Rosselli-Gulienetti Syndrome
Abnormality of the ear, Anteverted ears, Palmoplantar hyperkeratosis, Sparse eyebrow, Nail dyspla... OMIM:225000
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Hypertension, Ectopia lentis ORPHA:1885
Hartsfield Syndrome
Ptosis, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Microphthalmia, Teleca... ORPHA:2117
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, Recurrent upper respiratory tract infections, Anteverted nares, Dolichocephaly, Sin... OMIM:300209
Even-Plus Syndrome
Patent foramen ovale, Atrial septal defect, Dysplasia of the femoral head, Microtia, Highly arche... OMIM:616854
Fraser Syndrome
Toe syndactyly, Anophthalmia, Finger syndactyly, Cryptophthalmos, Conductive hearing impairment, ... ORPHA:2052
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Overfold... ORPHA:3216
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect, Microtia, Broad thumb, Thickened helices, B... ORPHA:261295
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Camptobrachydactyly
Brachydactyly, Hand polydactyly, Short toe, Urinary incontinence, Congenital finger flexion contr... OMIM:114150
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Aplasia/Hypoplasia of the lungs, Abnormal helix morphology, Atrial sep... ORPHA:1120
Pallister-Hall Syndrome
Nail dysplasia, Atresia of the external auditory canal, Ventricular septal defect, Distal shorten... OMIM:146510
Arthrogryposis, Distal, Type 1B
Contractures involving the joints of the feet, Rocker bottom foot, Camptodactyly, Talipes equinov... OMIM:614335
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis, Sparse scalp ... ORPHA:1008
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Upslanted palpebral fissure, Broad distal phalanx of the toes, Hypopla... OMIM:619194
Adams-Oliver Syndrome 4
Hypoplastic toenails, Atrial septal defect, Toenail dysplasia, Ventricular septal defect, Short t... OMIM:615297
Neu-Laxova Syndrome 1
Renal agenesis, Clinodactyly, Toe syndactyly, Pterygium, Calcaneovalgus deformity, Finger syndact... OMIM:256520
Triopia
Microcornea, Abnormal pupil morphology, Blepharophimosis, Abnormal eyebrow morphology, Iris coloboma ORPHA:3374
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Euryblepharon, Conductive hearing impairment, Ectropion of lower eyelids, Dist... ORPHA:1997
Oculodentodigital Dysplasia, Autosomal Recessive
Short palpebral fissure, 2-4 toe cutaneous syndactyly, Persistent pupillary membrane, 4-5 finger ... OMIM:257850
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
1Q21.1 Microduplication Syndrome
Frontal bossing, Hydrocephalus, Talipes equinovarus, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Waardenburg Syndrome, Type 3
Brachydactyly, Clinodactyly, Carpal synostosis, Premature graying of hair, Heterochromia iridis, ... OMIM:148820
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Macrotia, Cardiomegaly, Sparse hair, Syndactyly OMIM:613576
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, ... ORPHA:2549
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Mandibulofacial Dysostosis-Microcephaly Syndrome
Large earlobe, Absent tragus, Abnormality of the outer ear, Underdeveloped tragus, Low-set ears, ... ORPHA:79113
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Cerebral atrophy, Toe syndactyly, Craniosynostosis, Short palm, Micrope... ORPHA:171839
Cerebrooculonasal Syndrome
Anophthalmia, Sparse eyebrow, Low-set, posteriorly rotated ears, Abnormal tragus morphology, Spar... ORPHA:66625
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Upslanted palpebral fissure, Microphthalmia, Hypogonadism ORPHA:2528
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Brachydactyly, Abnormal hair pattern, Atresia of the external auditory canal, Microtia, Low-set, ... ORPHA:1770
Frontonasal Dysplasia 1
Widow's peak, Clinodactyly, Tetralogy of Fallot, Brachydactyly, Low-set ears, Cranium bifidum occ... OMIM:136760
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Microtia, Micromelia, Limb undergrowth OMIM:269870
Pierpont Syndrome
Uplifted earlobe, Microphthalmia, Deep palmar crease, Posteriorly rotated ears, Macrotia, Short t... ORPHA:487825
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Abnormal distal phalanx morphology of finger, Corneal dystrophy, Triph... ORPHA:2673
Spastic Paraplegia 47, Autosomal Recessive
Bulbous nose, Pes planus, Wide nasal bridge, Ventriculomegaly, Microcephaly, Genu recurvatum, Abn... OMIM:614066
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Abnorm... ORPHA:1106
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly, Ectropion of lower eyelids, Distichiasis, Euryblepharon OMIM:617681
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Hypoplastic toenails, Sparse eyebrow, Palma... OMIM:613573
Summitt Syndrome
Syndactyly OMIM:272350
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Plagiocephaly, Unilambdoid synostosis, Clinodactyly, Agenesis of corpus callosum, ... OMIM:618577
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Brachydactyly, Toe syndactyly, Small nail, Bilateral triphalangeal thumbs, Sensorineural hearing ... OMIM:124480
Arthrogryposis, Distal, Type 7
Hammertoe, Metatarsus adductus, Cutaneous syndactyly of toes, Talipes equinovarus, Hip dislocation OMIM:158300
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Aplasia/Hypoplasia of the lungs,... ORPHA:3429
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Clinodactyly, Low-set ears, Long eyelashes, Sandal gap, Tapered finger, Microtia, Posteriorly rot... OMIM:618089
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Clinodactyly, Agenesis of corpus callosum, Cutaneous syndactyly, Wide nasal bri... ORPHA:166024
Laurin-Sandrow Syndrome
Talipes, Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus callosum, Absent radius, Mir... ORPHA:2378
Temtamy Syndrome
Brachydactyly, Genu varum, Low-set ears, Clinodactyly of the 5th finger, Microphthalmia, Short to... ORPHA:1777
Filippi Syndrome
Single transverse palmar crease, Frontal hirsutism, Cutaneous syndactyly, 2-4 toe syndactyly, Ven... OMIM:272440
Cat-Eye Syndrome
Chorioretinal coloboma, Hydronephrosis, Downslanted palpebral fissures, Microphthalmia, Abnormal ... ORPHA:195
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Finger syndactyly, Postaxial foot polydactyly, Sclerocornea... ORPHA:139471
Mullegama-Klein-Martinez Syndrome