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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia OMIM:165600
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Hypospadias, Anophthalmia, Microcornea, 2-3 toe syndactyly, Long eyel... OMIM:615877
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Ptosis, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Crossed Polysyndactyly
Hypoplasia of penis, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydacty... ORPHA:2935
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Iris cyst, Ptosis, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure OMIM:620086
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Upper eyelid coloboma, Telecanthus, Low-set ears,... OMIM:167730
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Developmental glaucoma, Aniridia, Telecanthus OMIM:206750
Dermochondrocorneal Dystrophy
Abnormality of the hand, Corneal dystrophy, Large hands ORPHA:79149
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Oculotrichoanal Syndrome
Microphthalmia, Upper eyelid coloboma, Anophthalmia, Cryptophthalmos, Abnormal hair pattern, Naso... ORPHA:2717
Aniridia 1
Bilateral ptosis, Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic ... OMIM:106210
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit... OMIM:310600
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Craniosynostosis, Philadelphia Type
Finger syndactyly, Long palpebral fissure ORPHA:1527
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618498
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Redundant neck skin, Clinodactyly of the 5th finger, Hydranencephaly, Single transver... OMIM:236500
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda... ORPHA:246
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb, Chorioretinal coloboma OMIM:274205
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Gms Syndrome
Rieger anomaly, Downslanted palpebral fissures, Epicanthus, Tricuspid regurgitation ORPHA:2090
Bardet-Biedl Syndrome 18
Retinal dystrophy, Brachydactyly, Cataract, Rod-cone dystrophy, Stage 5 chronic kidney disease, R... OMIM:615995
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Corneopalpebral synechiae, Anophthalmia, Cryptophthalmos, Abnormality of the hair... OMIM:248450
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... ORPHA:98957
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Telecanthus, Abnormal hair morphology, Hyperpigmented nevi, Optic nerve... OMIM:607597
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hirsutism, Low-set ears, Long eyelashes, Hear... OMIM:618608
Wagr Syndrome
Cataract, Ptosis, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus ORPHA:893
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Telecanthus, Short metacarpal, Abnormal pelvic girdle bone morpholo... ORPHA:1422
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndactyly, Ventriculo... OMIM:615938
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Bartsocas-Papas Syndrome
Popliteal pterygium, Renal hypoplasia/aplasia, Sparse or absent eyelashes, Finger syndactyly, Cor... ORPHA:1234
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Waardenburg Syndrome, Type 2A
Heterochromia iridis, Synophrys, Hypoplastic iris stroma, White eyelashes, White eyebrow OMIM:193510
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synophrys, Thick eyebrow, Epicanthus, Radiouln... ORPHA:3268
Coloboma Of Macula-Brachydactyly Type B Syndrome
Renal agenesis, Broad thumb, Camptodactyly of finger, Chorioretinal coloboma, Short distal phalan... ORPHA:1471
Bardet-Biedl Syndrome 14
Polydactyly, Renal insufficiency OMIM:615991
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Downslanted palpebral fissures, Clinodactyly of the 5th finger, Epicanthus ORPHA:238446
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Short Tarsus With Absence Of Lower Eyelashes
Hypoplasia of the lower eyelids, Absent lower eyelashes OMIM:600269
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Intermediate Uveitis
Band keratopathy, Vasculitis, Cystoid macular edema, Vitreous snowballs, Optic neuritis, Vitreous... ORPHA:279914
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne... ORPHA:163934
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... OMIM:610256
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Bardet-Biedl Syndrome 5
Polydactyly, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Hyperte... OMIM:609049
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Retinal atrophy, Posterior synechiae of the anterior chamber OMIM:616722
Neovascular Glaucoma
Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal... ORPHA:94058
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Upper limb phoco... ORPHA:294975
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Short Syndrome
Abnormal anterior chamber morphology, Telecanthus, Corneal opacity, Megalocornea, Hypoplasia of t... ORPHA:3163
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Bartsocas-Papas Syndrome 1
Ectropion, Microphthalmia, Small nail, Hypoplastic iliac wing, Microtia, Oligodactyly, Short meta... OMIM:263650
Frontonasal Dysplasia 3
Microphthalmia, Upper eyelid coloboma, Low-set ears, Absent eyebrow, Sparse eyelashes, Posteriorl... OMIM:613456
Ablepharon-Macrostomia Syndrome
Hypoplastic fingernail, Clinodactyly of the 5th finger, Absent eyelashes, Microtia, third degree,... OMIM:200110
Woolly Hair
Cataract, Sparse lateral eyebrow, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus OMIM:613681
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Distal Deletion 6P
Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Talipes equinovarus, Cornea... ORPHA:96125
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe, Short thumb, Short 5th finger OMIM:176305
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Telecanthus, Rieger anomaly, Abnormally prominent line of Schwalbe, C... OMIM:109120
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Protruding ear, Palmoplantar keratoderma, Triphalangeal thumb, Hyperp... ORPHA:2251
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Agenesis of corpus callosum, Ventriculome... OMIM:614120
Isolated Split Hand-Split Foot Malformation
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital cyst, Congenital hip dislocation, Eyelid coloboma, Alopecia OMIM:164180
Aniridia And Absent Patella
Cataract, Aplasia/Hypoplasia of the patella, Aniridia OMIM:106220
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia OMIM:615524
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Hypospadias, Dandy-Walker malformation, Postaxial hand poly... OMIM:614175
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Brachydactyly, Posterior sy... OMIM:613195
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Aniridia-Absent Patella Syndrome
Cataract, Aplasia/Hypoplasia of the patella, Ptosis, Aniridia ORPHA:1069
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Syndactyly, Brachydactyly, Peters anomaly, Cl... OMIM:610023
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Band keratopathy, Hypoplasia of the iris, Anterior synechiae ... OMIM:614195
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Hypospadias, Coloboma ORPHA:141333
Acrofrontofacionasal Dysostosis
Aplasia/Hypoplasia of the eyebrow, Hypospadias, Abnormal epiphysis morphology, Micromelia, Broad ... ORPHA:1784
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Unilateral renal agenesis, Aniridia, Telecanthus, Corneal opacity ORPHA:1064
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
2Q24 Microdeletion Syndrome
Microphthalmia, Abnormality iris morphology, Bullet-shaped distal phalanx of the hallux, Camptoda... ORPHA:1617
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ... ORPHA:2479
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Micromelia, Hypoplasia of the iris, Short phalanx of finger, Brachydactyly, Opt... OMIM:600092
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Genu valgum, Retinal detachment, Mega... OMIM:249310
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Abnormal pinna morphology, Split hand, Ectrodactyly, Finger aplasia, Hearing... OMIM:183600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Retin... OMIM:221900
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha... ORPHA:189
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
ERI1-related disease
Dislocated radial head, Oligodactyly, Abnormal heart morphology, Syndactyly, Sparse hair, Slender... OMIM:608739
Frontofacionasal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Microphthalmia, Upper eyelid coloboma, Telecanthus, Absent inn... ORPHA:1791
Deafness, X-Linked 7
Telecanthus, Stenosis of the external auditory canal, Unilateral microphthalmos, Hearing impairme... OMIM:301018
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Fron... ORPHA:380
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Microtia, Absent eyelashes, Absent eyebrow, Hearing impairment, Atresia of the... ORPHA:920
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
2-3 toe syndactyly, Low-set ears, Horizontal eyebrow, Ptosis, Posteriorly rotated ears, Epicanthu... OMIM:619311
Fraser Syndrome 2
Microphthalmia, Low-set ears, Atresia of the external auditory canal, Cryptophthalmos, Low anteri... OMIM:617666
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Adams-Oliver Syndrome 4
Microphthalmia, Toenail dysplasia, Absent middle phalanx of the 3rd toe, Aplasia of the distal ph... OMIM:615297
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Barber-Say Syndrome
Ectropion, Sparse or absent eyelashes, Telecanthus, Breast aplasia, Abnormal pinna morphology, Hy... ORPHA:1231
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ... OMIM:602482
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Aplasia/Hypoplasia of the earlobes, Deviation of... ORPHA:1104
Phacoanaphylactic Uveitis
Cystoid macular edema, Hyphema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseud... ORPHA:209959
Aniridia 3
Cataract, Aniridia OMIM:617142
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the corpus callosum, Death in childhood, Progressive microcephaly, Death in adolesc... OMIM:616486
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst OMIM:615987
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Urinary incontinence, Sandal gap, Single transverse palmar cre... OMIM:617927
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Microphthalmia, Corneal opacity, Abnormality of retinal pigmentat... ORPHA:290
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Nasolacrimal duct obs... OMIM:612109
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Hypotrichosis 1
Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S... OMIM:605389
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Microphthalmia, Corneal neovascularization, Entropion, Keratitis, Conjunctivitis, Cata... OMIM:278730
D-Lactic Aciduria With Gout
Downslanted palpebral fissures, Aniridia, Elevated urine D-lactate level, Lacticaciduria OMIM:245450
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
WAGR 11p13 deletion syndrome
Renal neoplasm, Aniridia DECIPHER:35
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Sparse scalp hair, Camptodactyly, Sparse eyelashes, 3-4 toe sy... OMIM:225280
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Corneal opacity, Posterior embryoto... ORPHA:1473
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Fraser Syndrome 3
Low-set ears, Cryptophthalmos, Short toe, Simple ear, Cutaneous syndactyly OMIM:617667
Nager Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Low-set, posteriorly rotated ears, Aplasia/Hypopla... ORPHA:245
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Aminopterin/Methotrexate Embryofetopathy
Talipes, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the corpus... ORPHA:1908
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Donnai-Barrow Syndrome
Retinal dystrophy, Retinal detachment, Hypoplasia of the iris, Short sternum, Downslanted palpebr... OMIM:222448
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Eyelid colob... OMIM:613001
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Trisomy 13
Bilateral single transverse palmar creases, Optic atrophy, Microphthalmia, Anophthalmia, Abnormal... ORPHA:3378
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Microphthalmia With Limb Anomalies
Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy... OMIM:206920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Hem... OMIM:615937
Neu-Laxova Syndrome 2
Rocker bottom foot, Finger syndactyly, Ablepharon, Cataract, Toe syndactyly OMIM:616038
White Forelock With Malformations
White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Pol... OMIM:277740
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Upslanted palpebral fissure, Unilateral renal agenesis ORPHA:2512
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Hearing impairment, Abnormality of skin p... ORPHA:42665
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Short long bone, Corneal opacity, Short metacarpal,... ORPHA:85167
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplasia of the corpus callosum, Brachycephaly, Preaxial polydactyly, Unilateral renal agenesis... OMIM:618142
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Conductive hearing impairment, Preauricular hair displacement, Lo... OMIM:618939
Cataract 42
Cataract, Developmental cataract OMIM:115900
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Low-set ears, ... OMIM:613885
Zechi-Ceide Syndrome
Short metatarsal, Sandal gap, Thick hair, Small nail, Abnormal earlobe morphology, Microtia, Abno... ORPHA:217017
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Hypospadias, Telecanthus, Posterior embryotoxon, Aplasia/Hy... ORPHA:782
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Trigonocephaly, Syndactyly, Umbilical hernia, Ventriculomegaly, Craniosynostosis, Hy... OMIM:175700
Joubert Syndrome 15
Preaxial polydactyly, Nephronophthisis, Coloboma, Micropenis, Exencephaly OMIM:614464
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Lacrimal duct aplasia, T... DECIPHER:46
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... OMIM:309630
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Pulmonary artery atresia, Double aortic arch, Tetralogy of Fallot, Aortopulmon... OMIM:618780
Ventriculomegaly And Arthrogryposis
Hand clenching, Ulnar deviation of the wrist, Agenesis of corpus callosum, Cerebellar hypoplasia,... OMIM:619501
Focal Dermal Hypoplasia
Microphthalmia, Renal hypoplasia/aplasia, Corneal opacity, Hypoplastic pelvis, Split foot, Upper ... ORPHA:2092
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Microphthalmia, Absent distal phalanges, Low-set ears, 2... OMIM:619339
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Hydrocephalus, Congenital, 3, With Brain Anomalies
Redundant neck skin, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly... OMIM:617967
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Upper eyelid coloboma, Hearing impairment, Ptosis, Thick eyebrow,... OMIM:619736
Distal Deletion 17Q
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal hip bone morpholo... ORPHA:1597
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Fraser Syndrome 1
Abnormal middle ear morphology, Upper eyelid coloboma, Small nail, Abnormal pinna morphology, Apl... OMIM:219000
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, Single transverse palmar crease, Oligodactyly, Low-set e... OMIM:201170
Terminal Osseous Dysplasia
Mesomelic arm shortening, Telecanthus, Abnormal hand bone ossification, Low-set ears, Camptodacty... OMIM:300244
Distal Deletion 13Q
Abnormality of the hand, Anencephaly, Encephalocele, Abnormal metacarpal morphology, Aplasia/Hypo... ORPHA:1590
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Iris coloboma, Prominent protruding coccyx, Hydranencephaly, Hyd... ORPHA:2839
X-Linked Recessive Ocular Albinism
Astigmatism, Iris hypopigmentation, Hypoplasia of the fovea, Abnormal macular morphology, Abnorma... ORPHA:54
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Limbal stem cell deficiency, Corneal neovascularization, Finger joint h... OMIM:615225
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Bardet-Biedl Syndrome 9
Polydactyly, Astigmatism, Bone spicule pigmentation of the retina, Postaxial hand polydactyly, Po... OMIM:615986
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Sensorineural hearing impairment, Piebal... ORPHA:998
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... ORPHA:39044
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Telecanthus, Sensorineural hearing impairment, ... OMIM:619947
Gillespie Syndrome
Aniridia, Hypoplasia of the iris OMIM:206700
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Waardenburg Syndrome, Type 2B
Premature graying of hair, Telecanthus, Sensorineural hearing impairment, Heterochromia iridis, W... OMIM:600193
Microhydranencephaly
Hydranencephaly, Microcephaly, Prominent nasal bridge, Agenesis of corpus callosum, Cerebellar hy... OMIM:605013
Congenital Microcoria
Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris... ORPHA:566
Trisomy 12P
Clinodactyly of the 5th finger, Aplasia/Hypoplasia affecting the eye, Large hands, Thick eyebrow,... ORPHA:1699
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short palpebral fissure, Recurrent otitis media, Hypoplastic thumbnail, Osseous finger syndactyly... ORPHA:370010
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Oligodactyly, Low-set ears, Forearm undergrowth, Micromelia,... OMIM:251230
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Abnormality of the palmar creases, Retinal detachment, Nephrolithiasis... ORPHA:521445
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Aniridia, Hypospadias, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior em... OMIM:180500
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Galloway-Mowat Syndrome 1
Optic atrophy, Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephro... OMIM:251300
Duane Retraction Syndrome
Aniridia, Ectopic kidney, Hypoplastic iris stroma, Absent radius, Central heterochromia, Hypoplas... ORPHA:233
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Pallister-Hall Syndrome
Nail dysplasia, Microphthalmia, Microtia, Oligodactyly, Shortening of all distal phalanges of the... OMIM:146510
Bazex-Dupré-Christol Syndrome
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Abnormal finger morphology, Sparse... ORPHA:113
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Stenosis of the external auditory canal, Finger... OMIM:614900
Brachydactyly Type A4
Short middle phalanx of the 5th finger, Symphalangism affecting the phalanges of the hand, Short ... ORPHA:93394
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Vitr... ORPHA:263479
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar... ORPHA:364055
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Weakness of the intrinsic hand muscles OMIM:160565
Hypomelanosis Of Ito
Radial deviation of finger, Hand polydactyly, Syndactyly, Epicanthus, Cataract, Clinodactyly, Iri... OMIM:300337
Sclerosteosis
Diaphyseal undertubulation, Finger syndactyly, Sensorineural hearing impairment, Ptosis, 2-3 fing... ORPHA:3152
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, U... OMIM:618435
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Abnormality of the ear, Absent... OMIM:172800
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly, Hand polydact... ORPHA:2377
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Rocker bottom foot, Hypoplasia of the brainstem, Cerebral hypoplasia, Death in ... OMIM:618266
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Microcephaly, Trigonocephaly, Overlapping toe, Penoscrotal transposition, Advanced e... OMIM:619148
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal foot morphology, Spina bifida occulta, Finger syndactyly, Spina bi... ORPHA:64754
Insulin-Like Growth Factor I, Resistance To
Short finger, Radial deviation of finger, Sandal gap, Highly arched eyebrow, Short foot, Synophry... OMIM:270450
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-... OMIM:611134
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality... ORPHA:521308
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Microtia, first de... OMIM:620444
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Postaxial polydactyly, Attenuat... OMIM:614500
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Hypertension, Short lower limbs, Leukocoria, Bowing of the legs, Telangiectasia OMIM:219250
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand poly... ORPHA:2091
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb, Chorioretinal coloboma, Epicanthus, Cataract ORPHA:2489
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Morm Syndrome
Abnormality of the kidney, Retinal dystrophy, Retinal atrophy, Cataract, Micropenis ORPHA:75858
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Tetralogy of Fallot, Omphalocele OMIM:613630
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis, Brachydactyly ORPHA:79414
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Knee flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Unilateral wrist fl... OMIM:616531
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Finger syndactyly, Abnormal toenail morphology,... ORPHA:1433
Richieri-Costa/Guion-Almeida Syndrome
Abnormal digit morphology, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Palmoplantar ... OMIM:268850
Albinism-Deafness Syndrome
Piebald skin depigmentation, Congenital sensorineural hearing impairment, Patchy hypo- and hyperp... OMIM:300700
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, 2-3 toe cutaneous syndactyly, Small nail, Sparse scalp hair, Patchy alopecia, 4-5 to... OMIM:613573
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Microphthalmia, Femoral bowing, Corneal opacity, Tibial bowing, Sho... OMIM:608940
Hec Syndrome
Cardiomyopathy, Developmental cataract, Abnormal retinal vascular morphology, Arrhythmia, Abnorma... ORPHA:2119
Hypotrichosis 10
Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Autoinflammation With Arthritis And Dyskeratosis
Corneal neovascularization, Punctate keratitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis... OMIM:617388
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent otitis media, Clinodactyly of the 5th finger, Oligodactyly, Low-set ears, Hypertension,... OMIM:619758
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Retinopathy, Split foot, Cataract OMIM:183800
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:99811
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Astigmatism, Sandal gap, 3-4 toe syndactyly, Broad hallux, Ectopia... OMIM:618727
17Q21.31 Microduplication Syndrome
Short nose, Clinodactyly of the 5th finger, Sandal gap, Anteverted nares, Microcephaly, Toe synda... ORPHA:217340
Wilson-Turner Syndrome
Microtia, Tapered finger, Thick eyebrow, Short foot, Small hand ORPHA:3459
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Ventriculomegaly, Aplasia/Hypoplasia of t... OMIM:612651
Ophthalmoplegia, Familial Static
Ptosis, Anisocoria OMIM:165000
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Waardenburg Syndrome, Type 2E
Heterochromia iridis, Hypoplasia of the iris, Iris hypopigmentation, White eyelashes, White eyebr... OMIM:611584
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Convex nasal ridge, Cone-shaped epiphyses of the phalanges of the hand, Narrow nasal bridge, Micr... ORPHA:85172
Tietz Albinism-Deafness Syndrome
Heterochromia iridis, White eyelashes, White eyebrow, Hypopigmentation of the fundus, Blue irides OMIM:103500
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx, Sparse hair, Epicanthus OMIM:618724
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Oculocerebrocutaneous Syndrome
Finger syndactyly, Corneal opacity, Congenital hip dislocation, Aplasia/Hypoplasia of the distal ... ORPHA:1647
Dermoids Of Cornea
Corneal opacity OMIM:304730
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Abnormality of the ureter, Deviation of finger, Frontal bossing, Hy... ORPHA:1450
Catel-Manzke Syndrome
Chronic otitis media, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Highly a... ORPHA:1388
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Talipes equinovarus, Hip dysplasia, Acetabular dysplasia, Coxa valga OMIM:613618
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Aphalangy-Syndactyly-Microcephaly Syndrome
Hypoplastic fingernail, Abnormal metacarpal morphology, Absent toenail, Split foot, Aplasia/Hypop... ORPHA:1113
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Broad distal phalanx of finger, Hydroureter, Unilateral renal agenesis, Anterior polar cataract, ... OMIM:619194
Lacrimoauriculodentodigital Syndrome
Recurrent corneal erosions, Corneal neovascularization, Hypoplasia of the lacrimal punctum, Limba... ORPHA:2363
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Microcephaly, Short distal phalanx of finger, Underde... OMIM:601355
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Sandal gap, Camptodactyly of toe, Downslanted palpebral fissures, Scler... ORPHA:251038
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hematuria, Chorioretinal coloboma, Cataract, Iris coloboma OMIM:120433
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Short Syndrome
Astigmatism, Radial deviation of finger, Telecanthus, Slender long bone, Megalocornea, Enlarged e... OMIM:269880
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Low-set, posteriorly rotated ears, Highly arched eyebrow, Attached earlobe, Micro... ORPHA:1327
Mandibulofacial Dysostosis With Alopecia
Stenosis of the external auditory canal, Microtia, Alopecia, Low-set ears, Sparse eyelashes, Cond... OMIM:616367
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencephaly, Hydrocephalus, Cerebellar v... OMIM:616546
Even-Plus Syndrome
Highly arched eyebrow, Microtia, Patent foramen ovale, Synophrys, Epiphyseal dysplasia, Sparse ha... OMIM:616854
Sweeney-Cox Syndrome
Upper eyelid coloboma, Small nail, Short clavicles, Microtia, Low-set ears, 2-5 toe syndactyly, B... OMIM:617746
Winchester Syndrome
Osteolysis involving tarsal bones, Broad metacarpals, Corneal opacity, Carpal osteolysis OMIM:277950
Meckel Syndrome, Type 2
Polydactyly, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Postaxial hand p... OMIM:603194
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Coxoauricular Syndrome
Hearing impairment, Microtia, Hip dislocation OMIM:122780
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Palmoplantar keratoderma, Brittle hair, Abnormal pinna morphology, Absent eyelash... ORPHA:2890
Dubowitz Syndrome
Short palpebral fissure, Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, Telecanthus... OMIM:223370
Carpenter Syndrome
Polydactyly, Genu valgum, Turricephaly, Craniosynostosis, Finger syndactyly, Cloverleaf skull, Po... ORPHA:65759
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, Choroid plexu... OMIM:617866
Genitourinary And/Or Brain Malformation Syndrome
Secondary microcephaly, Dysplastic corpus callosum, Short nose, Hypospadias, Polymicrogyria, Urog... OMIM:618820
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, Low-set ears, Stenosis of ... ORPHA:3216
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Acropectorovertebral Dysplasia
Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B... OMIM:102510
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Waardenburg Syndrome, Type 1
Telecanthus, Heterochromia iridis, Hypoplastic iris stroma, Synophrys, Thick eyebrow, White eyela... OMIM:193500
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Ectropion, Low-set ears, Congenital hip disloca... OMIM:263750
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Conductive hearing impairment, Microtia, Lower eyelid coloboma OMIM:248390
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Syndactyly, Brachydactyly OMIM:615982
Abruzzo-Erickson Syndrome
Hypospadias, Microcornea, Radioulnar synostosis, Short toe, Chorioretinal coloboma, Brachydactyly... ORPHA:921
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae ORPHA:1885
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Hyaloid vascular remnant and retrolental mass, Microcornea, Glial remnants anteri... ORPHA:91495
Masa Syndrome
Pes cavus, Adducted thumb, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ventriculome... OMIM:303350
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Occipital encephalocele, Oligodactyly OMIM:614416
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Unilateral renal agenesis, Corneal opacity, Developmental cataract, Adducte... OMIM:616603
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Frontal bossing, Hip dysplasia, Talipes equinovarus, Hip dislocation ORPHA:250994
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly, Iris coloboma OMIM:210350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Abnormal eyelash morphology, Sparse scalp hair, Hearing impairment, Sparse body ha... ORPHA:1008
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Microphthalmia, Tetralogy of Fallot OMIM:300887
Traboulsi Syndrome
Short finger, Microphthalmia, Cubitus valgus, Spherophakia, Homocystinuria, Phakodonesis, Iris at... OMIM:601552
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Frontal bossing, Dolichocephaly, Orbital craniosynostos... ORPHA:1538
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Anisocoria, Retinal degener... OMIM:613550
Adams-Oliver Syndrome 3
Short 5th toe, Short palpebral fissure, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short p... OMIM:614814
Intellectual Developmental Disorder, X-Linked 91
Short nose, Cubitus valgus, Short foot, Short 5th finger, Clinodactyly, Small hand OMIM:300577
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Hypoplastic fingernail, Proximal placement of thumb, Clinodactyly of the 5... OMIM:618619
Nanophthalmos 4
Microphthalmia OMIM:615972
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Microcephaly, Cerebral cortical atrophy, Camptodactyly of finger, Holoprosenceph... ORPHA:2570
Nanophthalmos
Microphthalmia ORPHA:35612
Fraser Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Anophthalmia, Finger syndactyly, Abnormal pinn... ORPHA:2052
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Astigmatism, Foveal hyperpigmentation, Axenfeld anomaly, ... OMIM:609218
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Hartsfield Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Telecanthus, Split hand, Ptosis, Downslanted p... ORPHA:2117
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Microtia, Hirsutism, Low-set ears, Synophrys, Clinodactyly ORPHA:357175
Unilateral Ocular Duplication
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Blepharophimosis, Iris coloboma ORPHA:3374
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Abnormal hair quantity, Abnormal eyelid morphology, Euryblepharon, Distichiasi... ORPHA:1997
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Proboscis Lateralis
Microphthalmia, Optic nerve hypoplasia, Corneal opacity, Abnormal eyebrow morphology, Ureteral ag... ORPHA:141099
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Palpebral edema, Small earlobe, Microtia, Underdeveloped tragus, Broad thumb, Spa... OMIM:181270
Camptobrachydactyly
Urinary incontinence, Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndac... OMIM:114150
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries OMIM:231060
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... OMIM:260660
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Renal... OMIM:611561
Potocki-Shaffer Syndrome
Brachycephaly, Short nose, Turricephaly, Single transverse palmar crease, Parietal foramina, 2-5 ... OMIM:601224
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Macrotia, Syndactyly, Sparse hair, Palmoplantar keratoderma OMIM:613576
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Highly arched eyebrow, Hirsutism, Prominent fingertip pads... OMIM:613684
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Thick eyebrow, Sparse hair, Preaxial hand polydactyl... OMIM:606242
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Unilateral renal agenesis, Abnormal metacarpal morphology, Corneal dystrophy... ORPHA:2673
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Telecanthus, Sen... ORPHA:895
Pierpont Syndrome
Short finger, High anterior hairline, Microphthalmia, Deep palmar crease, Telecanthus, Prominent ... ORPHA:487825
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Low-set ears, Talipes equinovarus OMIM:616570
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Microtia, Broad thumb, Broad hallux phalanx, Atrial septal defect... ORPHA:261295
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Abnormality ... ORPHA:2549
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism, Upslanted palpebral fissure, Epicanthus ORPHA:2528
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Microphthalmia, Short palpebral fissure, Telecanthus, 3-4 finger cu... OMIM:257850
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Hematuria, Melena, Keratoconjunctivitis, Cataract, Opacification of t... OMIM:158310
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Abnormal tragus morphology, Anophthalmia, Postaxial hand polyd... ORPHA:66625
Johnson Neuroectodermal Syndrome
Protruding ear, Absent eyelashes, Microtia, Multiple cafe-au-lait spots, Absent eyebrow, Atresia ... ORPHA:2316
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Bicuspid aortic valve, Atr... ORPHA:1120
Braddock-Carey Syndrome 2
Microphthalmia, Hearing impairment, Atresia of the external auditory canal, Downslanted palpebral... OMIM:619981
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Nail dystrophy, Triphalangeal thumb, Small nail, Sensorineural hearing impairment, Absent middle ... OMIM:124480
Moebius Syndrome
Congenital fibrosis of extraocular muscles, Microphthalmia, Radial deviation of finger, Abnormali... OMIM:157900
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Telecanthus, Blepharophimosis, Sensorineur... OMIM:148820
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res... ORPHA:88630
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Short nose, Hydrocephalus, Antev... OMIM:618577
Cat-Eye Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Downslanted palpebral fissures, Hydronephrosis, Chorior... ORPHA:195
Laurin-Sandrow Syndrome
Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo... ORPHA:2378
Temtamy Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Telecanthus, Low-set ears, Short toe, Brachydacty... ORPHA:1777
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Spindle-shaped finger, Genu valgum, Delayed ... ORPHA:166024
Blepharocheilodontic Syndrome 2
Nail dysplasia, Euryblepharon, Distichiasis, Ectropion of lower eyelids, Lagophthalmos, Cutaneous... OMIM:617681
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Hydrocephalus, Microtia, Myelomeningocele, Hearing impairment, Aplasia/Hypo... ORPHA:1914
Ectodermal Dysplasia With Mental Retardation And Syndactyly
2-3 toe syndactyly, Dry skin, Long palpebral fissure, Sparse eyebrow, 3-4 finger syndactyly OMIM:600906
Burn-Mckeown Syndrome
Short palpebral fissure, 2-3 toe syndactyly, Hearing impairment, Conductive hearing impairment, P... OMIM:608572
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Microtia, Hirsutism, Low-set ears, Synophrys, Clinodactyly OMIM:615162
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Retinal dystrophy, Anophthalmia, Finger syndactyly, ... ORPHA:139471
Arthrogryposis, Distal, Type 7
Hammertoe, Metatarsus adductus, Cutaneous syndactyly of toes, Talipes equinovarus, Hip dislocation OMIM:158300
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Congenital palmoplantar hyperkeratosis, Autoamputation of digits, Talipes equinovarus OMIM:620009
Warburg-Cinotti Syndrome
Corneal neovascularization, Osteolytic defects of the phalanges of the hand, Retinal dystrophy, L... OMIM:618175
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Frontonasal Dysplasia 1
Joint contracture of the hand, Microphthalmia, Radial deviation of finger, Pectoral muscle hypopl... OMIM:136760
Pierpont Syndrome
Short finger, High anterior hairline, Microphthalmia, Deep palmar crease, Telecanthus, Blepharoph... OMIM:602342
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Microcephaly, Depressed nasal bridge, Hip dislocation, Short foot, Talipes equinovarus, Small hand OMIM:300434
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Microphthalmia, Telecanthus, Microcornea, Ptosis, Ankyloblepharon, E... OMIM:229400
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Foot joint contracture, Camptodactyly, Talipes equinovarus, Joint contracture... OMIM:614335
Acrocephalopolydactyly
Microtia, Short long bone, Limb undergrowth, Brachydactyly ORPHA:221054
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Ectrodactyly-Polydactyly
Split foot, Split hand, Postaxial hand polydactyly OMIM:225290
Neural Tube Defects, Susceptibility To
Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:182940
Deafness, Congenital, With Total Albinism
Hearing impairment, Albinism OMIM:220900
Nephroblastoma
Nephroblastoma, Hypertension, Hematuria, Aniridia ORPHA:654
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Microtia, Broad th... ORPHA:1770
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Brachycephaly, Short nose, Turricephaly, Hypospadias, Craniosynostosis, Abnorma... ORPHA:171839
20P13 Microdeletion Syndrome
Polydactyly, Hypoplastic helices, Telecanthus, Small nail, Highly arched eyebrow, Finger syndacty... ORPHA:313781
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Cubitus valgus, Curly eyelashes, Facial hirsutism, Abnormal metatarsal morphology... ORPHA:163654
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches, Abnormal thumb morphology, Abnormality of the wrist, Proximal placeme... ORPHA:1825
Coloboma Of Macula With Type B Brachydactyly
Coloboma, Absent distal phalanges, Broad distal phalanx of the thumb, Bifid distal phalanx of the... OMIM:120400
Desbuquois Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho... ORPHA:1425
17P13.3 Microduplication Syndrome
Hypoplasia of the corpus callosum, Short nose, Clinodactyly of the 5th finger, Wide nose, Hypopla... ORPHA:217385
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to... OMIM:617294
Trisomy 18
Bilateral single transverse palmar creases, Short nose, Cyclopia, Anencephaly, Abnormal hip bone ... ORPHA:3380
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Ptosis, Chorioretinal coloboma, Iris coloboma OMIM:300915
Neuralgic Amyotrophy
Short palpebral fissure, Redundant neck skin, Scapular winging, Upper limb amyotrophy, Syndactyly... ORPHA:2901
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia, Hypospadias, Renal insufficiency, Nephroblastoma, Nephropathy OMIM:194072
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Telecanthus, Alopecia, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Large... OMIM:203550