Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia OMIM:165600
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... 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, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Cryptophthalmos OMIM:123570
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Autosomal Dominant Keratitis
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... ORPHA:2334
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Cryptophthalmos, Anophthalmia, Epicanthus, Long eyelashes, Microcornea, Catar... OMIM:615877
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypoplasia of penis, Postaxial hand polydacty... ORPHA:2935
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:1891
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Epicanthus, Iris cyst, Ptosis, Hypoplasia of the fovea, Upslanted palpebral fissure OMIM:620086
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Absent lacrimal punctum, Widow's pe... OMIM:167730
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Developmental glaucoma, Telecanthus, Aniridia OMIM:206750
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:616428
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Dermochondrocorneal Dystrophy
Corneal dystrophy, Large hands, Abnormality of the hand ORPHA:79149
Isolated Optic Nerve Hypoplasia/Aplasia
Vesicoureteral reflux, Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, ... ORPHA:137902
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Oculotrichoanal Syndrome
Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Microphthalmia, Abnormal hair pattern, Naso... ORPHA:2717
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Fraser Syndrome 2
Aplasia of the bladder, Renal agenesis, Renal hypoplasia, Cryptophthalmos OMIM:617666
Aniridia 1
Corneal erosion, Bilateral ptosis, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal n... OMIM:106210
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... OMIM:174400
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Craniosynostosis, Philadelphia Type
Finger syndactyly, Long palpebral fissure ORPHA:1527
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... OMIM:310600
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... ORPHA:70476
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... ORPHA:171673
Wahab Syndrome
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... OMIM:615170
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, 2-3 toe syndactyly, Choanal stenosis, Hypoplasia of the brainstem, Narrow nasa... OMIM:236500
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Coarse metaphyseal trabecularization, Abnormal pelvic girdle b... ORPHA:2779
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Downslanted palpebral fissures, Conductive hearing impairment, Finger sy... ORPHA:246
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract, Chorioretinal coloboma OMIM:274205
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal dystrophy, Cataract, Brachydactyly, R... OMIM:615995
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Microphthalmia, Brachydactyly OMIM:233270
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Gms Syndrome
Downslanted palpebral fissures, Rieger anomaly, Tricuspid regurgitation, Epicanthus ORPHA:2090
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly OMIM:185900
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Microphthalmia, Syndromic 12
Microphthalmia, Congenital diaphragmatic hernia, Anophthalmia OMIM:615524
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Hyperpigmented nevi, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral micr... OMIM:607597
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... ORPHA:163934
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Displacement of the urethral meatus ORPHA:893
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Isolated Aniridia
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Brachydactyly, Type A2
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... OMIM:112600
Waardenburg Syndrome, Type 2A
Synophrys, White eyelashes, White eyebrow, Hypoplastic iris stroma, Heterochromia iridis OMIM:193510
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Bartsocas-Papas Syndrome
Absent thumb, Aplasia/Hypoplasia of the eyebrow, Finger syndactyly, Ankyloblepharon, Renal hypopl... ORPHA:1234
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Renal agenesis, Broad thumb, Chorioretinal coloboma, Type B brachydactyl... ORPHA:1471
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Epicanthus, Synophrys, Radioulnar synostosis, Clinod... ORPHA:3268
Chondrodysplasia-Disorder Of Sex Development Syndrome
Short phalanx of finger, Short metacarpal, Blepharophimosis, Hypoplasia of the iris, Abnormal pel... ORPHA:1422
Bardet-Biedl Syndrome 14
Polydactyly, Renal insufficiency OMIM:615991
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
2-3 toe syndactyly, Horizontal eyebrow, Short 5th finger, Long eyelashes, Clinodactyly of the 5th... OMIM:618608
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Intermediate Uveitis
Tubulointerstitial nephritis, Macular edema, Vitreous haze, Posterior synechiae of the anterior c... ORPHA:279914
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Acrofacial Dysostosis, Cincinnati Type
Flared lower limb metaphysis, Downslanted palpebral fissures, Macrotia, Anotia, Microtia, Acetabu... OMIM:616462
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Thick corpus callosum, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial han... OMIM:615938
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Syndactyly-Polydactyly-Earlobe Syndrome
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... OMIM:186350
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Micropenis, Brachydactyly OMIM:615983
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Frontonasal Dysplasia 3
Upper eyelid coloboma, Absent eyebrow, Microphthalmia, Low-set ears, Sparse eyelashes, Posteriorl... OMIM:613456
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Nephrotic syndrom... OMIM:609049
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 2nd toe, Brachydactyly, Postaxial hand polydactyly, Short thumb, Glandular hypospadias OMIM:176305
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology, Sparse lateral eyebrow ORPHA:170
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... ORPHA:3163
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Ablepharon-Macrostomia Syndrome
Cryptophthalmos, Microtia, third degree, Short metacarpal, Cutaneous finger syndactyly, Absent ey... OMIM:200110
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Absent thumb, Alopecia totalis, Cupped ear, Talipes equinovarus, Hypopla... OMIM:263650
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Coxa valga, Abnormally prominent line of Schwalbe, Hip dislocation, Absent extrao... OMIM:109120
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse eyebrow, Sparse scalp hair, Joint contracture of the hand, 2-3 finger syndactyly, 2-4 fing... OMIM:225280
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, 3-4 finger cutaneous syndactyly, Short thumb, Talipes equinovarus OMIM:613681
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia ORPHA:2440
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal cardiac septum morphology, Upper limb phocomelia, Syndactyly, Abnormal hear... ORPHA:294975
Oculocerebrocutaneous Syndrome
Alopecia, Anophthalmia, Congenital hip dislocation, Eyelid coloboma, Microphthalmia, Orbital cyst OMIM:164180
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
15Q11Q13 Microduplication Syndrome
Downslanted palpebral fissures, Clinodactyly of the 5th finger, Finger syndactyly, Epicanthus ORPHA:238446
Aniridia And Absent Patella
Cataract, Aplasia/Hypoplasia of the patella, Aniridia OMIM:106220
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Hand clenching, Toe syndactyly, Bullet-s... ORPHA:1617
Cataract, Long eyelashes OMIM:190330
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Unilateral renal agenesis, Corneal opacity, Telecanthus, Aniridia ORPHA:1064
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Iris coloboma, Peters anomaly, Micr... OMIM:610023
Distal Monosomy 6P
Downslanted palpebral fissures, Posterior embryotoxon, Short foot, Epicanthus, Hypoplasia of the ... ORPHA:96125
Hydrolethalus Syndrome 2
Ventriculomegaly, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot polydacty... OMIM:614120
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... ORPHA:488232
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Aniridia-Absent Patella Syndrome
Ptosis, Cataract, Aplasia/Hypoplasia of the patella, Aniridia ORPHA:1069
Megalocornea-Intellectual Disability Syndrome
Metatarsus valgus, Downslanted palpebral fissures, Genu varum, Megalocornea, Tapered finger, Epic... ORPHA:2479
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... OMIM:614195
Meckel Syndrome, Type 10
Dilated fourth ventricle, Cerebellar hypoplasia, Ulnar deviation of the hand, Anencephaly, Campto... OMIM:614175
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand OMIM:313350
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Alopecia, Triphalangeal thumb, Finger syndactyly, Short thumb, Fingernai... ORPHA:2251
Biemond Syndrome Type 2
Hypospadias, Hydrocephalus, Coloboma, Preaxial polydactyly ORPHA:141333
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... OMIM:221900
Cutis Laxa, Autosomal Dominant 3
Hip dislocation, Unilateral renal agenesis, Developmental cataract, Aortic regurgitation, Adducte... OMIM:616603
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela... OMIM:214450
Barber-Say Syndrome
Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Ablepharon, Hearing impairment, Ectropion, Abn... ORPHA:1231
Deafness, X-Linked 7
Unilateral microphthalmos, Ptosis, Hearing impairment, Stenosis of the external auditory canal, T... OMIM:301018
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Anophthalmia Plus Syndrome
Anophthalmia, Aplasia/Hypoplasia of the earlobes, Blepharophimosis, Eyelid coloboma, Low-set, pos... ORPHA:1104
Nivelon-Nivelon-Mabille Syndrome
Short phalanx of finger, Short metacarpal, Hypoplasia of the iris, Brachydactyly, Upslanted palpe... OMIM:600092
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Hidrotic Ectodermal Dysplasia
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ... ORPHA:189
Frontofacionasal Dysplasia
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Limbal dermoid, Microcorne... ORPHA:1791
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... OMIM:609432
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Cryptophthalmos, Abnormality of skin pigmentation, Microtia, Absent eyel... ORPHA:920
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Downslanted palpebral fissures, Brushfield spots, Aplasia/Hypoplasia of ... ORPHA:1784
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Bardet-Biedl Syndrome 10
Renal cyst, Polydactyly, Renal insufficiency OMIM:615987
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity, M... ORPHA:290
D-Lactic Aciduria With Gout
Downslanted palpebral fissures, Aniridia, Lacticaciduria OMIM:245450
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Wide nasal bridge, Toe syndactyly, Preaxial foot po... ORPHA:380
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Xeroderma Pigmentosum, Complementation Group D
Conjunctivitis, Telangiectasia, Entropion, Keratoconjunctivitis sicca, Corneal neovascularization... OMIM:278730
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... OMIM:612109
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Fraser Syndrome 3
Short toe, Cryptophthalmos, Simple ear, Low-set ears, Cutaneous syndactyly OMIM:617667
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... OMIM:602482
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Toenail dysplasia, Hypoplastic toenails, Short toe, ... OMIM:615297
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Hematuria, Ptosis, Cataract, Iris coloboma, Corneal opacity... ORPHA:1473
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
WAGR 11p13 deletion syndrome
Renal neoplasm, Aniridia DECIPHER:35
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly OMIM:610140
Idiopathic Panuveitis
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... ORPHA:280921
Orofaciodigital Syndrome Xviii
Urinary incontinence, Genu valgum, Wide nasal bridge, Single transverse palmar crease, Preaxial p... OMIM:617927
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... ORPHA:209959
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Acropectoral Syndrome
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx OMIM:605967
Bartsocas-Papas Syndrome 2
Small hand, 2-5 finger cutaneous syndactyly, Ankyloblepharon, Axillary pterygium, Antecubital pte... OMIM:619339
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Eyelid coloboma, Microphthalmia, Nasolacrimal duct obstruction, Abnormal hair morph... OMIM:248450
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... OMIM:217800
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma, Conductive hearing impairment, Preauricula... OMIM:618939
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Trisomy 13
Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology... ORPHA:3378
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Donnai-Barrow Syndrome
Short sternum, Downslanted palpebral fissures, Non-acidotic proximal tubulopathy, Hypoplasia of t... OMIM:222448
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Abnormal ey... OMIM:206920
Nager Syndrome
Triphalangeal thumb, Downslanted palpebral fissures, Aplasia/Hypoplasia of the thumb, Aplasia/Hyp... ORPHA:245
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Ablepharon, Cataract, Rocker bottom foot OMIM:616038
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Megalocornea-Mental Retardation Syndrome
Downslanted palpebral fissures, Genu valgum, Megalocornea, Epicanthus, Hypoplasia of the iris, Ar... OMIM:249310
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Wide nasal bridge, Broad hallux, Postaxial hand polydactyly, Scaphocephaly, Pre... OMIM:175700
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Progressive microcephaly, M... OMIM:616486
Tietz Syndrome
Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o... ORPHA:42665
Duane Retraction Syndrome
Blepharospasm, Camptodactyly, Hypoplastic iris stroma, Iris coloboma, Talipes equinovarus, Short ... ORPHA:233
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Pelvic kidney, Microphthalmia, Sclerocor... OMIM:613001
Autosomal Recessive Primary Microcephaly
Upslanted palpebral fissure, Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Cataract 42
Cataract, Developmental cataract OMIM:115900
Brachydactyly-Syndactyly, Zhao Type
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... ORPHA:93409
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Lacrimal duct aplasia, Split foo... DECIPHER:46
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly, Hypoplasia of th... OMIM:615937
Hypotrichosis 1
Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar... OMIM:605389
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... OMIM:309630
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Polydactyly, Postaxial, Type A7
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... OMIM:617642
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Cone/cone-rod dystrophy, Retinal atrophy, Narrow greater sciatic notch, ... ORPHA:85167
Zechi-Ceide Syndrome
Short metatarsal, Conductive hearing impairment, Thick hair, Small nail, Microtia, Atrial septal ... ORPHA:217017
Meckel Syndrome, Type 8
Polydactyly, Encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia, Low-set ears, Occ... OMIM:613885
Focal Dermal Hypoplasia
Camptodactyly of finger, Toe syndactyly, Ectopia lentis, Upper limb asymmetry, Iris coloboma, Mul... ORPHA:2092
Fibular Hemimelia
Hip subluxation, Short tibia, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... ORPHA:93323
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones OMIM:600384
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Piebaldism, Albinism, Congenital sensorineural hearing impair... OMIM:300700
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Joubert Syndrome 18
Arrhinencephaly, Talipes equinovarus, Camptodactyly, Renal cyst, Horseshoe kidney, Occipital ence... OMIM:614815
Fraser Syndrome 1
Cryptophthalmos, Conductive hearing impairment, Malformed lacrimal duct, Extension of hair growth... OMIM:219000
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... ORPHA:54
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Brachycephaly, Crossed fused renal ectopia, Unilateral renal agenesis, Lissencephaly, Overlapping... OMIM:618142
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Ptosis, Syndactyly, Upper eyelid coloboma, Thick eyebrow, Hearing... OMIM:619736
White Forelock With Malformations
White forelock, Poliosis, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Redundant neck skin, Hydranencephaly, Hol... OMIM:617967
Axenfeld-Rieger Syndrome
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Hypospadias, Abnormal anterior chamber mor... ORPHA:782
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Limbal stem cell deficiency, Corneal neovascularization, Finger joint h... OMIM:615225
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin pat... ORPHA:998
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... ORPHA:39044
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Sensorineural hearing impairment, Premature gray... OMIM:619947
Trisomy 12P
Aplasia/Hypoplasia affecting the eye, Large hands, Epicanthus, Aplasia/Hypoplasia of the iris, Cl... ORPHA:1699
Congenital Microcoria
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... ORPHA:566
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Distal Monosomy 17Q
Aplasia/Hypoplasia of the thumb, Melanocytic nevus, Small hand, Abnormal cardiac septum morpholog... ORPHA:1597
Ventriculomegaly And Arthrogryposis
Hand clenching, Ventriculomegaly, Cerebellar hypoplasia, Ulnar deviation of the wrist, Agenesis o... OMIM:619501
Bardet-Biedl Syndrome 9
Polydactyly, Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, A... OMIM:615986
Distal Monosomy 13Q
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Anence... ORPHA:1590
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Cerebellar hypoplasia, Craniosynostosis, Arrhinencephaly, Hydrocephalus, L... ORPHA:1528
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency, Corneal opacity ORPHA:281090
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... ORPHA:2722
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Brachycephaly, Ventriculomegaly, Wide nasal bridge, Optic nerve hypopla... OMIM:603671
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm ORPHA:261102
Corneal opacity, Cherry red spot of the macula ORPHA:351
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Rieger anomaly, Tapered finger, Abnormality of the kidney, Primary congenital glaucoma, Buphthalm... ORPHA:521445
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Sensorineural hearing impairment, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalang... ORPHA:3152
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand poly... ORPHA:2091
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Galloway-Mowat Syndrome 1
Hand clenching, Renal insufficiency, Optic atrophy, Epicanthus, Nephrotic syndrome, Hypoplasia of... OMIM:251300
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, Abnormality of the ear, White forelock, Het... OMIM:172800
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Talipes equinovarus, Hydran... OMIM:605013
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Weakness of the intrinsic hand muscles OMIM:160565
Hypomelanosis Of Ito
Epicanthus, Clinodactyly, Hand polydactyly, Syndactyly, Iris coloboma, Radial deviation of finger... OMIM:300337
Laurence-Moon Syndrome
Finger syndactyly, Epicanthus, Hypoplasia of penis, Hand polydactyly, Brachydactyly, Iris colobom... ORPHA:2377
Idiopathic Anterior Uveitis
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... ORPHA:280914
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Renal cyst, Bilateral triphalangeal thumbs OMIM:138790
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Leukocoria, Short lower limbs, Hypertension, Bowing of the legs, Retinal detachment OMIM:219250
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Sparse scalp hair, Macrotia, Pili torti, Trichorrhexis nodosa, Abnormal finger mo... ORPHA:113
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... ORPHA:1908
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane, Brachydactyly ORPHA:79414
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Right aortic arch, Aortopulmon... OMIM:618780
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Optic atrophy, Developmental cataract ORPHA:2572
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short palpebral fissure, Short toe, Hypoplastic toenails, Curved distal phalanx of the thumb, Tri... ORPHA:370010
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Epicanthus, Cataract, Chorioretinal coloboma, Short thumb ORPHA:2489
Brachydactyly, Type A1, C
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... OMIM:615072
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Abnormality of skin pigmentation, Epicanthus, Camptodactyly o... OMIM:300244
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele, Tetralogy of Fallot OMIM:613630
Richieri-Costa/Guion-Almeida Syndrome
Downslanted palpebral fissures, Palmoplantar cutis laxa, Ptosis, Iris coloboma, Eyelid coloboma, ... OMIM:268850
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Hand monodactyly, Split foot, Cataract, Split hand OMIM:183800
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Short foot, Small hand, Synophrys, Short finger, Clinodactyly, Radial deviation o... OMIM:270450
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Triphalangeal thumb, Absent forearm, Talipes equinovarus, Clinodactyly, Deep-set nai... OMIM:201170
Hec Syndrome
Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract, Arrhythm... ORPHA:2119
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Abnormal foot morphology, Toe syndactyly, Spina bifida occulta, ... ORPHA:64754
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the upper limb, Clinodactyly of the 5th finger, Atrial septal defect, Oligodactyly... ORPHA:521308
Arthrogryposis, Distal, Type 2B2
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... OMIM:618435
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Punctate keratitis, Palmoplantar hyperkeratosis, Corneal neovasculari... OMIM:617388
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Cutaneous finger synda... OMIM:613573
Oculocerebrocutaneous Syndrome
Finger syndactyly, Hand polydactyly, Ptosis, Iris coloboma, Eyelid coloboma, Congenital hip dislo... ORPHA:1647
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract OMIM:604219
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasia, Primary microce... OMIM:618266
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Supernumerary nipple, Fine hair, Abnormality of retinal pigmentation, Abnormal... ORPHA:1433
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Hypopigmentation of the fundus, Heterochromia iridis, Blue irides OMIM:103500
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Waardenburg Syndrome, Type 2E
Ocular albinism, White eyelashes, Iris hypopigmentation, White eyebrow, Hypoplasia of the iris, H... OMIM:611584
Brachydactyly Type A4
Symphalangism affecting the phalanges of the hand, Short middle phalanx of the 5th finger, Short ... ORPHA:93394
Lacrimoauriculodentodigital Syndrome
Absent thumb, Toe syndactyly, Keratoconjunctivitis sicca, Abnormal lacrimal gland morphology, Rec... ORPHA:2363
Dermoids Of Cornea
Corneal opacity OMIM:304730
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair ORPHA:55654
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Hypoplastic toenails,... ORPHA:1113
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Hydronephrosis, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone... ORPHA:2839
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Unilateral narrow palpebral fissure, Clinodactyly, Brachydactyly, Broad hallux, As... OMIM:618727
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly ORPHA:2730
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Catel-Manzke Syndrome
Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Clinodactyly of the 5th fi... ORPHA:1388
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Knee flexion contracture, Unilateral wrist flexion contracture, Perisylvian polymicrogyria, Ventr... OMIM:616531
Ventriculomegaly, Wide nasal bridge, Midface retrusion, Holoprosencephaly, Fibular bowing, Depres... OMIM:612651
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:120433
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Short Syndrome
Megalocornea, Rieger anomaly, Enlarged epiphyses, Slender long bone, Clinodactyly, Astigmatism, C... OMIM:269880
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Winchester Syndrome
Carpal osteolysis, Broad metacarpals, Corneal opacity, Osteolysis involving tarsal bones OMIM:277950
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
3Q29 Microduplication Syndrome
Downslanted palpebral fissures, Toe syndactyly, Camptodactyly of toe, Aniridia, Iris coloboma, Ca... ORPHA:251038
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Overhanging nasal tip, Convex nasal ridge, Small hand, Cone-shaped epiphyses of the phalanges of ... ORPHA:85172
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Genu valgum, Hip contracture, Posterior embryotoxon, Epicanthus, Bilateral renal agenesis, Hypopl... OMIM:619194
17Q21.31 Microduplication Syndrome
Toe syndactyly, Clinodactyly of the 5th finger, Short nose, Sandal gap, Microcephaly, Anteverted ... ORPHA:217340
Witkop Syndrome
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair OMIM:189500
Wilson-Turner Syndrome
Tapered finger, Short foot, Small hand, Microtia, Uplifted earlobe, Thick eyebrow ORPHA:3459
Coats Disease
Leukocoria, Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Short toe, Melanocytic nevus, Hallux valgus, Microtia, Spina bifida, Syn... ORPHA:1327
Coxoauricular Syndrome
Hip dislocation, Hearing impairment, Microtia OMIM:122780
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia... ORPHA:2890
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Chromosome 13Q33-Q34 Deletion Syndrome
Brachycephaly, Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly, Overl... OMIM:619148
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Conductive hearing impairment, Hypoplasia of the radius, Radiouln... OMIM:263750
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma, Conductive hearing impairment, Microtia OMIM:248390
Mandibulofacial Dysostosis With Alopecia
Alopecia, Conductive hearing impairment, Microtia, Stenosis of the external auditory canal, Spars... OMIM:616367
Ring Chromosome 8 Syndrome
Short nose, Frontal bossing, Abnormality of the ureter, Anteverted nares, Deviation of finger, Hy... ORPHA:1450
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, Short metacarpal, Epicanthus, Broad phalanx, Broad metacarpals, Sparse hair OMIM:618724
Waardenburg Syndrome, Type 1
Blepharophimosis, Synophrys, White eyelashes, White eyebrow, Hypoplastic iris stroma, Hypopigment... OMIM:193500
Dubowitz Syndrome
Short palpebral fissure, Megalocornea, Sparse lateral eyebrow, Rod-cone dystrophy, Epicanthus, Bl... OMIM:223370
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Renal cyst, Postaxial hand polydactyly, M... OMIM:611134
Abruzzo-Erickson Syndrome
Short toe, Epicanthus, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Microcor... ORPHA:921
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Renal cyst, Brachydactyly OMIM:615982
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... OMIM:615059
Sweeney-Cox Syndrome
Small nail, Low-set ears, Bilateral talipes equinovarus, Microtia, Crumpled ear, 2-5 toe syndacty... OMIM:617746
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dolichocephaly, Frontal bossing, Dandy-Walker malformation,... ORPHA:1538
Nephronophthisis 11
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Retinal dege... OMIM:613550
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Coxa valga, Hip dysplasia, Acetabular dysplasia, Talipes equinovarus OMIM:613618
Proboscis Lateralis
Abnormal nasolacrimal system morphology, Epicanthus, Abnormality of the ocular adnexa, Optic nerv... ORPHA:141099
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasi... ORPHA:91495
Abnormal pupil morphology, Abnormal eyebrow morphology, Blepharophimosis, Microcornea, Iris coloboma ORPHA:3374
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae ORPHA:1885
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Even-Plus Syndrome
Patent foramen ovale, Microtia, Synophrys, Atrial septal defect, Epiphyseal dysplasia, Dysplasia ... OMIM:616854
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Unilateral renal agenesis, Hydranencephaly, Microcephaly, Short distal... OMIM:601355
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Adams-Oliver Syndrome 3
Short palpebral fissure, 2-3 toe syndactyly, Short 5th toe, Short distal phalanx of finger, Absen... OMIM:614814
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Aplasia of the nasal bone, Colpocephaly, Short nose, Acrania, Syndactyl... OMIM:618820
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Hydrocephalus, Alopecia universalis, Abno... ORPHA:1008
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Ureteral atresia, Unilateral renal agenesis, Bilateral renal agenesis OMIM:618845
Microphthalmia ORPHA:35612
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Arrhinencephaly, Radioulnar synostosis, Abnormal pelvic g... ORPHA:1788
Cenani-Lenz Syndrome
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Absent toenail, Absent fingernail, Synostos... ORPHA:3258
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Aqueductal stenosis, Humeroradial synostosis, Pulmonary hypoplasia, Ol... OMIM:251230
Carpenter Syndrome
Umbilical hernia, Polydactyly, Genu valgum, Oxycephaly, Finger syndactyly, Turricephaly, Toe synd... ORPHA:65759
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... ORPHA:3216
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Downslanted palpebral fissures, Abnormality of the elbow, Epicanthus, Abnorm... ORPHA:2673
Oculodentodigital Dysplasia, Autosomal Recessive
Short palpebral fissure, Downslanted palpebral fissures, Small hand, Persistent pupillary membran... OMIM:257850
Nanophthalmos 4
Microphthalmia OMIM:615972
Hartsfield Syndrome
Downslanted palpebral fissures, Ptosis, Aplasia/Hypoplasia of the radius, Microphthalmia, Split h... ORPHA:2117
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Microtia, Synophrys, Clinodactyly, Hypoplasia of the ulna, Hirsutism, Low-set ears ORPHA:357175
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Adducted thumb, Pes cavus, Microcep... OMIM:303350
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch OMIM:231060
Foveal Hypoplasia 2
Posterior embryotoxon, Foveal hyperpigmentation, Optic nerve misrouting, Axenfeld anomaly, Astigm... OMIM:609218
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment, Abnormal eyelid morphology, Finger syndactyly, Euryblepharon, Abno... ORPHA:1997
Scalp-Ear-Nipple Syndrome
2-3 toe syndactyly, Epicanthus, Iris coloboma, Telecanthus, Blepharophimosis, Pyelonephritis, Dev... OMIM:181270
Anencephaly 2
Anophthalmia OMIM:619452
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... ORPHA:1106
Short toe, Congenital finger flexion contractures, Urinary incontinence, Hand polydactyly, Syndac... OMIM:114150
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Femur-Fibula-Ulna Complex
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... ORPHA:2019
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Weiss-Kruszka Syndrome
Horizontal crus of helix, Ventricular septal defect, Microtia, Bicuspid aortic valve, Left ventri... OMIM:618619
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Humeroradial synostosis, Oligodactyly OMIM:614416
Johnson Neuroectodermal Syndrome
Alopecia, Conductive hearing impairment, Preaxial hand polydactyly, Microtia, Absent eyelashes, H... ORPHA:2316
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Ventriculomegaly, Radial bowing, Polycystic kidney dysplasia, Hydrocephalus, ... OMIM:617866
Fraser Syndrome
Cryptophthalmos, Conductive hearing impairment, Anophthalmia, Wide pubic symphysis, Finger syndac... ORPHA:2052
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma, Hydrocephalus OMIM:210350
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Downslanted palpebral fissures, Phakodonesis, Anterior synechiae of the anterior chamber, Short f... OMIM:601552
1Q21.1 Microduplication Syndrome
Hip dysplasia, Hydrocephalus, Hip dislocation, Frontal bossing, Hypospadias, Talipes equinovarus ORPHA:250994
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Cerebral cortical atrophy, Aplasia... ORPHA:2570
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Craniosynostosis, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, ... OMIM:218670
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Sensorineural hearing impairment, Premature graying of hair, Joint contr... OMIM:148820
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Microphthalmia, Hypogonadism, Epicanthus ORPHA:2528
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Talipes equinovarus, Microphthalmia, Rocker bottom foot OMIM:616570
Waardenburg Syndrome Type 2
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, Ptosis, ... ORPHA:895
20P12.3 Microdeletion Syndrome
Microtia, Wolff-Parkinson-White syndrome, Atrial septal defect, Broad thumb, Broad hallux phalanx... ORPHA:261295
Blepharocheilodontic Syndrome 2
Lagophthalmos, Euryblepharon, Nail dysplasia, Distichiasis, Ectropion of lower eyelids, Cutaneous... OMIM:617681
Cat-Eye Syndrome
Downslanted palpebral fissures, Renal hypoplasia/aplasia, Hip dysplasia, Iris coloboma, Abnormal ... ORPHA:195
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Short nose, Cubitus valgus, Short foot OMIM:300577
Braddock-Carey Syndrome 2
Downslanted palpebral fissures, Clinodactyly, Microphthalmia, Hearing impairment, Atresia of the ... OMIM:619981
Burn-Mckeown Syndrome
Short palpebral fissure, 2-3 toe syndactyly, Conductive hearing impairment, Blepharophimosis, Low... OMIM:608572
Pallister-Hall Syndrome
Mesoaxial foot polydactyly, Neonatal death, Short 4th metacarpal, Ventricular septal defect, Micr... OMIM:146510
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Absent fifth fingernail, Triphalangeal thumb, Small nail, Sensorineural hearing impairment, Absen... OMIM:124480
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Ventriculomegaly, Wide nasal bridge, Ulnar deviation of the wrist, ... OMIM:618577
Moebius Syndrome
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Epica... OMIM:157900
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Retinal dystrophy, Microcornea, Postaxial foot polydactyly, Iris... ORPHA:139471
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Sparse eyebrow, 2-3 toe syndactyly, Long palpebral fissure, 3-4 finger syndactyly, Dry skin OMIM:600906
Intellectual Developmental Disorder, Autosomal Recessive 35
Microtia, Synophrys, Clinodactyly, Hypoplasia of the ulna, Hirsutism, Low-set ears OMIM:615162
Vitamin K Antagonist Embryofetopathy
Aplasia/Hypoplasia affecting the eye, Myelomeningocele, Microtia, Hydrocephalus, Epiphyseal stipp... ORPHA:1914
Summitt Syndrome
Syndactyly OMIM:272350
Temtamy Syndrome
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly, Low-set ear... ORPHA:1777
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Epicanthus, Clinodactyly, Camptodactyly, Osteolysis involving bones o... ORPHA:88630
Cerebrooculonasal Syndrome
Sparse eyebrow, Macrotia, Anophthalmia, Abnormal tragus morphology, Postaxial hand polydactyly, L... ORPHA:66625
Ectodermal Dysplasia-Syndactyly Syndrome 2
Macrotia, Syndactyly, Cardiomegaly, Palmoplantar keratoderma, Sparse hair OMIM:613576
Brachydactyly, Type B2
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... OMIM:611377
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... ORPHA:3250
Pierpont Syndrome
High anterior hairline, Short toe, Macrotia, Short finger, Narrow palpebral fissure, Hearing impa... ORPHA:487825
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, Atrioventricular canal defect, Aplasia/Hypoplasia affecting the eye, Conduct... ORPHA:2549
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Atrioventricular canal defect, Preaxial hand polydactyly, Tricuspid regurgit... ORPHA:1120
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Turricephaly, Wide nasal bridge, 2-5... OMIM:601224
Rubinstein-Taybi Syndrome 2
Short 5th toe, Downslanted palpebral fissures, Short first metatarsal, Epicanthus, Long eyelashes... OMIM:613684
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Hematuria, Corneal neovascularization, Cataract, Opacification of the corne... OMIM:158310
Postaxial hand polydactyly, Split foot, Split hand OMIM:225290
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... OMIM:180104
Warburg-Cinotti Syndrome
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Epicanthus, Blepharop... OMIM:618175
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Preaxial hand polydactyly, Microtia... ORPHA:79113
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Glue ear, Recurrent respiratory infections, Secundum atrial septal defect, Clinodactyly of the 5t... OMIM:619758
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Renal cyst, Postaxial hand polydactyly, Bow... OMIM:603194
Deafness, Congenital, With Total Albinism
Albinism, Hearing impairment OMIM:220900
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Alopecia of scalp, ... OMIM:617294
Neural Tube Defects, Susceptibility To
Urinary incontinence, Myelomeningocele, Anencephaly, Hydrocephalus, Spina bifida occulta OMIM:182940
Nephroblastoma, Hematuria, Hypertension, Aniridia ORPHA:654
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Blepharophimosis, Ankyloblepharon, Microcornea, Ptosis, Iris colobom... OMIM:229400
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Hip dislocation, L... OMIM:203550
Laurin-Sandrow Syndrome
Toe syndactyly, Abnormality of the wrist, Fibular duplication, Prominent nose, Preaxial foot poly... ORPHA:2378
Microphthalmia, Syndromic 13
Microcornea, Ptosis, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:300915
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Sensorineural hearing impairment, Finger syndactyly, Epicanthus, Abnormality of the wrist, Hypopi... ORPHA:1825
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Frontonasal Dysplasia 1
Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Joint cont... OMIM:136760
Mullegama-Klein-Martinez Syndrome
High anterior hairline, Polydactyly, Sensorineural hearing impairment, Abnormal cardiac septum mo... OMIM:301022
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Widow's peak, Interphalangeal joint contracture of finger, Thick eyebr... OMIM:606242
Congenital Varicella Syndrome
Atypical scarring of skin, Microphthalmia ORPHA:291
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Otoonychoperoneal Syndrome
Abnormal antihelix morphology, Macrotia, Aplasia/Hypoplasia of the earlobes, Underfolded helix, A... ORPHA:2793
Kid Syndrome
Conjunctivitis, Sparse eyebrow, Coxa valga, Corneal erosion, Patellar hypoplasia, Keratitis, Limb... ORPHA:477
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Microtia, Brachydactyly, Broad thumb, Abnormal hair pattern, Bilateral... ORPHA:1770
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Abnormal eyelid morphology, Abnormal metacarpal morphology, Upper ... ORPHA:2095
Spastic Paraplegia 47, Autosomal Recessive
Abnormal periventricular white matter morphology, Ventriculomegaly, Wide nasal bridge, Acetabular... OMIM:614066
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Nephropathy, Hypospadias, Renal insufficiency, Aniridia OMIM:194072
Pierpont Syndrome
High anterior hairline, Short toe, Short foot, Unilateral narrow palpebral fissure, Blepharophimo... OMIM:602342
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Turricephaly, Toe syndactyly, Hydrocephalus, Radioulnar synostosis, Abnormal septu... ORPHA:171839
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Wide nasal bridge, Clinodactyly, Spindle-shaped finger, Frontal bossing, Cerebral at... ORPHA:166024
Arthrogryposis, Distal, Type 7
Cutaneous syndactyly of toes, Hip dislocation, Metatarsus adductus, Hammertoe, Talipes equinovarus OMIM:158300
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Synophrys, Long eyelashes, Large earlobe, Prominent ear helix, Thick eyebrow, Low a... ORPHA:411986
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Trisomy 9P