Not currently registered for phenotyping at IMPC

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

Gene Summary

heparan sulfate 2-O-sulfotransferase 1

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 Hs2st1 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 Hs2st1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Microdontia, Elbow flexion contracture, Broad distal phalanx of the toes, Anterior polar cataract... OMIM:619194

The table below shows human diseases predicted to be associated to Hs2st1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Thoracic scoliosis, Cervi... OMIM:613702
Abruzzo-Erickson Syndrome
Short toe, Coloboma, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Microcorne... ORPHA:921
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma, Cleft palate OMIM:120433
Kniest Dysplasia
Dumbbell-shaped long bone, Vitreoretinopathy, Keratan sulfate excretion in urine, Short neck, Enl... ORPHA:485
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Abnormality of skin pigmentation, Multiple joint contractures... OMIM:300244
Hypomelanosis Of Ito
Kyphosis, Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Macular hypopigmented whorls... OMIM:300337
Kahrizi Syndrome
Knee flexion contracture, Thoracic kyphosis, Elbow contracture, Cataract, Iris coloboma, Thick ve... OMIM:612713
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... OMIM:618469
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Hematuria, Cataract, Iris coloboma, Corneal opacity, Chorio... ORPHA:1473
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Delayed eruption of teeth, Ectopia lentis, Iris coloboma, Cleft palate, Genu ... ORPHA:2712
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Iris coloboma, Peters ano... OMIM:610023
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... ORPHA:370010
Temtamy Syndrome
Short toe, Genu varum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Iris coloboma, ... ORPHA:1777
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormality of the vertebral column, ... ORPHA:294975
Cat-Eye Syndrome
Hip dysplasia, Anal atresia, Iris coloboma, Chorioretinal coloboma, Abnormal rib morphology, Hydr... ORPHA:195
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormality of the wrist, Limitation of joint m... ORPHA:3265
Keratoconus Posticus Circumscriptus
Vesicoureteral reflux, Cleft upper lip, Clinodactyly of the 5th finger, Abnormal vertebral segmen... OMIM:244600
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Select... OMIM:305620
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Wrist pain, Abnormal morphology of the radius, Radioulnar sy... ORPHA:3269
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Abnormal sacrum morphology, Scoli... ORPHA:1436
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract, Chorioretinal coloboma OMIM:274205
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Laurence-Moon Syndrome
Finger syndactyly, Hand polydactyly, Hypoplasia of penis, Brachydactyly, Iris coloboma, Cataract,... ORPHA:2377
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Microcornea, White forelock, Iri... OMIM:601706
Linear Verrucous Nevus Syndrome
Retinopathy, Short metacarpal, Toe syndactyly, Iris coloboma, Abnormal cornea morphology, Catarac... ORPHA:2611
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, ... ORPHA:88630
Biemond Syndrome Ii
Iris coloboma, Preaxial hand polydactyly OMIM:210350
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Iris colob... OMIM:607323
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Fused cervical v... ORPHA:3320
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Short 1st metacarpal, Ectopic ossification in ligament tissue,... OMIM:135100
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Distal Trisomy 18Q
Camptodactyly of finger, High palate, Progressive intervertebral space narrowing, Abnormality of ... ORPHA:1716
Chromosome 8Q22.1 Duplication Syndrome
Short phalanx of finger, Hallux valgus, Short metacarpal, Limitation of joint mobility, Microcorn... OMIM:151200
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Metaphyseal striations, Bone spicule p... OMIM:618889
Bresek Syndrome
Vesicoureteral reflux, Aganglionic megacolon, Optic nerve hypoplasia, Iris coloboma, Renal hypopl... ORPHA:85284
Joint Laxity, Short Stature, And Myopia
Multiple joint dislocation, Cervical kyphosis, Joint hypermobility, Iris coloboma, Kyphoscoliosis... OMIM:617662
Renpenning Syndrome
Clinodactyly of the 5th finger, Short philtrum, Anal atresia, Abnormal thumb morphology, Iris col... ORPHA:3242
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma OMIM:616428
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microcornea, Iris coloboma, Kyphoscoliosis, Chorioretinal coloboma OMIM:300915
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Clinodactyly, Iris coloboma, Tooth agenesis, Osteopenia, Ectrodactyly, Micropeni... OMIM:147950
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Fused cervical vertebrae, Short neck, Scoliosis, Cleft palate, Cervical C2/C3 ve... OMIM:214300
Frontometaphyseal Dysplasia
Short diaphyses, Wrist flexion contracture, Short phalanx of finger, Camptodactyly of finger, Elb... ORPHA:1826
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Abnormal sacrum morphology, Abnormal vertebral segmentation and fusio... ORPHA:2345
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Epiphyseal stippling, High palate, Death in infancy OMIM:614882
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract,... ORPHA:3156
Verheij Syndrome
Vertebral fusion, Short 5th finger, Coloboma, Long philtrum, Clinodactyly, Hip dislocation, Renal... OMIM:615583
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Dislocated radial head, Iris coloboma, ... ORPHA:2839
Bardet-Biedl Syndrome 5
Polydactyly, Rod-cone dystrophy, Macular dystrophy, Syndactyly, Brachydactyly, Micropenis OMIM:615983
Trisomy 13
Optic atrophy, Aplasia/Hypoplasia of the iris, Median cleft lip, Iris coloboma, Abnormality of th... ORPHA:3378
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal dystrophy, Cataract, Brachydactyly, R... OMIM:615995
Acro-Renal-Ocular Syndrome
Coloboma, Toe syndactyly, Short distal phalanx of the thumb, Iris coloboma, Short hallux, Optic d... ORPHA:959
Bardet-Biedl Syndrome 10
Polydactyly, Rod-cone dystrophy, Retinal dystrophy, Renal cyst, Renal insufficiency OMIM:615987
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Abnormality of dental morphology, Abnormality ... ORPHA:2522
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Hypopigmented ski... ORPHA:1553
Gorlin Syndrome
Palmar pits, Arachnodactyly, Vertebral fusion, Melanocytic nevus, Vertebral wedging, Iris colobom... ORPHA:377
Brachydactyly, Type B1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... OMIM:113000
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Hand clenching, Coloboma, Bullet-shaped distal phalanx of the hallux, To... ORPHA:1617
Bardet-Biedl Syndrome 13
Polydactyly, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal ... OMIM:615990
Pelvis-Shoulder Dysplasia
Back pain, Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida... OMIM:169550
Congenital Disorder Of Glycosylation, Type Id
Flexion contracture, High palate, Joint contracture of the hand, Villous atrophy, Optic atrophy, ... OMIM:601110
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Prominent metopic ridg... OMIM:309620
Microphthalmia, Lenz Type
Camptodactyly of finger, Hyperlordosis, Complete duplication of thumb phalanx, Finger syndactyly,... ORPHA:568
Kapur-Toriello Syndrome
Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Clinodactyly of the 5th ... OMIM:244300
Zika Virus Disease
Wrist swelling, Conjunctivitis, Arthritis, Retinal pigment epithelial mottling, Abnormal optic di... ORPHA:448237
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Abn... OMIM:118100
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... ORPHA:90650
Wildervanck Syndrome
Fused cervical vertebrae, Lens subluxation, Short neck, Pseudopapilledema ORPHA:3456
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex OMIM:615147
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Bardet-Biedl Syndrome 14
Polydactyly, Renal insufficiency, Rod-cone dystrophy OMIM:615991
Microphthalmia With Brain And Digit Anomalies
High palate, Finger syndactyly, Retinal dystrophy, Microcornea, Postaxial foot polydactyly, Iris ... ORPHA:139471
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Ocular anterior segment dysgenesis, Hip dysplasia, Hypoplasia of penis, Iris coloboma, Short neck... OMIM:601427
Branchio-Oculo-Facial Syndrome
Non-midline cleft lip, Preaxial hand polydactyly, Multicystic kidney dysplasia, Coloboma, Upper l... ORPHA:1297
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Retinal detachment, Irregul... ORPHA:1856
Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis bone, Abnormal vertebr... ORPHA:66637
Orofaciodigital Syndrome Xviii
Urinary incontinence, Genu valgum, Short philtrum, Diastema, Cervical ribs, Accessory oral frenul... OMIM:617927
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Chorioretinal coloboma, Orofacial cleft OMIM:611638
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Patellar dislocation, Triangular shaped phalange... OMIM:618167
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic platyspondyly, Ab... ORPHA:166011
Mulibrey Nanism
Dental malocclusion, Enamel hypoplasia, Hypodontia, Thickened cortex of long bones, Astigmatism, ... OMIM:253250
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, High palate, Long philtrum, Acetabular dysplasia, E... OMIM:616549
Non-midline cleft lip, Finger syndactyly, Wide mouth, Hypoplasia of penis, Macroglossia, Intestin... ORPHA:3376
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Optic atrophy, Septo-optic dysplasia, Missing ribs, Anal atresia, M... ORPHA:3301
3C Syndrome
Ectopic anus, Optic atrophy, Iris coloboma, Short neck, Cleft palate, Orofacial cleft, Hand polyd... ORPHA:7
Cofs Syndrome
Camptodactyly of finger, Optic atrophy, Death in infancy, Abnormality of retinal pigmentation, Ev... ORPHA:1466
Bardet-Biedl Syndrome 4
Polydactyly, Rod-cone dystrophy, Retinal degeneration, Renal cyst, Syndactyly, Brachydactyly, Abn... OMIM:615982
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Short 5th finger, Coloboma, Abnormal optic disc morphology, Hip dislocation, ... ORPHA:508498
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Deep philtrum, Toe syndactyly, Camptodactyly of toe, Aniridia, Iris co... ORPHA:251038
Contractures-Developmental Delay-Pierre Robin Syndrome
Thoracolumbar scoliosis, Wrist flexion contracture, Abnormal finger morphology, Hip dysplasia, Ra... ORPHA:436003
Temtamy Syndrome
Long philtrum, Lens luxation, Hip dislocation, Ectopia lentis, Iris coloboma, Short 2nd toe, Chor... OMIM:218340
Stromme Syndrome
Jejunal atresia, Wide mouth, Retinal vascular tortuosity, Microcornea, Intestinal malrotation, Op... OMIM:243605
Bardet-Biedl Syndrome 9
Polydactyly, Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, A... OMIM:615986
Atelosteogenesis, Type I
Vertebral hypoplasia, Distal tapering femur, Short femur, Elbow dislocation, Short neck, Cleft pa... OMIM:108720
Anophthalmia Plus Syndrome
Non-midline cleft lip, Vertebral segmentation defect, Iris coloboma, Deviation of finger, Cleft p... ORPHA:1104
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Duane Retraction Syndrome
Patchy hypopigmentation of hair, Camptodactyly, Hypoplastic iris stroma, Spina bifida occulta, Ir... ORPHA:233
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Tapered finger, Coloboma, Toe syndactyly, Everted lower lip vermilion, I... ORPHA:251014
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Short long bone, Death in infancy, Vertebral segmentation defect... OMIM:618845
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Absent thumb, Cafe-au-lait spot, Short 1st metacarpal, Hypoplasia of the r... OMIM:609053
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Clinodactyly of the 5th finger, Down-sloping shoulders, Abnormality of retinal pigmentation, Abno... ORPHA:1390
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Hip dislocation, Cervica... OMIM:274000
Sifrim-Hitz-Weiss Syndrome
Vesicoureteral reflux, Tapered finger, Short femoral neck, Fused cervical vertebrae, Flat acetabu... OMIM:617159
Cohen Syndrome
Tapered finger, Optic atrophy, Iris coloboma, Tooth agenesis, Gingival overgrowth, Genu valgum, A... ORPHA:193
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Abruzzo-Erickson Syndrome
Cleft palate, Hypospadias, Radioulnar synostosis, Coloboma OMIM:302905
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Short... OMIM:619110
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Coloboma, Cone/cone-rod dystrophy, Retinal atrophy, Ovoid vertebral bodi... ORPHA:85167
Walker-Warburg Syndrome
Metatarsus valgus, Optic atrophy, Retinal dystrophy, Bifid uvula, Hypoplasia of penis, Submucous ... ORPHA:899
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Bifid tongue, Cleft soft palate, Bifid uvula, Abnormal oral frenulum morph... ORPHA:2919
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Coloboma, Absent distal pha... OMIM:120400
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Jeune Syndrome
Abnormal rib morphology, Toe syndactyly, Abnormality of retinal pigmentation, Abnormal pelvic gir... ORPHA:474
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Dental crowding, Lumbar scoliosis OMIM:108450
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... OMIM:303100
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, High palate, Hallux valgus, Generalized joint laxity, Facet joint arthrosis... OMIM:618000
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Non-midline cleft lip, Radioulnar synostosis, Clinodactyly of the 5th finger, Limitation of joint... ORPHA:2725
Cat-Eye Syndrome (Type I)
Iris coloboma, Anal atresia DECIPHER:42
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Halberd-shaped pelvis, Clino... ORPHA:2635
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of cranial sutures, Increased bone mineral density, Hypopigmentation of t... ORPHA:163649
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Spondylocarpotarsal Synostosis Syndrome
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Cleft palate,... OMIM:272460
Distal Monosomy 13Q
Aplasia/Hypoplasia of the thumb, Optic atrophy, Abnormal metacarpal morphology, Anal atresia, Iri... ORPHA:1590
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Fixed elbow flexion, Fragmented epiphyses, Dislocated radi... ORPHA:166016
Lamb-Shaffer Syndrome
Optic atrophy, Thoracic kyphosis, Hip dysplasia, Fused cervical vertebrae, Scoliosis, Thick vermi... ORPHA:530983
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Tricho-Retino-Dento-Digital Syndrome
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Abnormality of retinal pigmentation, Juve... ORPHA:1264
Apert Syndrome
Delayed cranial suture closure, Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus,... OMIM:101200
Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Hallux valgus, Multiple joint contractures, Patellar dislocation, Elbow flex... ORPHA:536471
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Arthropathy, Bifid uvula, Joint hypermobility, Cataract, Arachnodactyly, R... OMIM:604841
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Focal Dermal Hypoplasia
Camptodactyly of finger, Toe syndactyly, Ectopia lentis, Upper limb asymmetry, Iris coloboma, Too... ORPHA:2092
Aarskog-Scott Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Everted lower lip vermilion, Short neck, Clef... ORPHA:915
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall... OMIM:184460
Oculocerebrocutaneous Syndrome
Finger syndactyly, Wide mouth, Missing ribs, Hand polydactyly, Hypopigmented skin patches, Congen... ORPHA:1647
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... OMIM:212550
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Vertebral segmentation defect, Ky... OMIM:277300
Basal Cell Nevus Syndrome 1
Palmar pits, Polydactyly, Short 4th metacarpal, Short distal phalanx of the thumb, Iris coloboma,... OMIM:109400
Baraitser-Winter Syndrome 1
Cleft upper lip, Long philtrum, Wide mouth, Duplication of phalanx of hallux, Thin upper lip verm... OMIM:243310
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... ORPHA:231736
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, High palate, Long philtrum, Toe syndactyly, Foot polydactyly, Ankyloglossi... ORPHA:250989
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Increased susceptibility to fractures, Abnormal hand morphology, Sclerotic cranial sutures, Arthr... ORPHA:371428
Bardet-Biedl Syndrome 11
Polydactyly, Retinopathy OMIM:615988
Mucopolysaccharidosis, Type Ix
Hyperextensibility at wrists, Knee pain, Lumbar scoliosis, Finger joint hypermobility, Synovitis,... OMIM:601492
Joubert Syndrome 16
Polydactyly, Coloboma, Retinal dystrophy, Renal cyst, Nephronophthisis OMIM:614465
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Iris coloboma, Bifid uvula, High palate, Median cleft lip OMIM:155145
Eem Syndrome
Retinopathy, Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnor... ORPHA:1897
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Aganglionic megacolon, Iris coloboma, Hypospadias, Cleft palate ORPHA:66629
Crouzon Syndrome
Conjunctivitis, Narrow palate, Melanocytic nevus, Optic atrophy, Abnormal sacrum morphology, Hypo... ORPHA:207
Arthrogryposis, Distal, Type 5
Absent phalangeal crease, Congenital finger flexion contractures, Keratoglobus, Decreased palmar ... OMIM:108145
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Iris hypopigmentation, Anterior synechiae of the anterior chamber, Tau... ORPHA:3214
Achondrogenesis Type 2
Unossified sacrum, Abnormal bone ossification, Hypoplastic ilia, Pierre-Robin sequence, Short lon... ORPHA:93296
Stickler Syndrome, Type I
Bifid uvula, Vitreoretinopathy, Cleft palate, Beaking of vertebral bodies, Abnormal femoral epiph... OMIM:108300
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling, Glossoptosis, Death in infancy OMIM:614876
Bardet-Biedl Syndrome 16
Polydactyly, Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal degeneration, Renal cyst... OMIM:615993
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... OMIM:612109
Kbg Syndrome
Vertebral fusion, Long philtrum, Thoracic kyphosis, Oligodontia, Cervical ribs, Thin upper lip ve... ORPHA:2332
Mosaic Trisomy 20
Vertebral fusion, Hypopigmented streaks, Kyphosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Nizon-Isidor Syndrome
High, narrow palate, Short philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Iris ... OMIM:618872
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Cataract, Cleft palate, Short foot OMIM:300261
Autosomal Recessive Stickler Syndrome
Genu valgum, Irregular vertebral endplates, Vitreoretinopathy, Epiphyseal dysplasia, Astigmatism,... ORPHA:250984
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip, Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Rod-cone dystrophy, Clinodactyly, Narrow mouth, Postaxial polyda... OMIM:615984
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Cafe-au-lait spot, Esophageal atresia, Fused cervical vertebrae, Butterfly vertebrae, Unilateral ... OMIM:619227
Congenital Hydrocephalus
Macular hypoplasia, Iris coloboma, Optic atrophy ORPHA:2185
Trisomy 18
Camptodactyly of finger, Non-midline cleft lip, Narrow pelvis bone, Iris coloboma, Delayed skelet... ORPHA:3380
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Missing ribs, Bifid uvula, Abnormal ve... OMIM:184705
Hajdu-Cheney Syndrome
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Dislocated radial head, Iri... OMIM:102500
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... ORPHA:93315
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Sparse bone trabeculae, Hypophosphatemic rickets, Low-molecular-weight proteinu... OMIM:300554
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Esophageal atresia, Hypoplasia of penis, Abnormal vertebral morphology, Tracheo... ORPHA:77298
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Metaphyseal irregularity, Genu valgum, Thin bony cortex, Generalized bone demineraliz... OMIM:600785
Intellectual Developmental Disorder, Autosomal Dominant 52
High palate, Lumbar scoliosis, Short philtrum, Astigmatism, Downturned corners of mouth, Smooth p... OMIM:617796
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Narrow palate, Finger syndactyly, Corneal erosion, Delayed erupt... ORPHA:87
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Long philtrum, Kyphosis, Astigmatism, Hypospadias, Thin upper lip v... OMIM:615761
Joubert Syndrome With Oculorenal Defect
Foot polydactyly, Aganglionic megacolon, Retinal dystrophy, Hand polydactyly, Nephropathy, Iris c... ORPHA:2318
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Hyporeflective spaces on macular OCT, Ankle clonus, Central retinal vessel vascular tortuosity, R... ORPHA:506353
Joubert Syndrome With Ocular Defect
Foot polydactyly, Aganglionic megacolon, Retinal dystrophy, Hand polydactyly, Abnormal vertebral ... ORPHA:220493
Arthrogryposis, Distal, Type 3
Short phalanx of finger, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of th... OMIM:114300
Absence Deformity Of Leg-Cataract Syndrome
Hyperlordosis, Anal atresia, Lower limb undergrowth, Cataract, Scoliosis, Abnormality of femur mo... ORPHA:2310
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormality of retinal pigmentat... ORPHA:3019
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Flared iliac wing, Elbow dislocation, Sh... ORPHA:90652
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Shashi-Pena Syndrome
Short metacarpal, Kyphosis, Accelerated skeletal maturation, Unilateral renal agenesis, Osteoporo... OMIM:617190
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Palmoplantar cutis laxa, Spina bifida occulta, Iris coloboma, Abnormal digit mor... OMIM:268850
Orofaciodigital Syndrome Xvii
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... OMIM:617926
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Genu valgum, Joint dislocation, Recurrent fractures, Osteomalacia, Premature loss of ... ORPHA:93160
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl... ORPHA:65759
Axial Spondylometaphyseal Dysplasia
Peripheral retinal degeneration, Optic atrophy, Flattened femoral head, Aplasia/Hypoplasia of the... ORPHA:168549
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Curry-Jones Syndrome
Preaxial hand polydactyly, Lip pit, 2-3 finger syndactyly, Preaxial foot polydactyly, Intestinal ... OMIM:601707
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, High palate, Cafe-au-lait spot, Ankyloglossia, Adducted thumb, Thin upper lip ... OMIM:618874
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Stomatitis, Osteolysis, Periostitis, Osteopenia, Joint s... OMIM:612852
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... OMIM:127200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Kyphosis, Delayed ossification of carpal bones, Cataract, Brachydactyly, Redu... OMIM:618392
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Flynn-Aird Syndrome
Rod-cone dystrophy, Increased bone density with cystic changes, Increased bone mineral density, C... OMIM:136300
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Bardet-Biedl Syndrome 17
Polydactyly, Rod-cone dystrophy, Cone/cone-rod dystrophy, Stage 5 chronic kidney disease, Retinal... OMIM:615994
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Optic atrophy, Hip dysplasia, Astigmatism, Iris coloboma, Peters anomaly, ... ORPHA:494344
Hajdu-Cheney Syndrome
Patellar dislocation, Osteolysis, Iris coloboma, Short neck, Thin vermilion border, Cleft palate,... ORPHA:955
Donnai-Barrow Syndrome
Retinal dystrophy, Intestinal malrotation, Iris coloboma, Retinal detachment, Proteinuria ORPHA:2143
Frontometaphyseal Dysplasia 2
Bifid uvula, Camptodactyly, Elbow contracture, Dislocated radial head, Cleft palate, Talipes equi... OMIM:617137
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Cataract, Delayed skeletal maturation, Chorioretinal coloboma, Short thumb ORPHA:2489
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Dental malocclusion, Rod-cone dystrophy, Widely spaced teeth,... OMIM:616108
Chops Syndrome
Vesicoureteral reflux, Long philtrum, Optic atrophy, Cataract, Downturned corners of mouth, Horse... OMIM:616368
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Congenital Disorder Of Glycosylation, Type Ii
Iris coloboma, High palate, Joint laxity, Cataract OMIM:607906
Pai Syndrome
Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Iris coloboma, Cleft palate ORPHA:1993
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Short phalanx of finger, Genu valgum, Coxa valga, Retinal thinning, Asteroid hyalosis, Epiphyseal... OMIM:132450
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Genu valgum, Abnormality of the knee, Coxa vara, Short femoral neck, Abnor... ORPHA:93316
Sjögren-Larsson Syndrome
Retinopathy, Corneal erosion, Kyphosis, Macular degeneration, Generalized hyperpigmentation, Abno... ORPHA:816
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Microdontia, Abnormal optic disc morphology, Tibial deviation of the 2nd toe, Shor... ORPHA:363417
Camptodactyly of finger, Bifid tongue, Iris coloboma, Cataract, Scoliosis, Brachydactyly, Cleft p... ORPHA:391474
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Robinow Syndrome, Autosomal Dominant 2
Cleft soft palate, Camptodactyly, Cleft palate, Gingival overgrowth, Sacral dimple, Calvarial ost... OMIM:616331
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Radial deviation of the hand, Cleft soft palate, Long philtrum, Metatarsa... ORPHA:2756
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Wolf-Hirschhorn Syndrome
Retinopathy, Optic atrophy, Abnormal lip morphology, Iris coloboma, Short hallux, Delayed skeleta... ORPHA:280
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
High, narrow palate, Hypermobility of interphalangeal joints, Broad hallux, Cataract, Broad thumb... ORPHA:3433
Nephronophthisis 15
Nephronophthisis, Polydactyly, Retinal degeneration OMIM:614845
Microphthalmia, Isolated, With Coloboma 9
Long philtrum, Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Retinal detachment... OMIM:615145
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Hand polydactyly, Nephropathy, Iris coloboma, Scoliosis, Cleft palate, Ren... ORPHA:220497
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Kapur-Toriello Syndrome
Retinal coloboma, Hypoplasia of penis, Intestinal malrotation, Iris coloboma, Short neck, Orofaci... ORPHA:2328
Lowry-Wood Syndrome
Coxa vara, Patellar dislocation, Irregular epiphyses, Joint stiffness, Elbow dislocation, Disloca... ORPHA:1824
Frontofacionasal Dysplasia
Brushfield spots, Non-midline cleft lip, Limbal dermoid, Microcornea, Iris coloboma, Cataract, Cl... ORPHA:1791
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand, Chorioretinal atrophy, Micropenis, Pigmentary retinopathy OMIM:245800
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Scoliosis, Arachnodactyly, Retin... ORPHA:171844
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Polydactyly, Rod-cone dystrophy, Stage 5 chronic kidney disease, Re... OMIM:616629
Renal insufficiency, Abnormality of retinal pigmentation ORPHA:655
Koolen-De Vries Syndrome
Microdontia, Hip dislocation, Everted lower lip vermilion, Cleft palate, Abnormal dental enamel m... ORPHA:96169
Iris coloboma, Cataract ORPHA:79326
Stickler Syndrome Type 1
Long philtrum, Cataract, Joint hyperflexibility, Platyspondyly, Retinal detachment, Cleft palate,... ORPHA:90653
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Patellar dislocation, Kyphosis, Hypodontia, Clinodactyly of the 5th finger, Mac... ORPHA:2916
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... OMIM:251270
Triple A Syndrome
Optic atrophy, Generalized hyperpigmentation, Iris coloboma, Abnormality of the hypothenar eminen... ORPHA:869
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Baraitser-Winter Cerebrofrontofacial Syndrome
Delayed cranial suture closure, Long philtrum, Wide mouth, Hydroureter, Microcornea, Retinoschisi... ORPHA:2995
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Bulging of the costochondral junction, Sparse bone trabeculae, Hypophosphatemic... OMIM:241530
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, Sandal gap, Abnormality of retinal pigmentation, High, narrow palate ORPHA:2515
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... OMIM:307800
Carnosinuria, Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... OMIM:221900
Otospondylomegaepiphyseal Dysplasia
Short phalanx of finger, Bifid uvula, Short neck, Fibular bowing, Enlarged joints, Cleft palate, ... ORPHA:1427
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Microphthalmia, Isolated 4
Coloboma, Postaxial polydactyly OMIM:613094
Dent Disease 1
Aminoaciduria, Thin bony cortex, Hyperphosphaturia, Sparse bone trabeculae, Low-molecular-weight ... OMIM:300009
Lateral Meningocele Syndrome
Hyperlordosis, High palate, Kyphosis, Craniofacial hyperostosis, Dental crowding, Wormian bones, ... ORPHA:2789
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Bifid thoracic vertebrae, Ectopic kidney, Tracheoesophageal fistula, Iris colob... ORPHA:268249
Donnai-Barrow Syndrome
Short sternum, Non-acidotic proximal tubulopathy, Hypoplasia of the iris, Retinal dystrophy, Inte... OMIM:222448
1Q21.1 Microduplication Syndrome
Hip dysplasia, Hip dislocation, Cataract, Hypospadias, Arthrogryposis multiplex congenita, Talipe... ORPHA:250994
Oliver-Mcfarlane Syndrome
Retinal degeneration, Hypoplasia of penis, Pigmentary retinopathy, Central heterochromia OMIM:275400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short lingual frenulum, Microdontia, Cleft palate, Short ribs, Polycystic kidney dys... OMIM:614091
Ankle clonus, Abnormality of retinal pigmentation OMIM:145290
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Bifid tongue, Dislocated radial head, Radial deviation of finger,... OMIM:268310
Joubert Syndrome 18
Lobulated tongue, Talipes equinovarus, Camptodactyly, Joint laxity, Renal cyst, Kyphoscoliosis, H... OMIM:614815
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Limb pain... ORPHA:93284
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Hallermann-Streiff Syndrome
Selective tooth agenesis, Everted lower lip vermilion, Iris coloboma, Thin vermilion border, Opti... OMIM:234100
Rhizomelic Chondrodysplasia Punctata, Type 2
Flexion contracture, Irregular vertebral endplates, Zonular cataract, High palate, Epiphyseal sti... OMIM:222765
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl... OMIM:178110
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Vertebral fusion, Narrow palate, Optic atrophy, Exaggerated median tongue fur... ORPHA:313892
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Recurrent fractures, Optic atrophy, Optic disc pallor, Glycosuria, Stage 5 ch... OMIM:268315
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Cleft palate, Abnormal vitreous humor... ORPHA:90654
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Bifid uvula, Submucous cleft hard palate, Abnormality of retinal pigment... ORPHA:2521
Leber Congenital Amaurosis 1
Hyperthreoninuria, Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atro... OMIM:204000
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Microform Holoprosencephaly
Hypoplasia of penis, Short philtrum, Solitary median maxillary central incisor, Iris coloboma, Te... ORPHA:280200
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Cleft palate, Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Juvenile Paget Disease
Melanocytic nevus, Recurrent fractures, Optic atrophy, Coarse metaphyseal trabecularization, Abno... ORPHA:2801
Meckel Syndrome, Type 10
Sacral dimple, Ulnar deviation of the hand, Bifid uvula, Camptodactyly, Postaxial foot polydactyl... OMIM:614175
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Hand monodactyly, Split foot, Cataract, Split hand OMIM:183800
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Scoliosis, Hammertoe OMIM:619090
Focal Dermal Hypoplasia
Short phalanx of finger, Short 4th metacarpal, Bifid ureter, Optic atrophy, Delayed eruption of t... OMIM:305600
Elsahy-Waters Syndrome
Abnormality of the anus, Delayed eruption of teeth, Bifid uvula, Increased cup-to-disc ratio, Age... OMIM:211380
Joubert Syndrome 22
2-3 toe syndactyly, Coloboma, Postaxial foot polydactyly, Retinal dysplasia, Renal hypoplasia, Po... OMIM:615665
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... ORPHA:2064
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Abnormality of retinal pigmentation, Nephropathy, Nephrolithiasis, Chorioretinal colob... ORPHA:2196
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... OMIM:180104
Coffin-Lowry Syndrome
Tapered finger, Optic atrophy, Delayed eruption of teeth, Everted lower lip vermilion, Delayed sk... ORPHA:192
Frontonasal Dysplasia 1
Coloboma, Joint contracture of the hand, Pectoral muscle hypoplasia/aplasia, Clinodactyly, Campto... OMIM:136760
Dental malocclusion, Avascular necrosis, Narrow palate, Kyphosis, Widely spaced teeth, Hypoplasti... ORPHA:61
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Horizontal ribs, Absent or minimally ossified vertebral bodies, Retinop... ORPHA:1505
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Small hand, Hypoplasia of the odontoid process, Cone-shaped epiphyses of the phalanges of the han... ORPHA:85172
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Hypoplasia of penis, Anal atresia, Hypospadias, Cataract, Abnormal palate morphology... ORPHA:1381
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Jacobsen Syndrome
Abnormality of the anus, Ectopic anus, Toe syndactyly, Hip dislocation, Iris coloboma, Short neck... ORPHA:2308
Hypophosphatasia, Adult
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Arthropathy, Premature ... OMIM:146300
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Bifid tongue, Optic atrophy, Hip dislocation, Iris coloboma, Short neck, Toot... ORPHA:818
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Posterior Column Ataxia With Retinitis Pigmentosa
Urinary incontinence, Rod-cone dystrophy, Joint contracture of the hand, Optic atrophy, Camptodac... OMIM:609033
Joubert Syndrome
Foot polydactyly, Aganglionic megacolon, Hand polydactyly, Iris coloboma, Scoliosis, Abnormal for... ORPHA:475
White-Sutton Syndrome
Rod-cone dystrophy, High palate, Bifid uvula, Short philtrum, Joint laxity, Optic nerve hypoplasi... OMIM:616364
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... OMIM:122600
Biemond Syndrome Type 2
Hypospadias, Preaxial polydactyly, Coloboma ORPHA:141333
Sturge-Weber Syndrome
Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Hyperosto... ORPHA:3205
Cerebrooculonasal Syndrome
Narrow palate, High palate, Long philtrum, Optic nerve hypoplasia, Solitary median maxillary cent... OMIM:605627
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Stage 5 chronic kidney disease, Retinal pigment epithelial mottling, Corneal crystal... OMIM:219900
Severe Oculo-Renal-Cerebellar Syndrome
Wide mouth, Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Catar... ORPHA:2715
Mesomelia-Synostoses Syndrome
Abnormality of the wrist, Metatarsal synostosis, Abnormal oral frenulum morphology, Abnormality o... ORPHA:2496
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Iris coloboma, Short neck, Scoliosis, Cleft palate, Optic disc coloboma ORPHA:52055
Vici Syndrome
Hypopigmentation of the skin, High palate, Renal tubular acidosis, Optic atrophy, Death in infanc... ORPHA:1493
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Brachydactyly, Renal hypoplasia, Pigmentary retinopathy, Postaxial polydactyly OMIM:600151
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Wolf-Hirschhorn Syndrome
Hip dislocation, Metatarsus adductus, Iris coloboma, Short hallux, Abnormal sternal ossification,... OMIM:194190
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea OMIM:251505
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Joubert Syndrome 15
Polydactyly, Retinopathy, Retinal dystrophy, Nephronophthisis, Micropenis OMIM:614464
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Bifid tongue, Cleft palate, Talipes equinovarus, Short ribs, Enlarged kidney, Ab... OMIM:613091
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Retinal dysplasia, Orofacia... ORPHA:324416
Dent Disease
Aminoaciduria, Non-acidotic proximal tubulopathy, Thin bony cortex, Hyperphosphaturia, Sparse bon... ORPHA:1652
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Short toe, Joint dislocation, Tapered finger, Short 4th metacarpal, Hypo... ORPHA:3201
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Multiple joint contractures, Neuropathic spinal arthropathy, Hip dislocat... ORPHA:370968
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology, Spina bifida occulta, Cataract,... ORPHA:64754
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Caudal Regression Syndrome
Vesicoureteral reflux, Missing ribs, Anal atresia, Joint stiffness, Abnormal pelvic girdle bone m... ORPHA:3027
X-Linked Hypophosphatemia
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... ORPHA:89936
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Delayed ep... OMIM:600081
Koolen-De Vries Syndrome
Fair hair, Iris hypopigmentation, Hip dislocation, Everted lower lip vermilion, Slender finger, P... OMIM:610443
Cenani-Lenz Syndrome
Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, Abnormal form of the... ORPHA:3258
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperlordosis, Kyphosis, Abnormality of retinal pigmentation, Cataract, Delayed skelet... ORPHA:3085
8P11.2 Deletion Syndrome
Sacral dimple, High palate, Supernumerary ribs, Retinal dystrophy, Hypoplasia of penis, Microcorn... ORPHA:251066
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Bulging of the costochondral junction, Delayed eruption of teeth, Sparse bone t... OMIM:264700
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Foot polydactyly, Abnormality of the humerus, Hypoplasia of the ... ORPHA:3186
Nail-Patella Syndrome
Biceps aplasia, Patellar dislocation, Triceps aplasia, Absent distal interphalangeal creases, Glo... OMIM:161200
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... OMIM:608553
Orofaciodigital Syndrome V
Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglionic megacolon, Bifid uvula, Anky... OMIM:174300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Retinal pig... OMIM:617102
Thakker-Donnai Syndrome
Anal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Short neck, Narrow mouth, H... ORPHA:1780
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Coloboma OMIM:613703
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Osteomalacia, Rickets, Hypophosphatemic rickets, Abnormality of the dent... OMIM:193100
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Aminoaciduria, Optic nerve dysplasia, Joint contracture of the hand, Polycystic... OMIM:214110
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Short ribs, Radial bowing, Polycystic kidney dysplasia, Missing ribs, Ulnar b... OMIM:617866
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Abnormal pupil morphology, Median cleft lip, Microcornea, Iris coloboma, Cleft palate ORPHA:3374
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate OMIM:300484
Dubowitz Syndrome
Sacral dimple, Megalocornea, High palate, Rod-cone dystrophy, Delayed eruption of teeth, Hypoplas... OMIM:223370
Kniest Dysplasia
Dumbbell-shaped long bone, Hip dislocation, Short neck, Enlarged joints, Cleft palate, Flattened,... OMIM:156550
Retinitis Pigmentosa
Optic atrophy, Hypoplasia of penis, Abnormality of retinal pigmentation, Cataract, Keratoconus, A... ORPHA:791
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Flexion contracture, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-... OMIM:300166
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Rod-cone dystrophy, Short long bone, Brachydactyly, Nephrocalcinosis, Postaxial ... OMIM:615633
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Facial Clefting, Oblique, 1
Cleft palate, Deep palmar crease, Cleft upper lip, Coloboma OMIM:600251
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Cat Eye Syndrome
Vesicoureteral reflux, Rectal atresia, Volvulus, Anal atresia, Intestinal malrotation, Iris colob... OMIM:115470
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Cataract, Short neck, Downturned corners of mouth, Proximal placement of thumb, D... ORPHA:93267
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
2-3 toe syndactyly, Short toe, Vesicoureteral reflux, Tapered finger, Hallux valgus, Coloboma, Lo... OMIM:618659
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Nephropathy, Iris coloboma, Scoliosis, Chorioretinal coloboma, Post... ORPHA:1454
Amish Lethal Microcephaly
Cleft soft palate, Optic atrophy, Death in infancy, Limitation of joint mobility, Organic aciduri... ORPHA:99742
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Anal atresia, Anteriorly placed anus, Single transverse palmar crease, Ir... OMIM:309801
15Q24 Microdeletion Syndrome
Small hand, Kyphosis, Microphallus, Coloboma, Thick lower lip vermilion, Long philtrum, Clinodact... ORPHA:94065
Ring Chromosome 21 Syndrome
Small hand, Thoracic hemivertebrae, Clinodactyly, Syndactyly, Narrow palm, Multiple cafe-au-lait ... ORPHA:1445
Desmoid Tumor
Malabsorption, Limitation of joint mobility, Intestinal polyposis, Abnormality of retinal pigment... ORPHA:873
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Microdontia, Bifid uvula, Camptodactyly, Hip dislocation, Short neck, Smooth phil... OMIM:613458
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Cree Mental Retardation Syndrome
Coloboma, Cleft soft palate, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs, Hypospa... OMIM:606851
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... ORPHA:411527
Jacobsen Syndrome
Flexion contracture, Optic atrophy, Macular hypoplasia, Pyloric stenosis, Missing ribs, Clinodact... OMIM:147791
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Hypoplasia of penis, Submucous cleft hard palate, Failure of eruption of permanent t... ORPHA:2250
Meckel Syndrome, Type 8
Polydactyly, Cleft upper lip, Enlarged kidney, Polycystic kidney dysplasia, Short neck, Cleft pal... OMIM:613885
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Lip pit, Tapered finger, Hypodontia, Iris coloboma, Broad thumb, Abnorma... ORPHA:1236
Adnp Syndrome
Polydactyly, 2-3 toe syndactyly, Urinary incontinence, Abnormal finger morphology, Thick lower li... ORPHA:404448
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, Coxa valga, Short neck, Delayed skeletal maturation, Flexion contractu... OMIM:255800
Micro Syndrome
High palate, Kyphosis, Retinal coloboma, Optic atrophy, Hypoplasia of penis, Short philtrum, Abno... ORPHA:2510
Orofaciodigital Syndrome Xix
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Toe syndactyly, ... OMIM:620107
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed cranial suture closure, Hyperlordosis, Large iliac wing, Delayed eruption of teeth, Incre... ORPHA:2780
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Proximal tubulopathy, Rickets, Polyuria, Mottled pigmentation of photoexp... OMIM:560000
Treacher-Collins Syndrome
Cleft upper lip, High palate, Wide mouth, Abnormality of the dentition, Abnormality of dental mor... ORPHA:861
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Joint laxity, Microcornea, Optic nerve hypoplasia, Cataract, Cleft p... OMIM:610125
Schimmelpenning-Feuerstein-Mims Syndrome
Hypopigmentation of the skin, Recurrent fractures, Abnormal finger morphology, Coloboma, Hyperpho... OMIM:163200
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Asymmetric radi... OMIM:171480
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Hyperphosphaturia, Medullary nephrocalcinosis, Bone pain, Bowing of the legs, Rachi... ORPHA:157215
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Renal cyst, Syndactyly, Hypospadias, Pigmentary retinopathy, Postaxial polyda... OMIM:605231
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Thin bony cortex, Increased susceptibility to fractures, Delayed epiphyseal ossificat... ORPHA:289157
Cerebrocostomandibular Syndrome
Cleft soft palate, Elbow flexion contracture, Posterior rib gap, Cleft palate, Glossoptosis, Rib ... OMIM:117650
Codas Syndrome
Short metacarpal, Delayed eruption of teeth, Hydroureter, Abnormality of dental morphology, Abnor... ORPHA:1458
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Macular atrophy, Bone spicule pigmentation of the retina, C... OMIM:617781
Myhre Syndrome
Large iliac wing, Abnormal lip morphology, Bifid uvula, Abnormal rib morphology, Abnormal metaphy... ORPHA:2588
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Long philtrum, Gingival overgrowth, Clinodactyly, Camptodactyly, Broad hallux,... OMIM:618529
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Broad thumb, Mucopolysacchariduria,... ORPHA:585
Harrod Syndrome
Dental malocclusion, Multicystic kidney dysplasia, High palate, Kyphosis, Abnormal pelvic girdle ... ORPHA:2115
Baralle-Macken Syndrome
Urinary incontinence, Tapered finger, Cafe-au-lait spot, Kyphosis, Cataract, High, narrow palate OMIM:619255
Orofaciodigital Syndrome Iv
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... OMIM:258860
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Thoracolumbar scoliosis, High palate, Bifid uvula, Iris coloboma, Short neck, Optic disc coloboma OMIM:300472
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Delayed epiphyseal ossification, B... OMIM:277440
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Delayed closure of the anterior fontanelle, High palate, Clinodactyly of the 5th fin... ORPHA:231140
Cardiospondylocarpofacial Syndrome
Vesicoureteral reflux, Fusion of middle ear ossicles, Pseudoepiphyses, Long philtrum, Wide mouth,... OMIM:157800
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Townes-Brocks Syndrome
Toe syndactyly, Iris coloboma, Absent toe, Abnormal rib morphology, Vesicoureteral reflux, Hypopl... ORPHA:857
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, High palate, Long philtrum, Elevated urinary 3-hydroxybuty... OMIM:614105
Bardet-Biedl Syndrome 19
Rod-cone dystrophy, Renal hypoplasia, Renal insufficiency, Postaxial polydactyly, Hydronephrosis OMIM:615996
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Joubert Syndrome 20
Renal cyst, Retinopathy, Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Larsen Syndrome
Spatulate thumbs, Hip dislocation, Elbow dislocation, Spina bifida occulta, Bipartite calcaneus, ... OMIM:150250
Microphthalmia, Syndromic 3
Vertebral fusion, Vertebral hypoplasia, Coloboma, Esophageal atresia, Supernumerary ribs, Missing... OMIM:206900
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
9Q21.13 Microdeletion Syndrome
Polydactyly, Hip dysplasia, Vertebral segmentation defect, Downturned corners of mouth, Abnormal ... ORPHA:531151
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Joubert Syndrome 10
Rod-cone dystrophy, Deep philtrum, Postaxial polydactyly, Thick vermilion border OMIM:300804
Peters-Plus Syndrome
Short lingual frenulum, Iris coloboma, Peters anomaly, Short neck, Thin vermilion border, Conical... OMIM:261540
Retinopathy, Optic atrophy, Median cleft lip, Iris coloboma, Short neck, Tooth agenesis, Cyclopia... ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Hyperlordosis, Flexion contracture, Hip dislocation, Macroglossia, Scolio... OMIM:613156
Neuroocular Syndrome
Tapered finger, Torus palatinus, Lens coloboma, Iris coloboma, Peters anomaly, Blue irides, Scapu... OMIM:619539
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hyperlordosis, High palate, Ulnar deviation of finger, Short philtrum, Abnormal distal phalanx mo... ORPHA:1387
Craniosynostosis 2
Triphalangeal thumb, Cleft soft palate, Supernumerary tooth, Brachydactyly, Unicoronal synostosis... OMIM:604757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Macrog... OMIM:606612
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Aicardi Syndrome
Optic atrophy, Butterfly vertebrae, Cleft palate, Optic disc coloboma, Block vertebrae, Hip dyspl... ORPHA:50
Chromosome 13Q14 Deletion Syndrome
Retinoblastoma, High palate, Deep philtrum, Hip dislocation, Clinodactyly of the 5th finger, Over... OMIM:613884
Kbg Syndrome
Vertebral fusion, Vertebral arch anomaly, Long philtrum, Thoracic kyphosis, Oligodontia, Clinodac... OMIM:148050
Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Cataract, Short neck, Brachydacty... OMIM:612463
Autosomal Dominant Keratitis
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... ORPHA:2334
Lowry-Wood Syndrome
Multiple joint dislocation, Thick vermilion border, Elbow flexion contracture, Hip dislocation, I... OMIM:226960
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
20P13 Microdeletion Syndrome
Polydactyly, Retinopathy, Finger syndactyly, Clinodactyly, Microcornea, Thin upper lip vermilion,... ORPHA:313781
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Arnold-Chiari Malformation Type I
Urinary incontinence, Stiff neck, Areflexia of upper limbs, Fused cervical vertebrae, Anteriorly ... ORPHA:268882
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, High palate, Short metacarpal, Camptodactyly, Absent palmar crease, Short... OMIM:614230
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma, Microcornea OMIM:602499
Tarp Syndrome
Short sternum, High palate, Glossoptosis, Tongue nodules, Hypoplasia of the radius, Optic atrophy... OMIM:311900
Meckel Syndrome, Type 1
Camptodactyly of finger, Iris coloboma, Radial deviation of finger, Abnormality of the ureter, Sh... OMIM:249000
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Increased bone mineral density, Bifid uvula, Delayed skeletal mat... ORPHA:2658
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Ectopic anus, Block vertebrae, Neurogenic bladder, Vertebral segmentation defec... OMIM:613686
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Vesicoureteral reflux, Cervical C2/C3 vertebral fusion, High palate, Small hand,... ORPHA:444077
Spondylo-Ocular Syndrome
Long philtrum, Thoracic kyphosis, Iris hypopigmentation, Cataract, Short neck, Abnormal intervert... ORPHA:85194
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... ORPHA:49382
Retinitis Pigmentosa 2
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... OMIM:312600
Microphthalmia, Syndromic 1
Camptodactyly, Iris coloboma, Radial deviation of finger, Optic disc coloboma, Orofacial cleft, L... OMIM:309800
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Broad thumb, Peters anomaly, Smooth philtrum, Brachydactyly OMIM:614526
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Bardet-Biedl Syndrome 22
Polydactyly, Rod-cone dystrophy, Macular hypopigmentation, Postaxial foot polydactyly OMIM:617119
Coffin-Siris Syndrome 11
High palate, Cleft soft palate, Small hand, Esophageal atresia, Wide mouth, Bifid uvula, Downturn... OMIM:618779
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Suleiman-El-Hattab Syndrome
Polydactyly, High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Clinodactyly, Thi... OMIM:618950
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... OMIM:601813
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
White-Sutton Syndrome
Rod-cone dystrophy, High palate, Optic atrophy, Short philtrum, Joint laxity, Astigmatism, Iris c... ORPHA:468678
Marshall Syndrome
Thick upper lip vermilion, Coxa valga, Irregular distal femoral epiphysis, Bifid uvula, Vitreoret... OMIM:154780
Mietens Syndrome
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hypoplasia of the rad... ORPHA:2557
Cohen Syndrome
Genu valgum, Tapered finger, Thoracic scoliosis, Short metacarpal, Macrodontia of permanent maxil... OMIM:216550
Chromosome 6Pter-P24 Deletion Syndrome
Cleft upper lip, High palate, Posterior embryotoxon, Ocular anterior segment dysgenesis, Hip dysp... OMIM:612582
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Optic disc pallor, Cystic renal dysplasia, Ectopic kidney, Cataract, Neonatal d... OMIM:613730
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Cataract, Downturned corners of mouth, Delayed skeletal maturation, Brachydact... ORPHA:2643
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap OMIM:216300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Exercise-induced myoglobinuria, Achilles tendon contra... OMIM:607155
Bardet-Biedl Syndrome 1
Attenuation of retinal blood vessels, Radial deviation of finger, Postaxial hand polydactyly, Rod... OMIM:209900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Polydactyly, Tapered finger, Hallux valgus, Cleft soft palate, Iris coloboma, Osteochondrosis, Sa... ORPHA:268261
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Limitation of joint mobility, Spina bifida occulta, Cataract, Scoliosis, Ab... ORPHA:177
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Rickets of the lower limbs, Abnormal trabecular bone morphology, ... ORPHA:289176
Joubert Syndrome 7
Genu valgum, Stage 5 chronic kidney disease, Retinal dystrophy, Renal cyst, Scoliosis, Postaxial ... OMIM:611560
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Broad long bone diaphyses, Stage 5 chronic kidney disease, Short iliac bones, Attenuation of reti... OMIM:614376
Acrocallosal Syndrome
Tapered finger, Coloboma, Everted upper lip vermilion, Optic atrophy, Toe syndactyly, Bifid uvula... OMIM:200990
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Coloboma, Delayed eruption of teeth, Pulp calcification, Taurod... OMIM:166750
Martsolf Syndrome 2
Camptodactyly of finger, Camptodactyly, Developmental cataract, Overlapping toe, Cataract OMIM:619420
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Intellectual Developmental Disorder, Autosomal Dominant 36
Hip dysplasia, Unilateral renal agenesis, Deviation of the 5th finger, Joint hypermobility, Broad... OMIM:616362
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...