banner
Genes Phenotypes Help, News, Blog

Gene: Hs2st1 MGI:1346049

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
heparan sulfate 2-O-sulfotransferase 1
Synonyms:
Hs2st

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
phenotypes		 Matching phenotypes Source
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, Thin lo... OMIM:619194

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... OMIM:613702
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cleft palate, Ulnar deviation of fin... ORPHA:921
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Cleft palate, Hematuria, Chorioretinal coloboma, Iris coloboma OMIM:120433
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ... ORPHA:485
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Hypomelanosis Of Ito
Syndactyly, Cataract, Macular hypopigmented whorls, streaks, and patches, Kyphosis, Thick lower l... OMIM:300337
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Thick vermilion border, Thoracic kyphosis,... OMIM:612713
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Hem... ORPHA:1473
Oculofaciocardiodental Syndrome
Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb... ORPHA:2712
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris colo... OMIM:610023
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... ORPHA:370010
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormality of the vert... ORPHA:294975
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Genu varum, Joint hyperflexibility, Chorioretinal coloboma,... ORPHA:1777
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Iris coloboma, Hydronephrosis, An... ORPHA:195
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, Increased density of ... OMIM:305620
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Cleft upper lip, Short neck, Vesicoureteral ... OMIM:244600
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili... ORPHA:3265
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract, Chorioretinal coloboma OMIM:274205
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... ORPHA:2377
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Cataract, Genu recurvatum, Reduced bone mineral density, Abnorm... ORPHA:2611
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... ORPHA:88630
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma OMIM:210350
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure... OMIM:607323
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Distal Duplication 18Q
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Short n... ORPHA:1716
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Talipes equino... OMIM:617662
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly, Hemivertebrae, Renal h... ORPHA:85284
Renpenning Syndrome
Cataract, Hypospadias, Macrodontia, Joint stiffness, Abnormal thumb morphology, High, narrow pala... ORPHA:3242
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Microphthalmia, Syndromic 13
Kyphoscoliosis, Microcornea, Chorioretinal coloboma, Iris coloboma, Widely-spaced incisors OMIM:300915
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... OMIM:214300
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Abnormal form of the vertebral bod... ORPHA:2839
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Cataract, High palate, Death in infancy OMIM:614882
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Cleft upper lip, Cleft palate, Micropenis, Tooth agenesis, Ectrodactyly, Clinodactyly... OMIM:147950
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chronic kidney disease, Stage 5... ORPHA:3156
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Macular dystrophy, Micropenis, Rod-cone dystrophy, Brachydactyly OMIM:615983
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb,... ORPHA:959
Trisomy 13
High, narrow palate, Iris coloboma, Bilateral single transverse palmar creases, Abnormal rib morp... ORPHA:3378
Bardet-Biedl Syndrome 10
Renal insufficiency, Retinal dystrophy, Renal cyst, Polydactyly, Rod-cone dystrophy OMIM:615987
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystro... OMIM:615995
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal dental morphology, Hypospadias, Short neck, Hyperlordosis, Kyphosis, Abnormality of the ... ORPHA:2522
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy... ORPHA:1553
Gorlin Syndrome
Vertebral fusion, Cataract, Arachnodactyly, Palmar pits, Carious teeth, Hemivertebrae, Vertebral ... ORPHA:377
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Pelvis-Shoulder Dysplasia
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... OMIM:169550
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ... OMIM:615990
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Long fingers, Flexion contracture, Optic atrophy, Bifid uvula, High palate, Tali... OMIM:601110
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
2Q24 Microdeletion Syndrome
Toe syndactyly, Cataract, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal... ORPHA:1617
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, ... ORPHA:568
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Miscarriage, Ankle swelling, Wrist swelling, Retinal pigm... ORPHA:448237
Kapur-Toriello Syndrome
Cataract, Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Intestinal m... OMIM:244300
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma OMIM:615147
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema, Lens subluxation, Short neck ORPHA:3456
Bardet-Biedl Syndrome 14
Renal insufficiency, Rod-cone dystrophy, Polydactyly OMIM:615991
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Downturne... OMIM:265000
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Retinal dystrophy, Proximal placement of thumb, Sclerocornea, Postax... ORPHA:139471
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Cataract, Preaxial hand polydactyly, Deep philtrum, Non-midline cle... ORPHA:1297
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Abnormality of the dentition, Short neck, Short foot, Hip dysplasia, Ocular ... OMIM:601427
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Retinal detachment, Cataract, Broad hallux, Ovoid vertebral bodies, Abnor... ORPHA:1856
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Accesso... OMIM:617927
Diaphanospondylodysostosis
Short neck, Missing ribs, Cleft palate, Narrow pelvis bone, Multiple renal cysts, Absent or minim... ORPHA:66637
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... ORPHA:2791
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Microphthalmia, Isolated, With Coloboma 5
Orofacial cleft, Iris coloboma, Chorioretinal coloboma OMIM:611638
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma ORPHA:2921
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Flexion contracture, High palate, ... OMIM:616549
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Mulibrey Nanism
Dental crowding, Single transverse palmar crease, Corneal dystrophy, Enamel hypoplasia, Microglos... OMIM:253250
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cataract, Abnormally ossified vertebrae, Septo-optic dysplasia, Mis... ORPHA:3301
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypoplas... OMIM:108720
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Coloboma, Abnormal optic disc morpholog... ORPHA:508498
3C Syndrome
Hypoplasia of penis, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Chorioretin... ORPHA:7
Triploidy
Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Intestinal malrotation, Short neck... ORPHA:3376
Cofs Syndrome
Abnormality of retinal pigmentation, Death in infancy, Cataract, Prominent metopic ridge, Camptod... ORPHA:1466
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Renal cyst, Polydactyly, Rod-cone dystrophy, Retinal de... OMIM:615982
Contractures-Developmental Delay-Pierre Robin Syndrome
Arachnodactyly, Overlapping toe, Hypospadias, Thoracolumbar scoliosis, Metatarsus adductus, Short... ORPHA:436003
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Syndactyly, Renal insufficiency, Cataract, Bone spicule pig... OMIM:615986
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical... OMIM:118100
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Cataract, Sclerocornea, Craniosynostosis, Abnormality of the dentitio... ORPHA:251038
Verheij Syndrome
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Optic nerve hypoplasia, Short neck, Hip... OMIM:615583
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Coloboma, Vert... ORPHA:251014
Temtamy Syndrome
Dental crowding, Lens luxation, Ectopia lentis, Hip dislocation, Hypoplasia of teeth, Short 2nd t... OMIM:218340
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Stromme Syndrome
Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Intestinal malrotation, Bilatera... OMIM:243605
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Death in infancy, Sacral dimple, Unilateral renal agenesis, Ureteral atresia, S... OMIM:618845
Anophthalmia Plus Syndrome
Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of finger, Vertebr... ORPHA:1104
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Sh... ORPHA:233
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Aldh18A1-Related De Barsy Syndrome
Joint hyperflexibility, Cataract ORPHA:35664
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Down-sloping shoulders, Abnormal retinal vascular morphology... ORPHA:1390
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Renal hy... OMIM:609053
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... ORPHA:85167
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... OMIM:274000
Jeune Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial h... ORPHA:474
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Wormian bones, Tapered finger, Flat acetabular roof, Anteriorly placed anus,... OMIM:617159
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Abruzzo-Erickson Syndrome
Coloboma, Radioulnar synostosis, Hypospadias, Cleft palate OMIM:302905
Arthrogryposis, Distal, Type 1C
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... OMIM:619110
Cohen Syndrome
High, narrow palate, Abnormality of skin pigmentation, Short philtrum, Clinodactyly of the 5th fi... ORPHA:193
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... ORPHA:2919
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes equinovarus, Campt... OMIM:617333
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Chorioretinal dysplasia, Reti... ORPHA:899
Metatropic Dysplasia
Cataract, Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal ... ORPHA:2635
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad... OMIM:120400
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Cleft hard palate, Delayed epiphyseal ossificati... ORPHA:166016
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Squared iliac bones, H... OMIM:618000
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,... OMIM:272460
Cat-Eye Syndrome (Type I)
Iris coloboma, Anal atresia DECIPHER:42
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Oligosacchariduria, Downturned corners of mouth, High palate, Thoracic kyphosis, Abno... ORPHA:163649
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Cataract, Vesicoureteral reflux, Short foot, Hydronephrosis... ORPHA:250989
Lamb-Shaffer Syndrome
Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Thick vermilion border... ORPHA:530983
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Meta... ORPHA:536471
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Stickler Syndrome, Type Ii
Arthropathy, Retinal detachment, Cataract, Arachnodactyly, Long fingers, High, narrow palate, Pie... OMIM:604841
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac... ORPHA:93296
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Short neck, Orofacial cleft, Short palm, Clinod... ORPHA:915
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Basal Cell Nevus Syndrome 1
Palmar pits, Hemivertebrae, Iris coloboma, Vertebral fusion, Odontogenic keratocysts of the jaw, ... OMIM:109400
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Abnormality of the hand, Abnormality of the dentition, Super... ORPHA:1264
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Abnormality of skin pigmentation, Chorio... ORPHA:2092
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, Median cleft lip, High palate, Iris coloboma OMIM:155145
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Cleft upper lip, Short neck, Duplication of phalanx of hallux, Orofacia... OMIM:243310
Joubert Syndrome 16
Retinal dystrophy, Renal cyst, Coloboma, Polydactyly, Nephronophthisis OMIM:614465
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Papilledema, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteol... ORPHA:371428
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Aplasia/Hypoplasia of the distal ... ORPHA:1647
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly OMIM:615988
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Hype... OMIM:601492
Nizon-Isidor Syndrome
Thin upper lip vermilion, Hypospadias, Thoracolumbar kyphosis, Long fingers, High, narrow palate,... OMIM:618872
Eem Syndrome
Finger syndactyly, Abnormality of retinal pigmentation, Abnormal dental morphology, Selective too... ORPHA:1897
Crouzon Syndrome
Abnormal sacrum morphology, Optic atrophy, Hypopigmented skin patches, Narrow palate, Melanocytic... ORPHA:207
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Aganglionic megacolon, Hypospadias, Cleft palate, Iris coloboma ORPHA:66629
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Arachnodactyly, Decreased palmar creases, Limit... OMIM:108145
Stickler Syndrome, Type I
Arthropathy, Osteoarthritis, Bifid uvula, Arachnodactyly, Scoliosis, Beaking of vertebral bodies,... OMIM:108300
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... ORPHA:3214
Bardet-Biedl Syndrome 16
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Rod-cone dystrophy,... OMIM:615993
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Cleft lip, Kyphosis, Spinal canal stenosis, Horseshoe k... ORPHA:1724
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Downturned corners of mouth, Astigmatism, High palate, Sh... OMIM:617796
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Cataract, Death in infancy OMIM:614876
Distal Deletion 13Q
Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Optic atrophy, Abnormal form of the ver... ORPHA:1590
Kbg Syndrome
Vertebral fusion, Thin upper lip vermilion, Persistent open anterior fontanelle, Macrodontia, Sin... ORPHA:2332
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Short mandibular rami, Sclerocornea, Morni... OMIM:612109
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Retinal detachment, Cataract, Cleft palate, Genu valgum, Joint hyperflexibi... ORPHA:250984
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Non-midline cleft lip, Retinopathy ORPHA:1995
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Abnormal hand morphology, Small hand, Cleft palate, Short foot OMIM:300261
Apert Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi... ORPHA:87
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... OMIM:602499
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta,... OMIM:619227
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... ORPHA:2756
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly, Rod-cone dyst... OMIM:615984
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
Orofaciodigital Syndrome Xvii
Prominent metopic ridge, Median cleft lip, Short neck, Short middle phalanx of the 2nd finger, Hi... OMIM:617926
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Renal cyst, High palate, Premature loss of teeth, Iris coloboma, Dislocat... OMIM:102500
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Dental c... OMIM:615761
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Unilateral renal agenesis, Accelerated skeletal matur... OMIM:617190
Trisomy 18
Microcornea, Iris coloboma, Bilateral single transverse palmar creases, Esophageal atresia, Delay... ORPHA:3380
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Cleft palate, An... ORPHA:506353
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Ne... OMIM:300554
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone os... ORPHA:93315
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Sclerocornea, Esophageal atresia, Hemivertebr... ORPHA:77298
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Short neck, Knee flexion contracture... OMIM:114300
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and ... ORPHA:90652
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb und... ORPHA:2310
Joubert Syndrome With Oculorenal Defect
Renal insufficiency, Retinal dystrophy, Aganglionic megacolon, Hand polydactyly, Foot polydactyly... ORPHA:2318
Joubert Syndrome With Ocular Defect
Retinal dystrophy, Aganglionic megacolon, Orofacial cleft, Cleft palate, Hand polydactyly, Retina... ORPHA:220493
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Enamel hypopl... OMIM:618874
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Ramon Syndrome
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... ORPHA:3019
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morp... OMIM:268850
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p... ORPHA:65759
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Curry-Jones Syndrome
Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Duplication of... OMIM:601707
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Oligodontia, Micropenis, Calvarial osteosclerosis, Cleft soft palate, Gingival o... OMIM:616331
Joubert Syndrome 15
Retinal dystrophy, Preaxial polydactyly, Coloboma, Nephronophthisis, Micropenis, Retinopathy OMIM:614464
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormalit... ORPHA:93160
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla... OMIM:612852
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... OMIM:617137
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Optic atrophy, Hip dysplasia, Astigmatism, Chorioretinal coloboma, Peters anomaly, V... ORPHA:494344
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Short fem... OMIM:618392
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo... OMIM:136300
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Proteinuria, Intestinal malrotation, Iris coloboma ORPHA:2143
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio... OMIM:615994
Pai Syndrome
Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Iris coloboma, Bifid uvula ORPHA:1993
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Bone pain, Downturned corners of mouth, Periodontitis, Decreased skull os... ORPHA:955
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Congenital Disorder Of Glycosylation, Type Ii
Joint laxity, Cataract, High palate, Iris coloboma OMIM:607906
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... ORPHA:93316
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly... OMIM:614091
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Cataract, Short thumb, Delayed skeletal maturation, Chorioretinal coloboma ORPHA:2489
Chops Syndrome
Cataract, Tracheomalacia, High, narrow palate, Optic atrophy, Horseshoe kidney, Downturned corner... OMIM:616368
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... ORPHA:816
Joubert Syndrome 18
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Re... OMIM:614815
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Broad hallux, Kyphoscoliosis, High, narrow palate, Hypermobility of interphalangeal joi... ORPHA:3433
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Ocular anterior s... OMIM:615145
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Widely-spaced maxillary central incisors, Partial duplication of the pr... ORPHA:363417
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Nar... OMIM:132450
Nephronophthisis 15
Retinal degeneration, Polydactyly, Nephronophthisis OMIM:614845
Frontorhiny
Cataract, Lumbar hyperlordosis, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Scoli... ORPHA:391474
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Sclerocornea, Abnormal form of the vertebral bodies, Downturned corners ... ORPHA:280
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Exaggerated median tongue furrow, Lumbar hyperlordosis, Dental crowding, Thorac... ORPHA:313892
Laurence-Moon Syndrome
Abnormality of the hand, Chorioretinal atrophy, Pigmentary retinopathy, Polydactyly, Micropenis OMIM:245800
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Hydroureter, Duplication of thumb phalanx, Joint stiffness, Short neck, ... ORPHA:2995
Joubert Syndrome With Renal Defect
Renal insufficiency, Aganglionic megacolon, Orofacial cleft, Cleft palate, Hand polydactyly, Scol... ORPHA:220497
Lowry-Wood Syndrome
Epiphyseal dysplasia, Abnormality of retinal pigmentation, Joint stiffness, Elbow dislocation, De... ORPHA:1824
Kapur-Toriello Syndrome
Hypoplasia of penis, Intestinal malrotation, Short neck, Orofacial cleft, Retinal coloboma, Iris ... ORPHA:2328
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... ORPHA:171844
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
Senior-Loken Syndrome 9
Osteopenia, Hypoplasia of the femoral head, Retinal dystrophy, Stage 5 chronic kidney disease, Tu... OMIM:616629
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Non-midline cleft lip, Cleft palate, Microcornea, Limbal dermoid, Iri... ORPHA:1791
Stickler Syndrome Type 1
Retinal detachment, Cataract, Osteoarthritis, Abnormal vitreous humor morphology, Cleft palate, J... ORPHA:90653
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short neck, Hemivertebrae, Nephrocalcinosis, Short p... OMIM:268310
Koolen-De Vries Syndrome
Ureteral duplication, High, narrow palate, Vertebral segmentation defect, Vesicoureteral reflux, ... ORPHA:96169
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Sandal gap, High, narrow palate ORPHA:2515
Triple A Syndrome
Generalized hyperpigmentation, Optic atrophy, Palmoplantar keratoderma, Abnormality of the hypoth... ORPHA:869
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis, Po... ORPHA:2916
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Cataract, Rhizomelia, Optic nerve hypoplasia, Flexion contracture, Sub... OMIM:222765
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral ... OMIM:241530
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... OMIM:307800
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria OMIM:236130
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic vertebrae, Foot polyda... ORPHA:268249
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Microcor... OMIM:221900
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
1Q21.1 Microduplication Syndrome
Cataract, Hypospadias, Hip dislocation, Hip dysplasia, Talipes equinovarus, Arthrogryposis multip... ORPHA:250994
Microphthalmia, Isolated 4
Coloboma, Postaxial polydactyly OMIM:613094
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Ne... OMIM:300009
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Short neck, Hyperlordosis, H... ORPHA:2789
Hallermann-Streiff Syndrome
Selective tooth agenesis, High, narrow palate, Metaphyseal widening, High palate, Chorioretinal c... OMIM:234100
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Proteinuria, Retinal dystrophy, Intestinal malrotation, Non-acidoti... OMIM:222448
Hyperreflexia
Ankle clonus, Abnormality of retinal pigmentation OMIM:145290
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Ricket... OMIM:268315
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Hypoplasia of penis, Retinal degeneration, Central heterochromia OMIM:275400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Elbow contracture, Crani... OMIM:178110
Mesomelia-Synostoses Syndrome
Micromelia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodacty... ORPHA:2496
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ... OMIM:312150
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Cleft palate, ... ORPHA:90654
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Hammertoe, Scoliosis OMIM:619090
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation, Camptodactyly of finger, Submucous cleft hard palate, Cleft ... ORPHA:2521
Orofaciodigital Syndrome Xi
Cleft palate, Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process OMIM:612913
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Sclerocornea, Short neck, Abnormal form of the ... ORPHA:818
Juvenile Paget Disease
Abnormality of retinal pigmentation, Bowing of the long bones, Recurrent fractures, Abnormality o... ORPHA:2801
Elsahy-Waters Syndrome
Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Megalocornea, Bifid uvula, Peno... OMIM:211380
Microform Holoprosencephaly
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Cleft palate, Short philtrum, S... ORPHA:280200
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Col... OMIM:615665
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Focal Dermal Hypoplasia
Ureteral duplication, Linear hyperpigmentation, Congenital hip dislocation, Osteopathia striata, ... OMIM:305600
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy OMIM:183800
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, High palate, Widely spaced teeth, Advanced eruption of tee... ORPHA:192
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Chorioretinal ... ORPHA:2196
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Frontonasal Dysplasia 1
Cataract, Median cleft lip, Postaxial hand polydactyly, Pectoral muscle hypoplasia/aplasia, Colob... OMIM:136760
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur... OMIM:204000
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
White-Sutton Syndrome
Joint laxity, Optic nerve hypoplasia, Short neck, Cleft palate, Hypoplastic cervical vertebrae, D... OMIM:616364
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Microcornea, Iris coloboma, Long hallux, Abnor... ORPHA:2308
Alpha-Mannosidosis
Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opacity, Short neck, Open ... ORPHA:61
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Genu valgum, Abnormal... ORPHA:1381
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ectopic kidney, Joint stiffness, Missing ribs, Abnorma... ORPHA:3027
Hypophosphatasia, Adult
Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss... OMIM:146300
Koolen-De Vries Syndrome
High palate, Widely spaced teeth, Vesicoureteral reflux, Prominent fingertip pads, Iris hypopigme... OMIM:610443
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Cataract, Hypoplasia of the odontoid process, Small hand, Cone-... ORPHA:85172
Hijazi-Reis Syndrome
Ankle clonus, Astigmatism, Iris coloboma OMIM:301094
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Urinary incontinence, Rod-cone dystrophy, Opti... OMIM:609033
Biemond Syndrome Type 2
Coloboma, Preaxial polydactyly, Hypospadias ORPHA:141333
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... OMIM:122600
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Short neck, Optic disc coloboma, Cleft palate, High palate, Scoliosis, Iris coloboma ORPHA:52055
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Brachydactyly OMIM:600151
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Retinal pigment epithelial mottling, Rickets, Stage 5 chronic kidney disease, Cornea... OMIM:219900
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ... ORPHA:3258
Joubert Syndrome
Aganglionic megacolon, Orofacial cleft, Abnormal form of the vertebral bodies, Hand polydactyly, ... ORPHA:475
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Postaxial hand polydactyly, Narr... OMIM:605627
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Retinal pigmen... OMIM:617102
Vici Syndrome
Abnormality of retinal pigmentation, Death in infancy, Cataract, Joint stiffness, Optic atrophy, ... ORPHA:1493
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Sandal gap, Proteinuria, Abno... ORPHA:2715
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma OMIM:251505
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... OMIM:613091
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Cataract, Preaxial polydactyly, Scoliosis, Spina bifida occult... ORPHA:64754
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, ... OMIM:615996
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... OMIM:617866
Dent Disease
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Nephrocalcino... ORPHA:1652
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:3201
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Developmental cataract, Coloboma, Retinal dysplasia, Ocular anterior segment dys... ORPHA:324416
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Multiple joint contractures, Abnormality of the tongue muscle, Hi... ORPHA:370968
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
8P11.2 Deletion Syndrome
Hypoplasia of penis, Sacral dimple, Retinal dystrophy, Microcornea, High palate, Talipes equinova... ORPHA:251066
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Orofacial cleft, Abnormal form of the vertebral bodies, Downturn... OMIM:194190
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:600081
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... OMIM:156550
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, En... OMIM:264700
Meckel Syndrome, Type 10
Sacral dimple, Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand po... OMIM:614175
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... OMIM:174300
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Nephrocalcinosis, Short long bone, Rod-cone dystrophy, Horizontal ribs, Br... OMIM:615633
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hyperlordosis, Kyphosis, Short toe, Delayed skelet... ORPHA:3085
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... ORPHA:3186
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplasia... OMIM:161200
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Abnormality of the dentition, Rickets, Bone pain, Renal phosphate wasting, Hypophos... OMIM:193100
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Cataract, Rhizomelia, Proximal placement of thumb, Short neck, Abnormal... ORPHA:93267
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f... ORPHA:1780
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Abnormality of the dentition, Delayed skeletal maturation, Pigmentary retinopathy, Micropenis, Re... ORPHA:3363
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Unilateral Ocular Duplication
Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma ORPHA:3374
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Single transverse palmar crease, Metatarsus adductus, Brushfield spots, Optic nerve dys... OMIM:214110
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Corneal dystrophy, Iris coloboma OMIM:612868
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fused teeth, Contrac... OMIM:300166
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Sacral dimple, Hypospadias, Single transverse palmar creas... OMIM:223370
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Smooth philtrum, Broad hallux, Hypospadias, Exaggerated cupid's bow, Tapered finge... OMIM:618659
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atresia, Horseshoe k... OMIM:115470
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Scoliosis, Multiple cafe-au-lait s... ORPHA:1445
Facial Clefting, Oblique, 1
Coloboma, Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, T... OMIM:618529
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Postaxial hand polydactyly, Optic disc colobom... ORPHA:1454
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Metaph... OMIM:255800
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Limitation of joint mobility, Optic atrophy, Osteoporosis, O... ORPHA:99742
Adnp Syndrome
Joint laxity, Thin upper lip vermilion, Juvenile cataract, Broad hallux, Single transverse palmar... ORPHA:404448
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Single transverse palmar crease, Sclerocornea, Cleft palate, Anteriorly pl... OMIM:309801
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Desmoid Tumor
Intestinal polyposis, Abnormality of retinal pigmentation, Intestinal obstruction, Malabsorption,... ORPHA:873
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Microdontia, Bifid uvula, Ta... OMIM:613458
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate, Coloboma, Cut... OMIM:606851
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
15Q24 Microdeletion Syndrome
Joint laxity, Hypospadias, Proximal placement of thumb, Abnormality of the dentition, Abnormal th... ORPHA:94065
Microphthalmia, Syndromic 5
Joint laxity, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cleft palate, Microcornea, Col... OMIM:610125
Morm Syndrome
Micropenis, Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... OMIM:620107
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Cataract, Hyperlordosis, Facial hypero... ORPHA:2780
Baralle-Macken Syndrome
Cataract, Urinary incontinence, Tapered finger, High, narrow palate, Kyphosis, Cafe-au-lait spot OMIM:619255
Meckel Syndrome, Type 8
Cleft upper lip, Short neck, Cleft palate, Polydactyly, Talipes equinovarus, Polycystic kidney dy... OMIM:613885
Jacobsen Syndrome
Hypospadias, Short neck, Missing ribs, Pyloric stenosis, Flexion contracture, Optic atrophy, Micr... OMIM:147791
Joubert Syndrome 20
4-5 toe syndactyly, Renal cyst, Retinopathy, Postaxial polydactyly OMIM:614970
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Rhizomelic Chondrodysplasia Punctata
Cataract, Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stip... ORPHA:177
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Lip pit, Tapered finger, Broad thumb, Hypodontia, Scoliosis, Iris colobo... ORPHA:1236
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cataract, Submucous cleft hard palate, Cleft palate, Bifid uvula, Failure of... ORPHA:2250
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Joint stiffness, Kyphosis, Op... ORPHA:2510
Treacher-Collins Syndrome
Hypoplasia of penis, Cataract, Abnormal dental morphology, Abnormal dental enamel morphology, Cle... ORPHA:861
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Death in adolescence... OMIM:560000
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Bardet-Biedl Syndrome 6
Syndactyly, Hypospadias, Postaxial polydactyly, Renal cyst, Pigmentary retinopathy, Rod-cone dyst... OMIM:605231
Neuroocular Syndrome
Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Microcornea, Downturned ... OMIM:619539
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig... OMIM:117650
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... OMIM:258860
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Bone pain, Hypercalciuria, Nephrolithiasis, ... ORPHA:157215
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul... ORPHA:289157
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ... OMIM:617781
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Thoracolumbar scoliosis, Short neck, Optic disc coloboma, High palate, Iris coloboma, Bifid uvula OMIM:300472
Multiple Sulfatase Deficiency
Broad hallux phalanx, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiff... ORPHA:585
Myhre Syndrome
Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal penis morphology, Hypospadias, Ab... ORPHA:2588
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Hydroureter, Cataract, A... ORPHA:1458
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Hip dysplasia, Vertebr... ORPHA:531151
Harrod Syndrome
Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Kyphosis, Dental malocclusio... ORPHA:2115
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Upper l... ORPHA:231140
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... OMIM:150250
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Cataract, Broad hallux, Single transverse palmar crease, ... OMIM:614105
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Chorioretinal c... ORPHA:857
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr... OMIM:277440
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Vesicoureteral reflux, ... OMIM:157800
Peters-Plus Syndrome
Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move... OMIM:261540
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Cataract, Hypospadias, Optic nerve hypoplasia, Sclerocorne... OMIM:206900
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Microcornea, Polydactyly... ORPHA:313781
Joubert Syndrome 10
Deep philtrum, Rod-cone dystrophy, Thick vermilion border, Postaxial polydactyly OMIM:300804
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hyperphosphaturia, Abnormality of dental color, Corneal opacity, Recurrent fractures,... OMIM:163200
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Deep philtrum, Hip di... OMIM:613884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Hyperlordosis, Flexion contracture, Hip dislocation, Macroglossia, Pigmentary retinopathy, Scolio... OMIM:613156
Holoprosencephaly
Hypoplasia of penis, Short neck, Deep philtrum, Abnormal form of the vertebral bodies, Chorioreti... ORPHA:2162
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Finger clinod... ORPHA:2751
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th... OMIM:604757
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Aicardi Syndrome
Abnormality of skin pigmentation, Short philtrum, Chorioretinal coloboma, Intestinal polyposis, C... ORPHA:50
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
White-Sutton Syndrome
Joint laxity, Thin upper lip vermilion, Short neck, Optic atrophy, Downturned corners of mouth, A... ORPHA:468678
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... OMIM:606612
Kbg Syndrome
Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Single transverse palmar c... OMIM:148050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Cataract, Hypospadias, Wormian bones, Tracheomalacia, Small hand, Fibul... ORPHA:444077
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Abnormal distal phalanx morphology of finger, Abnormality of the hand, Hyperlordosis, U... ORPHA:1387
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Rod-cone dystrophy, Macular hypopigmentation, Polydactyly OMIM:617119
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Anal stenosis, Block vertebrae, Abnormal odontoid process m... OMIM:613686
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Arnold-Chiari Malformation Type I
Stiff neck, Urinary incontinence, Areflexia of upper limbs, Fused cervical vertebrae, Scoliosis, ... ORPHA:268882
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cataract, Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hy... ORPHA:2772
Lowry-Wood Syndrome
Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Multipl... OMIM:226960
Coffin-Siris Syndrome 11
Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of... OMIM:618779
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M... ORPHA:2557
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Cataract, Short neck, Short metatarsal, Osteoporosis... OMIM:612463
Suleiman-El-Hattab Syndrome
Optic disc pallor, Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip ver... OMIM:618950
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Meckel Syndrome, Type 1
Short neck, Lobulated tongue, Iris coloboma, Syndactyly, Cleft upper lip, Postaxial foot polydact... OMIM:249000
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cataract, Exaggerated cupid's bow, Sclerocornea, Short neck, Cleft ... OMIM:614230
Microphthalmia, Syndromic 1
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial... OMIM:309800
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalange... ORPHA:2658
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Attenuation of retinal blood vessels, Thin upper lip vermilion, Cataract, Rhizomelia, Proteinuria... OMIM:614376
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Peters anomaly, Broad thumb, Smooth philtrum, Brachydactyly OMIM:614526
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... ORPHA:175
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Abnormal intervertebral disk morpho... ORPHA:85194
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Cataract, Microcornea, Coloboma, Iris transillumination defect, O... OMIM:617306
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Retinal dystrophy OMIM:610156
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Widely spaced teeth, Micropenis, Iris coloboma, Abnormal optic chiasm morphology, Hypospadias, Cl... ORPHA:268261
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi... OMIM:209900
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Pos... OMIM:616362
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Exudative Vitreoretinopathy 4
Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrha... OMIM:601813
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Cleft u... OMIM:612582
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Cataract, Ectopic kidney, Neonatal death, Cystic renal dyspl... OMIM:613730
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Cohen Syndrome
Short metacarpal, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Single transv... OMIM:216550
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achilles tendon contra... OMIM:607155
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Delayed skeletal maturation, Abnormal rib morphology, Downturned corners of mouth, Abno... ORPHA:2643
Marshall Syndrome
Knee osteoarthritis, Clinodactyly of the 5th finger, Small proximal tibial epiphyses, Thick upper... OMIM:154780
Joubert Syndrome 7
Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney dise... OMIM:611560
Ring Chromosome 14 Syndrome
Pigmentary retinopathy, High palate, Short neck OMIM:616606
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Martsolf Syndrome 2
Cataract, Overlapping toe, Camptodactyly of finger, Developmental cataract, Camptodactyly OMIM:619420
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... OMIM:166750
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Renal insufficiency, Cataract, Unilateral renal agenesis, 3-4 finger cutaneous... OMIM:181270
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Acrocallosal Syndrome
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinodactyly of the 5th finge... OMIM:200990
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Cataract, Femoral retroversion, Micromelia, Kypho... ORPHA:79107
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic... ORPHA:289176
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un... OMIM:616300
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Intestinal malrotation, Ve... OMIM:614701
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Abnormal palate morphology, Bilater... ORPHA:44
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyl... OMIM:607361
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Peters Plus Syndrome
Ureteral duplication, Micromelia, Short neck, Microcornea, Widely spaced teeth, Clinodactyly of t... ORPHA:709
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A... OMIM:613464
Joubert Syndrome 23
Coloboma, Polydactyly OMIM:616490
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Short neck, Generalized joint laxity, Tibial bowing, Coloboma, High ... ORPHA:251028
Trisomy 17P
Hypoplasia of penis, Urethral valve, Cataract, Prominent metopic ridge, Tapered finger, Short nec... ORPHA:261290
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, P... OMIM:618142
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Cataract, Thick lowe... OMIM:220500
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Cataract, Dental crowding, Shor... OMIM:300990
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Arachnodactyly, Single transverse palmar crease, Contracture of the distal inter... ORPHA:83617
Infantile Systemic Hyalinosis
Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Osteomalacia, Recurr... ORPHA:2176
Renal Tubular Acidosis Iii
Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Rickets, Nephrocalcinosis OMIM:267200
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Cataract, Hip dislocation, Spinal canal stenosis, Developmental cataract... ORPHA:436174
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Bull's eye maculopathy, Short neck, Hemivertebrae, High ... OMIM:213980
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Osteomalacia, Coxa valga, Avascular necrosis of the capital femora... ORPHA:1901
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border... ORPHA:544254
Cerebrooculofacioskeletal Syndrome 2
Cataract, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Developmental cataract, De... OMIM:610756
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Hypospadias, Postaxial polydactyly OMIM:615985
Limb Body Wall Complex
Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, C... ORPHA:2369
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Enlarged joints, Tapered finger, Short neck, Triangular mouth, Flattened ep... OMIM:607131
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Peroxisome Biogenesis Disorder 7A (Zellweger)
Death in infancy, Cataract, Epiphyseal stippling, High palate, Talipes equinovarus, Long philtrum OMIM:614872
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
3Mc Syndrome 3
Sacral dimple, Corneal opacity, Cleft upper lip, Preaxial polydactyly, Horseshoe kidney, Micropen... OMIM:248340
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thu... ORPHA:435638
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Kyphosis, Osteoporosis, Scoliosis OMIM:618234
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... ORPHA:1106
Vitamin K Antagonist Embryofetopathy
Cataract, Short neck, Optic atrophy, Punctate vertebral calcifications, Epiphyseal stippling, Mac... ORPHA:1914
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Renal cyst OMIM:109130
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral de... ORPHA:2410
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Scoliosis, Brachydactyly OMIM:613819
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Cataract, Micromelia OMIM:273680
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, General... OMIM:613388
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Sacral dimple, Cataract, Postaxial polydactyly, Tapered finger, Abnormality of the ... OMIM:300968
Charge Syndrome
Abnormal tibia morphology, Hemivertebrae, Abnormality of bone mineral density, Chorioretinal colo... ORPHA:138
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Uraciluria, Optic atrophy OMIM:274270
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morp... ORPHA:2636
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... ORPHA:198
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered finger, Gen... OMIM:619721
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Short Stature-Micrognathia Syndrome
Joint laxity, Penoscrotal hypospadias, Rhizomelia, Cataract, Bowing of the legs, Coxa valga, Acce... OMIM:617164
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... ORPHA:249
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, A... ORPHA:290
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Bone pain, Tooth abscess ORPHA:89937
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Os odontoideum, Optic disc pallor, Irregular dentition, Cataract, Macular coloboma, Macular atrop... OMIM:619260
Peroxisome Biogenesis Disorder 1A (Zellweger)
Single transverse palmar crease, High, narrow palate, Aminoaciduria, High palate, Death in childh... OMIM:214100
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Recurrent frac... ORPHA:394
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler... ORPHA:284160
Kinsship Syndrome
Osteopenia, Single transverse palmar crease, Short neck, Downturned corners of mouth, Short philt... OMIM:619297
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossification, Bifid uvula, Lumba... OMIM:183900
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Coloboma, Foot oligoda... OMIM:601357
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity, Genu recurvatum, Palmoplantar keratoderma, ... ORPHA:578
Proboscis Lateralis
Cataract, Corneal opacity, Optic nerve hypoplasia, Unilateral renal agenesis, Agenesis of canine,... ORPHA:141099
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate ... OMIM:302960
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Short neck, Clinodactyly of the 5th... ORPHA:1587
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Kyphosis, Abnormal sacrum morphology, Optic atrophy, Coloboma, O... ORPHA:324737
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Osteomyelitis, Rod-cone dystrophy, Kyphosis, P... ORPHA:88628
Oculodentodigital Dysplasia
Abnormal form of the vertebral bodies, Microcornea, Clinodactyly of the 5th finger, Finger syndac... ORPHA:2710
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Syndactyly, Polydactyly, Smooth philtrum OMIM:602501
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... OMIM:133780
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly... ORPHA:1345
Robinow Syndrome
Dental crowding, Hemivertebrae, Orofacial cleft, Webbed penis, Micropenis, Fused thoracic vertebr... ORPHA:97360
Cystinosis
Renal insufficiency, Proteinuria, Corneal opacity, Malabsorption, Rickets, Renal tubular dysfunct... ORPHA:213
Stiff Skin Syndrome
Cataract, Elbow flexion contracture, Limited shoulder movement, Knee flexion contracture, Camptod... OMIM:184900
W Syndrome
Hypoplasia of the ulna, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus adductus, Submu... ORPHA:2804
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Missing ribs, Hemivertebrae, Cleft palate, Coloboma, Hydronephrosis, Ana... OMIM:220210
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Cataract, Short neck, Short toe, Short metatarsal, O... OMIM:103580
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Rickets, Hypercalciuria OMIM:602722
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Chorioretinal dysplasia, Abnormal pupil morphology, Deep philtrum, Gingivitis, O... ORPHA:534
Witteveen-Kolk Syndrome
Proximal placement of thumb, High, narrow palate, Anisocoria, Male urethral meatus stenosis, Micr... OMIM:613406
Lateral Meningocele Syndrome
Smooth philtrum, Vertebral fusion, Neurogenic bladder, Dental crowding, Short neck, Kyphosis, Cle... OMIM:130720
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated sk... ORPHA:373
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Nephrolithiasis, Nephrocalcinosis, Distal renal tub... OMIM:179800
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Dental malocc... OMIM:601552
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Deep philtrum, Hyperex... OMIM:227330
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, Thin lo... OMIM:619194
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Kyphoscoliosis, Neonatal... ORPHA:35173
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr... OMIM:203500
Martsolf Syndrome 1
Thoracic scoliosis, Osteopathia striata, High palate, Short philtrum, Finger joint hypermobility,... OMIM:212720
Weill-Marchesani Syndrome
Cataract, Ectopia lentis, Short thumb, Limitation of joint mobility, Brachydactyly ORPHA:3449
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Everted lower lip vermilion, Scoliosis, Displacement of... ORPHA:893
Myhre Syndrome
Short neck, Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cleft lip, Shor... OMIM:139210
Loeys-Dietz Syndrome 5
Smooth philtrum, Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate,... OMIM:615582
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Pelger-Huet Anomaly
Abnormality of the dentition, Kyphosis, Upper limb undergrowth, Gingival overgrowth, Polydactyly,... OMIM:169400
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Aicardi Syndrome
Retinal detachment, Cataract, Block vertebrae, Proximal placement of thumb, Cleft upper lip, Hiat... OMIM:304050
Refsum Disease
Abnormality of retinal pigmentation, Short metacarpal, Renal insufficiency, Cataract, Hammertoe, ... ORPHA:773
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Bowing of the legs, Rickets, Glycosuria, Aminoaciduria, Low-molecular-weight p... OMIM:615605
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Joint laxity, Multicystic kidney dysplas... OMIM:120330
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Hypospadias, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Microphallus,... ORPHA:397590
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiph... OMIM:114290
Meckel Syndrome, Type 2
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Renal cyst, Cleft p... OMIM:603194
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Rhizomelia, Hypospadias, Sclerocornea, 2-3 toe syndactyly, Microcornea, Coloboma, Ectop... OMIM:615877
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Kyphosis, Deep philtrum,... ORPHA:404440
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Neu-Laxova Syndrome
Osteopenia, Cataract, Abnormality of the philtrum, Osteomalacia, Micromelia, Flexion contracture,... ORPHA:2671
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal sacrum morphology, Horsesho... ORPHA:3109
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Cataract, Limited mobility of proximal interphalangeal joint, Op... OMIM:222300
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... ORPHA:3103
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Furrowed tongue ORPHA:2743
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Hemivertebrae, Horseshoe kidney, Coloboma, Anal atresia OMIM:619318
Diprosopus
Abnormality of retinal pigmentation, Non-midline cleft lip, Cleft palate ORPHA:1681
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Zimmermann-Laband Syndrome
Hallux valgus, Cataract, Generalized hyperpigmentation, Short neck, Supernumerary tooth, Gingival... ORPHA:3473
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Single transverse palmar crease, High, narrow palate, Abnormal curvature of the verteb... OMIM:619475
Retinitis Pigmentosa 89
Retinal thinning, Postaxial polydactyly, Esophageal varix, Hyperautofluorescent retinal lesion, R... OMIM:618955
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, High palate, Micropenis, Hy... OMIM:619185
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Renal hypoplasia, Patellar hypoplasia, Gingival overgrowth, ... ORPHA:464288
Schilbach-Rott Syndrome
Hypospadias, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous synd... OMIM:164220
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... OMIM:277170
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Prominent metopic ridge, Sacral dimple, Overlapping toe, Postaxial poly... OMIM:613792
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, Abnormality of sk... ORPHA:235
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Small... ORPHA:2714
Mend Syndrome
Sacral dimple, Cataract, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyl... OMIM:300960
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Joubert Syndrome 14
Tented upper lip vermilion, Morning glory anomaly, Postaxial polydactyly, Optic atrophy, Renal cy... OMIM:614424
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Craniosynostosis, Coxa valga, Delayed skeletal maturation, H... ORPHA:2163
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Short neck, Renal cyst, Premature g... OMIM:113620
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Abnormality of retinal pigmentation, Delayed skeletal... ORPHA:480
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Cataract, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, O... OMIM:618727
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Cataract, Femoral retroversion, Cleft upper lip, Kyphoscoliosis, Cleft palate OMIM:607371
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Thin upper lip vermilion, Cataract, Corneal opacity, Chorioretinal dysplasia,... OMIM:152950
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Weill-Marchesani Syndrome 2
Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordo... OMIM:608328
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Buratti-Harel Syndrome
Broad hallux, Hypospadias, Velopharyngeal insufficiency, Submucous cleft hard palate, Bifid uvula... OMIM:619314
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa... OMIM:608670
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy, Pierre-Robin sequence OMIM:614284
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Charge Syndrome
Abnormal palmar dermatoglyphics, Hemivertebrae, Hand monodactyly, Coloboma, Micropenis, Iris colo... OMIM:214800
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine OMIM:266130
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Joubert Syndrome 27
Retinopathy, Thick lower lip vermilion, Polydactyly OMIM:617120
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Accessory oral frenulum, Hamartoma of tongu... OMIM:616546
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Cataract, Short neck, Palmar pits,... ORPHA:77301
Warburg Micro Syndrome 3
Cataract, Kyphoscoliosis, Flexion contracture, Optic atrophy, Narrow palate, Developmental catara... OMIM:614222
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... ORPHA:1067
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Dental crowding, Tapered finger, Abnormality of the dentition, Horseshoe k... ORPHA:65286
Senior-Loken Syndrome 8
Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Stage 5 chronic kidney disease, Po... OMIM:616307
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs ORPHA:882
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Flexion contr... ORPHA:261537
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival ov... ORPHA:93400
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... ORPHA:178303
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Hip dislocation, Scoliosis, Death in adolescence OMIM:619059
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Hyperphosphaturia, Choroidal neovascularization, Osteomalacia, Abnormal ... ORPHA:51608
Zellweger Syndrome
Death in infancy, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Abnormal ... ORPHA:912
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Marinesco-Sjögren Syndrome
Short palm, Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal f... ORPHA:559
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Cataract, Single transverse p... OMIM:247200
Schwartz-Jampel Syndrome
Micromelia, Short neck, Coxa vara, Microcornea, High palate, Wrist flexion contracture, Death in ... ORPHA:800
Weill-Marchesani Syndrome 1
Thin bony cortex, Cataract, Lumbar hyperlordosis, Ectopia lentis, Joint stiffness, Microspheropha... OMIM:277600
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Urinary incontinence, Cleft hard palate, Abnormal pupil morphology, Calcaneovalg... ORPHA:261552
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Cataract, Tapered finger, Short toe, Orofacial cleft, Joint hyperflexibility... ORPHA:127
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Werner Syndrome
Abnormality of retinal pigmentation, Increased bone mineral density, Cataract, Miscarriage, Rocke... ORPHA:902
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... ORPHA:79432
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Arachnodactyly, White hair, Ocular albinism, Reduced bone mineral density, High palate,... ORPHA:2720
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Delayed c... OMIM:618460
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Cataract, Down-sloping shoulders, Single transverse palmar crease, Poste... OMIM:616200
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... ORPHA:93357
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma OMIM:615219
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Joubert Syndrome 28
Joint laxity, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Osteochondrosis, Retinopathy, ... ORPHA:2396
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Intestinal pseudo-ob... OMIM:309900
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Submuc... OMIM:613805
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, C... ORPHA:79345
Cln3 Disease
Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Urinary bladder sphincte... ORPHA:228346
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Delayed epiphyseal ossification, Flexion contracture, Tap... OMIM:616007
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Metaphyseal widening, Tibial bowing, Iris atrophy, Osteoporosis, Increased susceptibi... OMIM:259770
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo... ORPHA:352665
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi... ORPHA:2886
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, T... OMIM:612651
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... OMIM:134600
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... OMIM:615989
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Overlapping toe, Short neck, Cleft lip, Deep philtrum, Cleft palate, Downturned corners... OMIM:618571
Kabuki Syndrome
Hypoplasia of penis, Hemivertebrae, Orofacial cleft, Abnormal form of the vertebral bodies, Micro... ORPHA:2322
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Cranioectodermal Dysplasia 3
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... OMIM:614099
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Postaxial hand ... ORPHA:110
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Single transverse palmar crease, Renal cyst, High palate, De... OMIM:614866
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Short neck, Short metatarsal, Renal cyst, Macular degeneration,... OMIM:266920
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Distal renal tubular acidosis, Rickets, Nephrocalcinosis OMIM:611590
Linear Nevus Sebaceus Syndrome
Genu recurvatum, Melanocytic nevus, Vertebral segmentation defect, Irregular hyperpigmentation, I... ORPHA:2612
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Microcornea, Persistent pupillary membrane, Hypoplasia of the primary teeth, 4-5... OMIM:257850
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Ami... ORPHA:414
Intermediate Uveitis
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... ORPHA:279914
Mowat-Wilson Syndrome
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Flexion contr... ORPHA:2152
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Enuresis nocturna, Downtur... OMIM:619680
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Submucous cleft hard palate, Unilateral cleft lip, Supernumerary ribs, Six lumb... OMIM:619122
Joubert Syndrome 9
Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Astigmatism, Scoliosis OMIM:612285
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Alstrom Syndrome
Cone/cone-rod dystrophy, Renal insufficiency, Abnormality of the hand, Abnormality of the dentiti... OMIM:203800
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Cataract, Abnormality of the vertebral column, Short distal phalanx of finger OMIM:302950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Coloboma, Death in childhood OMIM:613153
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Shor... OMIM:617925
Nance-Horan Syndrome
Retinal detachment, Short metacarpal, Cataract, Abnormality of the dentition, Supernumerary tooth... ORPHA:627
Frontofacionasal Dysplasia
Cataract, Cleft upper lip, Orofacial cleft, Microcornea, Iris coloboma, Bifid uvula OMIM:229400
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ureteral stenosis, Arachnodactyly, Corneal opacity, Cataract, Abnormal ... ORPHA:2719
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Cataract, Hypospadias, Multiple joint contractures, Selective too... ORPHA:2959
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Brachycephaly, Trichomegaly, And Developmental Delay
Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li... OMIM:617412
Harlequin Ichthyosis
Cataract, Limitation of joint mobility, Hand polydactyly, Foot polydactyly, Eclabion ORPHA:457
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Clinodactyly of the 5th finge... OMIM:620183
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Cataract, Short neck, Short metatarsal, Osteoporosis... OMIM:612462
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... ORPHA:897
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote... OMIM:309000
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Short neck, Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Talipes equinovarus,... OMIM:616789
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Orofacial cleft, High palate, Short phil... ORPHA:221120
Canavan Disease
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy ORPHA:141
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt... OMIM:619142
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Hip dysplasia, Scolio... OMIM:611961
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, High palate, Scoliosis ORPHA:329336
Marcus-Gunn Syndrome
Morning glory anomaly, Cleft lip, Nephrolithiasis, Cleft palate, Coloboma ORPHA:91412
Native American Myopathy
Joint laxity, Cleft palate, Abnormal curvature of the vertebral column, Downturned corners of mou... ORPHA:168572
Oculodentodigital Dysplasia
Selective tooth agenesis, Uveitis, Microcornea, High palate, Joint contracture of the 5th finger,... OMIM:164200
Intellectual Developmental Disorder, Autosomal Dominant 58
Few cafe-au-lait spots, Dental crowding, Single transverse palmar crease, Protruding tongue, Subm... OMIM:618106
Hypercholanemia, Familial 1
Fat malabsorption, Rickets, Steatorrhea OMIM:607748
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Thoracic scoliosis, Broad hallux, Single transverse palmar... OMIM:620186
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft lip and pal... OMIM:157170
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor... OMIM:304120
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Vesicourete... OMIM:616580
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Decrea... OMIM:612394
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Functional abnormality of the bladder, Yellow/white lesions of the retina... ORPHA:100996
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, Submucous cleft soft palate, Cleft... ORPHA:69085
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Abnormal preputium morphology, Glandular hypospadias, Deep palmar crease, Shor... ORPHA:293725
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... OMIM:617895
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Flexion contracture, Optic atrophy OMIM:252011
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Death in infancy, Generalized hyperpigmentation, Numerous co... ORPHA:2481
Warburg Micro Syndrome 2
Cataract, Overlapping toe, Flexion contracture, Optic atrophy, Developmental cataract, Microcorne... OMIM:614225
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Cleft palate, Unilateral cleft lip... OMIM:610828
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Short neck, Orofacial cleft, Wide mouth, Coloboma, Long philtrum OMIM:614583
Down Syndrome
Joint laxity, Cataract, Sandal gap, Bilateral single transverse palmar creases, Aganglionic megac... ORPHA:870
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Bardet-Biedl Syndrome 20
Papilledema, Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, E... ORPHA:2554
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Single transverse palmar crease, Tented upper lip vermilion, Kyphosis, 2-3... OMIM:616449
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short neck, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Wide... OMIM:619950
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... OMIM:268305
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epi... ORPHA:1433
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Flexion con... OMIM:619321
Acromelic Frontonasal Dysostosis
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft upper lip, Pre... OMIM:603671
Jalili Syndrome
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... ORPHA:1873
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Renal cyst, Clinodactyly of the 5th finger, Micropenis, Pelvic kidne... ORPHA:464306
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Cataract, Microcornea... ORPHA:217346
Prolidase Deficiency
Abnormality of retinal pigmentation, Arachnodactyly, Carious teeth, Genu valgum, Reduced bone min... ORPHA:742
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Hyperphosphaturia, Rickets, Hypercalciuria, Generalized ami... ORPHA:2088
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Cataract, Micromelia, Short long bone, Talipes equinovarus, Narrow mout... OMIM:224410
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Joubert Syndrome 3
Retinal dystrophy, Stage 5 chronic kidney disease, Pigmentary retinopathy, Nephronophthisis, Open... OMIM:608629
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Cleft soft palate, Kyphoscoliosis, Atlantoaxial instability, Microcornea, Bladder div... OMIM:614557
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Tented upper lip vermilion, Thin upper lip vermilion, Death ... OMIM:619517
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloi... OMIM:609049
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... OMIM:311200
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Cataract, Aplastic clavicle,... ORPHA:50945
Cystinosis, Nephropathic
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... OMIM:219800
Cockayne Syndrome Type 1
Renal insufficiency, Cataract, Proteinuria, Foot joint contracture, Hypermelanotic macule, Delaye... ORPHA:90321
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Abnormality iris morphology, Cleft palate, Thick vermilion border, T... ORPHA:250999
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, High, narrow palate, Flexion contracture, Colob... OMIM:180849
Proteus Syndrome
Central heterochromia, Abnormal finger morphology, Renal cyst, Abnormal form of the vertebral bod... ORPHA:744
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Retinal dystrophy, Single transverse palmar... OMIM:607932
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Abnormality of the dentition, Delayed skeletal maturation, Osteoporosis, Red... ORPHA:2235
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Congenital hip dislocation, Abnormal periodontium morphology, High palate, Joint laxi... ORPHA:480880
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Lumbar hyperlordosis, Optic nerve hypoplasia, Optic atrophy, Abnorm... ORPHA:370959
Incontinentia Pigmenti
Abnormal hand morphology, Orofacial cleft, Uveitis, Abnormality of skin pigmentation, Spina bifid... ORPHA:464
Septooptic Dysplasia
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger OMIM:182230
Alpha-Mannosidosis, Adult Form
Osteopenia, Optic disc pallor, Cataract, Corneal opacity, Oligosacchariduria, Macroglossia ORPHA:309288
Spondyloocular Syndrome
Long toe, Osteopenia, Retinal detachment, Cataract, Overlapping toe, Arachnodactyly, Femur fractu... OMIM:605822
Cockayne Syndrome
Urinary incontinence, Congenital contracture, Lentiglobus, Retinal arteriolar constriction, Retin... ORPHA:191
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Hydrolethalus
Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft, Cleft palate... ORPHA:2189
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... ORPHA:2754
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Congenital Tufting Enteropathy
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Malabsorption, Corneal er... ORPHA:92050
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Rod-cone dystrophy, Pigmentary retinopathy, Subcapsular cataract, Broad palm OMIM:268020
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Diamond-Blackfan Anemia
Hypospadias, Cleft soft palate, Absent thumb, Short neck, Short thumb, Partial duplication of thu... ORPHA:124
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Flexion contracture, Coloboma, Scoliosis, Retinal degeneration OMIM:615249
Branchioskeletogenital Syndrome
Short neck, Upper limb peromelia, Anteriorly placed anus, Downturned corners of mouth, Short phil... ORPHA:1299
Mccune-Albright Syndrome
Hyperphosphaturia, Osteomalacia, Recurrent fractures, Accelerated skeletal maturation, Fibrous dy... ORPHA:562
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Renal insufficiency, Abnormal acetabulum morphology, Hypospadias... ORPHA:397715
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Arachnodactyly, Camptodacty... ORPHA:2461
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Unilateral renal agenesis, Postaxial polydactyly, Optic atrophy, Esophageal var... OMIM:614576
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... ORPHA:42775
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Abnormality of the dentition, Open bite, Sho... OMIM:115150
Birk-Barel Syndrome
Sacral dimple, Tented upper lip vermilion, Single transverse palmar crease, High palate, Short ph... OMIM:612292
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Abnormality of the tongue, Increased susceptibility to fractures, Pigmentary r... ORPHA:216866
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Short phalanx ... OMIM:600373
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, H... OMIM:618150
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Rickets, Corneal crystals, Renal tubular dysfunction, Pigmentary retinopathy, ... ORPHA:411629
Mucopolysaccharidosis Type 3
Flexion contracture, Abnormal form of the vertebral bodies, Reduced bone mineral density, Retinal... ORPHA:581
Stickler Syndrome
Joint dislocation, Osteoarthritis, Bone pain, Uveitis, Reduced bone mineral density, Abnormal for... ORPHA:828
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Abnormality of retinal pigmentation, Kyphosis, Melanocytic nevus, Scoliosis, M... ORPHA:1969
Marshall Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormality of the dentition, Osteoarthritis, Thick... ORPHA:560
Lathosterolosis
Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Cataract, Prominent meto... ORPHA:46059
Coach Syndrome 1
Optic disc pallor, Unilateral renal agenesis, Postaxial hand polydactyly, Multiple small medullar... OMIM:216360
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Abnormal vertebral morphology, Papilledema, Abnormal dental ... ORPHA:217085
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesoph... ORPHA:59315
Cerebellar Ataxia-Hypogonadism Syndrome
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Joint hypermobility, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Ab... ORPHA:85410
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced... OMIM:615873
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Joint laxity, Scapular winging, Hyperlordosis, Pigmentary retinopathy, High palate OMIM:600462
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Malabsorption, Iridocyclitis, Keratoconjunctivitis, Nephrocalcinosi... OMIM:240300
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Mowat-Wilson Syndrome
Delayed eruption of teeth, Cataract, Hypospadias, Aganglionic megacolon, Pyloric stenosis, Submuc... OMIM:235730
Joubert Syndrome 17
Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Abnormal vertebral morphology, Papilledema, Abnormal dental ... ORPHA:217093
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Generalized hyperpigmentation, Abnormal dental enam... ORPHA:1071
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling, Knee flexion contracture, Multiple re... OMIM:618733
Zttk Syndrome
Flexion contracture, Hemivertebrae, Downturned corners of mouth, High palate, Short philtrum, Bif... OMIM:617140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn... OMIM:613154
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Abnormality of the dentition, Flexion contracture, Limitation of joint mobility, Osteol... ORPHA:90153
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Flexion... OMIM:210710
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Rickets, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Joint stiffness, Ectopia lentis ORPHA:1885
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Prominent metopic ridge, Craniosynostosis, Cleft palate, Furrowed tongue, Downturned ... ORPHA:453499
Cranioectodermal Dysplasia 2
Short neck, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxity,... OMIM:613610
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Pigmentary retinopathy, Knee flexion contracture ORPHA:3208
Aniridia-Absent Patella Syndrome
Aniridia, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
Cockayne Syndrome B
Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the iris, Abnormality of... OMIM:133540
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Proteus-Like Syndrome
Retinal detachment, Cataract, Genu recurvatum, Open bite, Abnormal pupil morphology, Hyperostosis... ORPHA:2969
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Alagille Syndrome 1
Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Band keratopathy, Multiple small medulla... OMIM:118450
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality ... ORPHA:2753
Lymphedema-Hypoparathyroidism Syndrome
Renal insufficiency, Cataract, Increased carrying angle, Nephropathy, Brachydactyly OMIM:247410
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Lathosterolosis
Toe syndactyly, Cataract, Lumbosacral meningocele, Postaxial hand polydactyly, Osteoporosis, Ging... OMIM:607330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Lumbar hyperlordosis, Proteinuria, Joint stiffness, Heparan ... ORPHA:505248
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Cataract, Abnormal thumb morphology, Metatarsus adductus, Spina bif... ORPHA:500095
Orofaciodigital Syndrome Xiv
Natal tooth, Broad hallux, Retinitis, Hamartoma of tongue, Epispadias, Postaxial hand polydactyly... OMIM:615948
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Hypoplasia of first ribs, Foot oligodactyly, Triphalangeal thumb... OMIM:154400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Cleft upp... OMIM:236670
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Rickets, Renal cyst, Steatorrhea, Fat malabsorption ORPHA:79303
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Coloboma, Peters anomaly, Abnormality of the palmar creases, Smooth ... OMIM:618652
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Death in infancy, Cataract, Cleft upper lip, Spinal rigidity, Cleft palate, Buphthalmos, Macroglo... OMIM:613150
Joubert Syndrome 39
Retinal dystrophy, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial po... OMIM:619562
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Cataract, Oral mucosal blisters, Narrow mouth, Esophageal str... OMIM:226600
Hypophosphatemic Rickets And Hyperparathyroidism
Bone pain, Rickets, Renal phosphate wasting, Hypophosphatemic rickets, Rachitic rosary OMIM:612089
Distal Renal Tubular Acidosis
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Hypercalci... ORPHA:18
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Thick lower lip vermilion, Submucous cleft hard palate, Horseshoe kidney, Wide mouth... OMIM:619103
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Aymé-Gripp Syndrome
Oligodontia, Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ridge, Tapered finge... ORPHA:1272
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han... OMIM:612863
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Submucous cleft hard palate, Renal hypoplasia, Vesicoureteral reflux, Bifi... OMIM:617660
Neurocardiofaciodigital Syndrome
Syndactyly, Optic disc pallor, Cataract, Sclerocornea, Thin vermilion border, Polydactyly, High p... OMIM:619869
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Submucous cleft hard palate, Ver... OMIM:301043
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... OMIM:617527
Hardikar Syndrome
Renal insufficiency, Hydroureter, Cleft soft palate, Intestinal malrotation, Thoracolumbar scolio... OMIM:301068
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Fat malabsorption, Rickets OMIM:211600
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Reduced bone mineral density, Shoulder dislocation, Delayed skeletal ... ORPHA:404454
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, High,... ORPHA:3472
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Submucous cleft hard pala... ORPHA:457279
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Nephrocalcinosis, Downturned c... ORPHA:79500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Flexion contracture of finger, Cataract, Abnormality of ... ORPHA:466768
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Cockayne Syndrome A
Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Square pelvis bon... OMIM:216400
Ramon Syndrome
Delayed eruption of teeth, Optic disc pallor, Kyphosis, Gingival fibromatosis, Narrow palate, Pig... OMIM:266270
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Optic disc hypoplasia, Wide penis, Downturned corners of mouth, Hypoplastic vertebral... ORPHA:3455
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Optic atrophy, Renal hypo... OMIM:617913
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Pyloric stenosis, Abnormal vitreous humor morpholog... ORPHA:1571
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Recurrent fractures, Generalized ... ORPHA:636
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Cataract, Rocker bottom foot, Short neck, Cleft palate, High p... OMIM:616038
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Delayed skeletal maturation, Long penis, Gingival ... ORPHA:769
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Usher Syndrome
Abnormality of retinal pigmentation, Abnormality of dental color, Cataract, Abnormal dental ename... ORPHA:886
Cerebellofaciodental Syndrome
Cataract, Single transverse palmar crease, Tapered finger, Short neck, Delayed skeletal maturatio... OMIM:616202
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Postaxial hand polydacty... OMIM:619879
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... OMIM:617088
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Faciocardiomelic Syndrome
Osteopenia, Dysharmonic bone age, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth... OMIM:612731
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Cataract, Rocker bottom foot, Tapered finger, Narrow mouth, Cleft palat... OMIM:601353
Roberts-Sc Phocomelia Syndrome
Short neck, Tetraphocomelia, Knee flexion contracture, Coloboma, High palate, Phocomelia, Wrist f... OMIM:268300
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Sterile pyuria, Tubulointerstitial nephritis, Aminoaciduria, Renal ... ORPHA:91500
Culler-Jones Syndrome
Cleft palate, Micropenis, Postaxial polydactyly, Cleft upper lip OMIM:615849
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Legius Syndrome
Inguinal freckling, Cataract, Axillary freckling, Nephrolithiasis, Multiple cafe-au-lait spots, D... ORPHA:137605
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... OMIM:220110
Desmosterolosis
Increased bone mineral density, Intestinal malrotation, Micromelia, Metatarsus adductus, Submucou... ORPHA:35107
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Congenital hip dislocation, Cataract, Kyphoscoliosis, Short thumb, Sup... OMIM:268400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Broad hallux, Optic nerve hypoplasia, Unilateral renal agenesis, Postaxi... ORPHA:457284
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Craniosynostosis ORPHA:1496
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Abnormal curvature of the vertebral column, Coloboma, High palate, Vesicouretera... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Abnormal curvature of the vertebral column, Coloboma, High palate, Vesicouretera... ORPHA:353277
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:617023
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Cleft Soft Palate
Cleft soft palate OMIM:119570
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Cardiofaciocutaneous Syndrome
Generalized hyperpigmentation, Abnormal morphology of ulna, Short neck, Submucous cleft hard pala... ORPHA:1340
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Malabsorption, Rickets, Hypercalciuria, ... OMIM:227810
Renpenning Syndrome 1
Thin upper lip vermilion, Cataract, Hypospadias, Macrodontia, Phimosis, Narrow mouth, Renal hypop... OMIM:309500
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Malabsorption, Enamel hypomineralization, Bicarbon... ORPHA:47159
Meckel Syndrome
Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, Cataract, Abnormal ... ORPHA:564
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Simpson-Golabi-Behmel Syndrome, Type 1
Accelerated skeletal maturation, Renal cyst, Vertebral segmentation defect, Narrow greater sciati... OMIM:312870
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Irregularity of vertebral bodies, Corneal opaci... ORPHA:580
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... OMIM:619503
Familial Multiple Lipomatosis
Bowing of the long bones, Odontogenic keratocysts of the jaw, Accelerated skeletal maturation, Co... ORPHA:199276
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Anal stenosis, Sandal gap, Cleft upper lip, Retinal pigment epitheli... OMIM:251260
Fanconi Anemia
Abnormal femur morphology, Reduced bone mineral density, Abnormality of skin pigmentation, High p... ORPHA:84
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Bohring-Opitz Syndrome
Joint dislocation, Prominent metopic ridge, Retinal atrophy, Ulnar deviation of the wrist, Cleft ... ORPHA:97297
Phakomatosis Pigmentokeratotica
Melanocytic nevus, Unilateral renal hypoplasia, Coloboma, Hemiatrophy, Scoliosis, Hypophosphatemi... ORPHA:2874
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Hypospadias, Cleft lip, Optic atrophy, Vesicoureteral reflux, R... OMIM:616975
Atypical Werner Syndrome
Sclerosis of hand bone, Reduced bone mineral density, Finger clinodactyly, Premature graying of h... ORPHA:79474
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Prominent metopic ridge, Tented upper lip vermilion, Deep philtrum, High palate, Polydactyly ORPHA:314655
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Coxa vara... OMIM:614976
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Restrictive Dermopathy 1
Ureteral duplication, Natal tooth, Hypospadias, Rocker bottom foot, Limb joint contracture, Kypho... OMIM:275210
Blau Syndrome
Nongranulomatous uveitis, Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Uveitis... OMIM:186580
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Scoliosis ORPHA:96
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvula, Lumbar hyperlordosis, Ar... ORPHA:500150
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Abnorm... OMIM:607872
Wilson Disease
Hyperphosphaturia, Proteinuria, Osteomalacia, Osteoarthritis, Osteoporosis, Nephrolithiasis, Hype... OMIM:277900
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Prominent metopic ri... ORPHA:2729
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Delayed skeletal maturation, Generalized joint laxity, Pigmentary retinopathy,... ORPHA:502423
Vater/Vacterl Association
Syndactyly, Hypospadias, Ectopic kidney, Absent radius, Short thumb, Esophageal atresia, Hypoplas... OMIM:192350
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Mend Syndrome
Sacral dimple, Cataract, Overlapping toe, Broad hallux, Asymmetry of the mouth, Long fingers, Kyp... ORPHA:401973
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Hyperextensibility of the finger joints, Cataract, Long penis, Nephrol... OMIM:135500
Viss Syndrome
Chronic gastritis, High, narrow palate, Generalized joint laxity, High palate, Broad uvula, Bifid... OMIM:619472
Velocardiofacial Syndrome
Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin ... OMIM:192430
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Knee flexion contracture, Epiphyseal stippling, Talipes equinovarus, S... OMIM:118650
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Delayed eruption of teeth, Cataract, Kyphoscoliosis,... OMIM:308300
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture OMIM:603387
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Coloboma, Torus palatinus, Solitary median maxil... OMIM:147250
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Degcags Syndrome
Osteopenia, Bilateral renal hypoplasia, Abnormality of skin pigmentation, Premature graying of ha... OMIM:619488
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd... OMIM:301022
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Scoliosis ORPHA:2518
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Micropenis, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Hyp... ORPHA:672
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterior cortical cataract,... ORPHA:67036
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Renal cyst, Absent or minimally ossified vertebral bodies, Short... ORPHA:93271
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Abnormal curvature of the vertebral column, Coloboma, Vesicoureteral reflux, Abn... ORPHA:353281
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cleft soft palate, Short neck, Submucous cleft soft palate, Micropenis ORPHA:2282
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Cleft ... ORPHA:790
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Rickets, Steatorrhea OMIM:607765
Celiac Disease, Susceptibility To, 1
Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En... OMIM:212750
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Joint laxity, Dental crowding, Kyphoscoliosis, High, narrow palate, Narrow mouth, ... OMIM:300967
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Anterior concavity of ... OMIM:216340
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Osteomalacia, Parathormone-independent increased renal tubular calcium reabsorpt... ORPHA:405
Pantothenate Kinase-Associated Neurodegeneration
Osteopenia, Bull's eye maculopathy, Fractures of the long bones, Optic atrophy, Pigmentary retino... ORPHA:157850
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Sacral dimple, Hypospadias, Corne... ORPHA:2556
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Abetalipoproteinemia
Osteopenia, Abnormality of retinal pigmentation, Kyphoscoliosis, Rod-cone dystrophy, Keratoconjun... ORPHA:14
Marfan Syndrome
Dental crowding, Genu recurvatum, Equinus calcaneus, Flexion contracture, Hypoplasia of the iris,... OMIM:154700
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Cataract ORPHA:79095
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Coloboma, Clinodactyly of the 5th finger, Conjunctival hyperemia ORPHA:2399
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Primary Fanconi Renotubular Syndrome
Bone pain, Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bic... ORPHA:3337
Blau Syndrome
Cataract, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Abnormal retinal vascul... ORPHA:90340
X-Linked Intellectual Disability, Armfield Type
Cataract, Abnormality of the elbow, Small hand, Cleft palate, Short foot, Downturned corners of m... ORPHA:85276
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Proximal renal tubular acidosis, Postaxial polydactyly OMIM:615824
Choanal Atresia
Tracheomalacia, Polydactyly, Craniosynostosis ORPHA:137914
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate, Short distal phalanx of finger OMIM:609166
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypospadias, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Colobom... OMIM:603457
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Cataract, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of... ORPHA:3042
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Anterior l... OMIM:308940
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... ORPHA:79098
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Keratoconjunctivitis sicca, Colitis, Steatorrhea ORPHA:309031
Cohen-Gibson Syndrome
Osteopenia, Joint laxity, Cataract, Coxa valga, Hypoplastic iliac wing, Long fingers, Accelerated... OMIM:617561
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Thauvin-Robinet-Faivre Syndrome
Bowing of the legs, Renal cyst, Coloboma, Large hands, Macroglossia, Retinal coloboma, Thick verm... OMIM:617107
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... ORPHA:2526
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Limb joint contracture, Pigmentary retinopathy OMIM:617282
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... ORPHA:436271
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Cataract, Swollen l... OMIM:256520
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Renal insufficiency, Ketonuria, Macular coloboma, Hemolytic-uremic syndrome, Opt... ORPHA:79282
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Hypospadias, Flexion contracture, Methylmalonic aciduria, Orofacial c... ORPHA:17
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Xeroderma Pigmentosum, Complementation Group B
Freckling, Cataract, Optic atrophy, Pigmentary retinopathy OMIM:610651
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts, Postaxial polydactyly OMIM:219730
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Delayed skeletal maturation, High palate, Scoliosis OMIM:617675
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Flexion contracture, Submucous cleft hard palate, Ankle clonus, Chordee, Talipes valgus OMIM:618891
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Coffin-Siris Syndrome 12
Joint laxity, Hypospadias, Celiac disease, Short thumb, Slender finger, Velopharyngeal insufficie... OMIM:619325
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteriorly placed anus, Hors... OMIM:306955
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Block vertebrae, Ectopic kidney, Cleft upper lip, Limbal dermoid, P... OMIM:164210
Loeys-Dietz Syndrome 2
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos... OMIM:610168
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Restrictive Dermopathy
Osteopenia, Ureteral duplication, Natal tooth, Multiple joint contractures, Hypospadias, Camptoda... ORPHA:1662
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Cleft lip, Laryngotracheomalacia, Pyloric stenosis, Tr... ORPHA:1199
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Intestinal malrotation, Delayed skeletal maturation, Rickets, Esophagea... OMIM:613658
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Optic atrophy, Pigmentary retinopathy, Fat malabsorption, Rod-cone dystrophy ORPHA:96180
Kearns-Sayre Syndrome
Renal tubular acidosis, Renal Fanconi syndrome, Pigmentary retinopathy OMIM:530000
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Double Outlet Right Ventricle
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth ORPHA:3426
Pearson Syndrome
Renal insufficiency, Cataract, Proteinuria, Lacticaciduria, Renal cyst, Steatorrhea, Corneal stro... ORPHA:699
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Myoglobinuria OMIM:609015
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Delayed skeletal maturation, Decreased... ORPHA:95494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Everte... OMIM:253280
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Scapular winging, Cataract, Intestinal pseudo-obstruction OMIM:607459
Melas
Proteinuria, Intestinal pseudo-obstruction, Optic atrophy, Focal segmental glomerulosclerosis, Pi... ORPHA:550
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Syndactyly, Renal insufficiency, Osteopenia, Postaxial polydactyly, Broad first metat... OMIM:619534
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Equinus calcaneus ORPHA:746
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Tetraamelia Syndrome 1
Cataract, Cleft upper lip, Cleft palate, Urethral atresia, Hypoplastic pelvis, Anal atresia OMIM:273395
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Submucous cleft hard palate, Neoplasm of the tongue, Joint hyperflexibil... ORPHA:3047
Tolchin-Le Caignec Syndrome
Arachnodactyly, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyly of the 5th f... OMIM:618971
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Osteomyelitis, Duodenal ulcer, Osteomalacia, Gastritis, Oral ulcer, Arthritis, J... OMIM:619381
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Lacticaciduria ORPHA:255210
Lipodystrophy, Familial Partial, Type 7
Cataract, Polyuria, Developmental cataract, Pigmentary retinopathy, Narrow mouth OMIM:606721
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Optic atrophy, Pigmentary retinopathy, Retinal degeneration, Hyperpigmentat... OMIM:234200

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hs2st1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hs2st1.

No publications found that use IMPC mice or data for Hs2st1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hs2st1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter