Not currently registered for phenotyping at IMPC

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

Gene Summary

heparan sulfate 2-O-sulfotransferase 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hs2st1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hs2st1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Microdontia, Macroglossia, Scoliosis, Thin upper lip vermilion, Genu v... OMIM:619194
Non-Specific Syndromic Intellectual Disability
Clinodactyly, Clinodactyly of hallux, Long philtrum, Astigmatism, Papilledema, Scoliosis, Hip dys... ORPHA:528084

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

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 verte... OMIM:613702
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Terminal Osseous Dysplasia
Brachydactyly, Abnormality of skin pigmentation, Toe clinodactyly, Camptodactyly of finger, Multi... OMIM:300244
Abruzzo-Erickson Syndrome
Brachydactyly, Chorioretinal coloboma, Toe syndactyly, Abnormal palate morphology, Microcornea, H... ORPHA:921
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Retinal detachment, Abnormal joint morphology, Delay... ORPHA:485
Kahrizi Syndrome
Thoracic kyphosis, Cataract, Thick lower lip vermilion, Knee flexion contracture, Elbow flexion c... OMIM:612713
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Intellectual Disability-Cataracts-Kyphosis Syndrome
Thoracic kyphosis, Cataract, Knee flexion contracture, Elbow flexion contracture, Iris coloboma, ... ORPHA:171860
Hypomelanosis Of Ito
Clinodactyly, Kyphosis, Radial deviation of finger, Cataract, Thick lower lip vermilion, Hand pol... OMIM:300337
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Hematuria, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacit... ORPHA:1473
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Retinal detachment, Short t... ORPHA:2712
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Ocular anterior segment dysgenesis, Peters anomaly, Coloboma, Iris c... OMIM:610023
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Single transverse palmar crease, Short 5th metaca... ORPHA:370010
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Hydronephrosis, Scoliosis, Scap... OMIM:305620
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Abnormality of the vertebral column, Stillbirth, Polydactyly, Upper... ORPHA:294975
Temtamy Syndrome
Brachydactyly, Chorioretinal coloboma, Genu varum, Abnormal palate morphology, Clinodactyly of th... ORPHA:1777
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
Humero-Radial Synostosis
Chorioretinal coloboma, Aplasia/Hypoplasia of the thumb, Limitation of joint mobility, Elbow disl... ORPHA:3265
Cat-Eye Syndrome
Chorioretinal coloboma, Hydronephrosis, Abnormal rib morphology, Anal atresia, Hip dysplasia, Iri... ORPHA:195
Keratoconus Posticus Circumscriptus
Brachydactyly, Cleft upper lip, Short neck, Clinodactyly of the 5th finger, Central posterior cor... OMIM:244600
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Abnormal sacrum morphology, Anal atresia, Scoliosis, Short middle phalanx of finge... ORPHA:1436
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract, Short thumb OMIM:274205
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Linear Verrucous Nevus Syndrome
Retinopathy, Toe syndactyly, Abnormal cornea morphology, Short metacarpal, Iris coloboma, Catarac... ORPHA:2611
Laurence-Moon Syndrome
Brachydactyly, Finger syndactyly, Cataract, Hand polydactyly, Hypoplasia of penis, Displacement o... ORPHA:2377
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- an... OMIM:601706
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Horseshoe ki... ORPHA:3320
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma OMIM:210350
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Horseshoe kidney, Long philtrum, Joint laxity, Cone-shaped epip... OMIM:157800
Liberfarb Syndrome
Retinal degeneration, Metaphyseal striations, Retinal pigment epithelial mottling, Scoliosis, Opt... OMIM:618889
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Distal Trisomy 18Q
High palate, Short neck, Deviation of finger, Progressive intervertebral space narrowing, Clinoda... ORPHA:1716
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Cleft upper lip, Scoliosis, Fused cervical vertebrae... OMIM:214300
Bresek Syndrome
Renal hypoplasia, Optic nerve hypoplasia, Aganglionic megacolon, Hemivertebrae, Scoliosis, Postax... ORPHA:85284
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Duane-Radial Ray Syndrome
Small thenar eminence, Sandal gap, Hydronephrosis, Short thumb, Scoliosis, Aplasia of metacarpal ... OMIM:607323
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Joint stiffness, Short palm, Short metacarpal, Mi... OMIM:151200
Renpenning Syndrome
Narrow mouth, Short philtrum, Abnormal thumb morphology, Joint stiffness, Iris coloboma, Cataract... ORPHA:3242
Frontometaphyseal Dysplasia
Limitation of knee mobility, Bifid uvula, Hydronephrosis, Astigmatism, Scoliosis, Metaphyseal wid... ORPHA:1826
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Clinodactyly, Cleft upper lip, Osteopenia, Micropenis, Ectrodactyly, Cleft palate, Tooth agenesis... OMIM:147950
Bardet-Biedl Syndrome 6
Renal cyst, Polydactyly, Rod-cone dystrophy, Retinal dystrophy, Hypospadias, Syndactyly OMIM:605231
Congenital Disorder Of Glycosylation, Type Id
High palate, Clinodactyly, Bifid uvula, Flexion contracture, Optic atrophy, Adducted thumb, Long ... OMIM:601110
Senior-Loken Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Cataract, Cone-shaped epiphysis, Chronic k... ORPHA:3156
Isolated Klippel-Feil Syndrome
Ectopic anus, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Short neck, A... ORPHA:2345
Pelvis-Shoulder Dysplasia
Hydronephrosis, Aplasia/Hypoplasia of the ribs, Retinal coloboma, Cleft palate, Hypoplastic pubic... ORPHA:2839
Acro-Renal-Ocular Syndrome
Abnormal thumb morphology, Radial club hand, Sandal gap, Short thumb, Coloboma, Vertebral fusion,... ORPHA:959
Trisomy 13
Long philtrum, Hydronephrosis, High, narrow palate, Abnormal rib morphology, Scoliosis, Cleft pal... ORPHA:3378
Verheij Syndrome
Clinodactyly, Renal cyst, Short neck, Long philtrum, Renal hypoplasia, Short 5th finger, Coloboma... OMIM:615583
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Cataract, Epiphyseal stippling, Death in infancy OMIM:614882
Bardet-Biedl Syndrome 5
Brachydactyly, Micropenis, Macular dystrophy, Polydactyly, Rod-cone dystrophy, Syndactyly OMIM:615983
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Abnormality of the ureter, Short neck, Kyphosis, Hyperlordosis, Abn... ORPHA:2522
Joint Laxity, Short Stature, And Myopia
Chorioretinal coloboma, Osteopenia, Short neck, Retinal detachment, Kyphoscoliosis, Talipes equin... OMIM:617662
Gorlin Syndrome
Brachydactyly, Vertebral wedging, Cataract, Carious teeth, Arachnodactyly, Scoliosis, Palmar pits... ORPHA:377
Curry-Jones Syndrome
Toe syndactyly, Craniosynostosis, Foot polydactyly, Hypopigmented skin patches, Finger syndactyly... ORPHA:1553
Arthrogryposis, Distal, Type 1C
Bifid uvula, Clinodactyly of the 5th finger, Scoliosis, Camptodactyly of toe, Cleft palate, Narro... OMIM:619110
Bardet-Biedl Syndrome 18
Brachydactyly, Cataract, Rod-cone dystrophy, Renal insufficiency, Retinal dystrophy OMIM:615995
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Bifid uvula, Bifid distal phalanx of the thumb, Hydronephrosis, Broad ... ORPHA:2669
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplastic s... OMIM:169550
Bardet-Biedl Syndrome 10
Renal cyst, Polydactyly, Rod-cone dystrophy, Renal insufficiency, Retinal dystrophy OMIM:615987
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Anal atresia, Scoliosis, Short middle phalanx of finger, Fused cervical ... OMIM:309620
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:615990
Kapur-Toriello Syndrome
Cleft upper lip, Single transverse palmar crease, Retinal coloboma, Short neck, Micropenis, Intes... OMIM:244300
2Q24 Microdeletion Syndrome
Short philtrum, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Short neck, Camptodac... ORPHA:1617
Microphthalmia, Lenz Type
Chorioretinal coloboma, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Ky... ORPHA:568
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone ... OMIM:118100
Wildervanck Syndrome
Pseudopapilledema, Short neck, Lens subluxation, Fused cervical vertebrae ORPHA:3456
Congenital Radioulnar Synostosis
Wrist pain, Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital h... ORPHA:3269
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Short palm, Increased bone mineral density,... ORPHA:90650
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Short neck, Hypoplasia of penis, Ocular anterior segment dysgenesis, Abnormality of the dentition... OMIM:601427
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Abnormal vitreous humor morphology, Bifid uvula, Cataract, Retinal detachm... OMIM:604841
Microphthalmia With Brain And Digit Anomalies
High palate, Chorioretinal coloboma, Finger syndactyly, Postaxial foot polydactyly, Sclerocornea,... ORPHA:139471
Temtamy Syndrome
Brachydactyly, Chorioretinal coloboma, Long philtrum, Iris coloboma, Short 2nd toe, Hypoplasia of... OMIM:218340
Multiple Epiphyseal Dysplasia, Beighton Type
Knee pain, Retinal thinning, Thoracic platyspondyly, Metaphyseal spurs, Low back pain, Arthralgia... ORPHA:166011
Branchio-Oculo-Facial Syndrome
Premature graying of hair, High palate, Non-midline cleft lip, Upper lip pit, Microcornea, Catara... ORPHA:1297
Microphthalmia, Isolated, With Coloboma 5
Oral cleft, Chorioretinal coloboma, Iris coloboma OMIM:611638
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, 11 pairs of ribs, Thoracic platyspondyly, Cleft pa... OMIM:108720
Orofaciodigital Syndrome Xviii
Accessory oral frenulum, Short philtrum, Brachydactyly, Cervical ribs, Single transverse palmar c... OMIM:617927
Multiple Pterygium Syndrome, Escobar Variant
Long philtrum, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis multiplex cong... OMIM:265000
Asymmetric Short Stature Syndrome
Dental crowding, Hemihypotrophy of lower limb, Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Otodental Syndrome
Long philtrum, Gingival overgrowth, Pulp calcification, Delayed eruption of teeth, Abnormal denta... ORPHA:2791
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Po... OMIM:614500
3C Syndrome
Abnormal hip bone morphology, Missing ribs, Hydronephrosis, High, narrow palate, Scoliosis, Death... ORPHA:7
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Long philtrum, Duplication of phalanx of hand, Clinodactyly of the 5th fing... ORPHA:508498
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Cofs Syndrome
Joint stiffness, Short neck, Abnormality of retinal pigmentation, Cataract, Everted lower lip ver... ORPHA:1466
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
High palate, Cervical C2/C3 vertebral fusion, Flexion contracture, Long philtrum, Short neck, Eve... OMIM:616549
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Preaxial polydactyly, Iris coloboma, Retinal coloboma ORPHA:2921
Mulibrey Nanism
Single transverse palmar crease, Corneal dystrophy, Enamel hypoplasia, Thickened cortex of long b... OMIM:253250
Narrow mouth, Finger syndactyly, Short neck, Non-midline cleft lip, Intestinal malrotation, Catar... ORPHA:3376
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Septo-optic dysplasia, Missing ribs, Optic atrophy, Microcornea, Cataract, Aplasia/... ORPHA:3301
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Missing ribs, Absent or minimally ossified vertebral bodies, Short neck, Narrow pelvis bone, Abno... ORPHA:66637
Bardet-Biedl Syndrome 9
Brachydactyly, Retinal degeneration, Postaxial foot polydactyly, Cataract, Astigmatism, Renal ins... OMIM:615986
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of finger, Short thumb, Hypospadias, High, narrow palate, Metatarsus adductus, Radiou... ORPHA:436003
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Toe syndactyly, Craniosynostosis, Short neck, Sclerocornea, Iris colob... ORPHA:251038
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Bardet-Biedl Syndrome 4
Brachydactyly, Renal cyst, Retinal degeneration, Polydactyly, Rod-cone dystrophy, Abnormality of ... OMIM:615982
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Long philtrum, Sandal gap, Clinodactyly of the 5th finger, Everted lower... ORPHA:251014
Anophthalmia Plus Syndrome
Deviation of finger, Non-midline cleft lip, Bilateral cleft lip and palate, Cleft palate, Vertebr... ORPHA:1104
Duane Retraction Syndrome
Central heterochromia, Everted lower lip vermilion, Hypoplastic iris stroma, Cleft palate, Brachy... ORPHA:233
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Retinal thinning, Metaphyseal spurs, Coloboma, Scoliosis, Narrow greater sciatic not... ORPHA:85167
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Fanconi Anemia, Complementation Group I
Absent thumb, Horseshoe kidney, Short neck, Renal hypoplasia, Astigmatism, Optic nerve hypoplasia... OMIM:609053
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Stromme Syndrome
Stillbirth, Sclerocornea, Intestinal malrotation, Microcornea, Cataract, Iris coloboma, Optic ner... OMIM:243605
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Brachydactyly, Abnormal palate morphology, Heterochromia iridis, Abnormality of retinal pigmentat... ORPHA:1390
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... ORPHA:93316
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Death in infancy, Vertebral fusion, Abnormality of the od... OMIM:277300
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula, Nephrotic syndrome, Short distal phalanx of the thumb, Bifid distal phalanx of the t... OMIM:256200
Metatropic Dysplasia
Abnormal cortical bone morphology, Joint stiffness, Kyphosis, Abnormal enchondral ossification, A... ORPHA:2635
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Vertebral segmentation defect, Sacral dimple, Ureteral atresia, Verteb... OMIM:618845
Abruzzo-Erickson Syndrome
Radioulnar synostosis, Coloboma, Hypospadias, Cleft palate OMIM:302905
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Abnormality of skin pigmentation OMIM:300719
Walker-Warburg Syndrome
Bifid uvula, Chorioretinal dysplasia, Metatarsus valgus, Optic atrophy, Abnormality of the optic ... ORPHA:899
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the thumb, Absen... OMIM:120400
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5... ORPHA:193
Tricho-Retino-Dento-Digital Syndrome
Brachydactyly, Short 5th metacarpal, Abnormality of retinal pigmentation, Oligodontia, Supernumer... ORPHA:1264
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Retinal dystrophy, Cataract OMIM:610156
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Joint hypermobility, Arachnodactyly, Pigmentary retinopathy, Narrow palm, Scoliosis OMIM:268050
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Distal Monosomy 13Q
Abnormal form of the vertebral bodies, Optic atrophy, Aplasia/Hypoplasia of the thumb, Abnormalit... ORPHA:1590
Hypopigmentation of the fundus, Chorioretinal degeneration, Pigmentary retinopathy, Retinal pigme... OMIM:303100
Cat-Eye Syndrome (Type I)
Iris coloboma, Anal atresia DECIPHER:42
Apert Syndrome
Bifid uvula, Rhizomelic arm shortening, Hydronephrosis, Cervical C5/C6 vertebrae fusion, Cleft pa... OMIM:101200
Eem Syndrome
Retinopathy, Finger syndactyly, Abnormality of retinal pigmentation, Microdontia, Carious teeth, ... ORPHA:1897
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Short distal phalanx of finger, Fused cervical vertebrae, Broad thu... OMIM:184460
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae, Hip dysplasia, Optic atrophy, Thick vermi... ORPHA:530983
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Iris coloboma, Median cleft lip OMIM:155145
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, Bifid uvula, 2-3 toe syndactyly, Postaxial foot polydac... OMIM:263540
Achondrogenesis Type 2
Pierre-Robin sequence, Abnormal vitreous humor morphology, Absent vertebral body mineralization, ... ORPHA:93296
Basal Cell Nevus Syndrome
Bifid ribs, Scoliosis, Vertebral fusion, Hemivertebrae, Cleft palate, Brachydactyly, Irregular os... OMIM:109400
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Long philtrum, Hypopigmentation of the fundus, Retinal detachment... ORPHA:163649
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Knee ... ORPHA:166016
Arthrogryposis, Distal, Type 5
Bilateral talipes equinovarus, High palate, Clinodactyly, Decreased palmar creases, Distal arthro... OMIM:108145
Focal Dermal Hypoplasia
Upper limb asymmetry, Open bite, Hydronephrosis, Multicystic kidney dysplasia, Scoliosis, Coarse ... ORPHA:2092
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, High palate, Clinodactyly, Bifid uvula, Long thumb,... OMIM:618658
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Cleft upper lip, Long philtrum, Short neck, Micropenis, Duplication of ph... OMIM:243310
Spondylodysplastic Ehlers-Danlos Syndrome
Generalized osteoporosis, Coronal cleft vertebrae, Long philtrum, Radial head subluxation, Optic ... ORPHA:536471
Aarskog-Scott Syndrome
Long philtrum, Clinodactyly of the 5th finger, Broad palm, Everted lower lip vermilion, Small han... ORPHA:915
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Clinodactyly of the 5th finger, Scoliosis, Vertebral fusion, ... OMIM:272460
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Iris coloboma, Aganglionic megacolon, Cleft palate, Hypospadias ORPHA:66629
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Hematuria, Cataract, Coloboma, Cleft palate OMIM:120433
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Steinfeld Syndrome
Abnormality of the vertebral column, Hypoplasia of the ulna, Bifid uvula, Phocomelia, Missing rib... OMIM:184705
Oculocerebrocutaneous Syndrome
Missing ribs, Finger syndactyly, Hypopigmented skin patches, Aplasia/Hypoplasia of the distal pha... ORPHA:1647
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly OMIM:615988
Crouzon Syndrome
Abnormal sacrum morphology, Hypopigmented skin patches, Optic atrophy, Multiple suture craniosyno... ORPHA:207
Zika Virus Disease
Absent foveal reflex, Arthritis, Lens subluxation, Conjunctivitis, Optic disc hypoplasia, Wrist s... ORPHA:448237
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Patellar dislocation, Tibial torsi... OMIM:274000
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Osteopenia, Abnormal form of the vertebral bodies, Arthritis, Carpal osteolysis, Osteo... ORPHA:371428
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Sacral dimple, Long phil... OMIM:616331
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Joubert Syndrome 16
Renal cyst, Polydactyly, Coloboma, Retinal dystrophy, Nephronophthisis OMIM:614465
Orofaciodigital Syndrome Type 5
Bifid uvula, High, narrow palate, Ectopic accessory finger-like appendage, Scoliosis, Accessory o... ORPHA:2919
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, High palate, Toe syndactyly, Foot polydactyly, Long philtrum, Joint hyperfl... ORPHA:250989
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Cataract, Death in infancy, Glossoptosis OMIM:614876
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Nizon-Isidor Syndrome
Narrow mouth, Short philtrum, Open mouth, Everted lower lip vermilion, Hypospadias, High, narrow ... OMIM:618872
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Abnormality of epiphysis morphology, Cataract, Astigmatism, Retinal detachment... ORPHA:250984
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Short philtrum, Anterior synechiae of the anterior chamber, Hypopigmentation of hair, Delayed eru... ORPHA:3214
Apert Syndrome
Ectopic anus, Toe syndactyly, Bifid uvula, Finger syndactyly, Delayed eruption of teeth, Optic at... ORPHA:87
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Polydactyly OMIM:615989
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, High palate, Nephronophthisis, Bifid uvula, Craniosynostosis, Renal cyst... OMIM:266920
Mosaic Trisomy 20
Clinodactyly, Vertebral segmentation defect, Horseshoe kidney, Kyphosis, Down-sloping shoulders, ... ORPHA:1724
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Multiple Synostoses Syndrome 2
Brachydactyly, Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion,... OMIM:610017
Kbg Syndrome
Cervical ribs, Single transverse palmar crease, Long philtrum, Short neck, Cutaneous syndactyly, ... ORPHA:2332
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Kyphosis, Cataract, Retinal detachment, Osteoarthritis, Beaki... OMIM:108300
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Abnormal hand morphology, Small hand, Cleft palate, Short foot OMIM:300261
Ramon Syndrome
Abnormal anterior chamber morphology, Delayed eruption of teeth, Abnormality of retinal pigmentat... ORPHA:3019
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Tracheoesophageal fistula, Esophageal atresia, Submucous cleft hard pa... OMIM:619227
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Long philtrum, Drooling, Sacral dimple, Sandal gap, Astigmatism, Hyperlordosis, Broad d... OMIM:615761
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Non-midline cleft lip ORPHA:1995
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Osteomalacia, Fibular bowing, Bone pain, Rickets, Bowing of the legs, N... OMIM:300554
Trisomy 18
Abnormal hip bone morphology, Hydronephrosis, Abnormal rib morphology, Cleft palate, Narrow mouth... ORPHA:3380
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Foot polydactyly, Aganglionic megacolon, Hand polydactyly, Scoliosis, Nep... ORPHA:2318
Congenital Hydrocephalus
Macular hypoplasia, Iris coloboma, Optic atrophy ORPHA:2185
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Cataract, Hyperlordosis, Anal atresia, Abnormality of femur ... ORPHA:2310
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Palmoplantar cutis laxa, Cleft palate, Spina bifida occulta, Abnormal digit morp... OMIM:268850
Bardet-Biedl Syndrome 7
Narrow mouth, Clinodactyly, 2-3 toe syndactyly, Polydactyly, Rod-cone dystrophy, Postaxial polyda... OMIM:615984
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, 11 pairs of ribs, Tracheoesophageal fistula, Hypospadias, Hypoplasia of penis, Esop... ORPHA:77298
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High palate, Hyp... OMIM:612350
Joubert Syndrome With Ocular Defect
Foot polydactyly, Retinal coloboma, Aganglionic megacolon, Hand polydactyly, Abnormal vertebral m... ORPHA:220493
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Abnormal bone ossification, Hypoplastic iliac win... ORPHA:93315
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Cleft palate OMIM:221950
Otopalatodigital Syndrome Type 2
Carpal synostosis, Hydronephrosis, Short thumb, Abnormal rib morphology, Scoliosis, Cleft palate,... ORPHA:90652
Orofaciodigital Syndrome Xvii
Clinodactyly, Central Y-shaped metacarpal, Short neck, Prominent metopic ridge, Micropenis, Renal... OMIM:617926
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal hip bone morphology, Genu varum, Premature loss of primary teeth, Recurrent fractures, N... ORPHA:93160
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Bifid uvula, Osteopenia, Long philtrum, Drooling, Abnormality of the dentition, Clin... ORPHA:576283
Pai Syndrome
Bifid uvula, Cleft palate, Abnormal oral frenulum morphology, Iris coloboma, Median cleft lip ORPHA:1993
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Knee pain, Spa... OMIM:600785
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Joint stiffness, Cataract, Retinal detachment, Short phalan... OMIM:127200
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Sjögren-Larsson Syndrome
Retinopathy, Joint stiffness, Kyphosis, Abnormality of retinal pigmentation, Scoliosis, Abnormal ... ORPHA:816
Arthrogryposis, Distal, Type 3
Bifid uvula, Distal arthrogryposis, Ulnar deviation of the hand or of fingers of the hand, Campto... OMIM:114300
Hajdu-Cheney Syndrome
Long philtrum, Open bite, Osteoporosis, Decreased skull ossification, Partial absence of toe, Sco... ORPHA:955
Bardet-Biedl Syndrome 17
Brachydactyly, Renal cyst, Stage 5 chronic kidney disease, Retinal degeneration, Mesoaxial polyda... OMIM:615994
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Short metacarpal, Cataract, Short thumb, Delayed skeletal maturation ORPHA:2489
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Hypospadias, Adducted thumb, Bilateral cleft lip and palate, Thin... OMIM:618874
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Cataract, Carious teeth, Osteoporosis, Increased... OMIM:136300
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Short thumb, Osteoporosis, Scoliosis, Abnormality of the mou... ORPHA:280
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Arachnodacty... ORPHA:171844
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Lowry-Wood Syndrome
Brachydactyly, Irregular epiphyses, Joint stiffness, Abnormality of epiphysis morphology, Disloca... ORPHA:1824
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Narrow mouth, Brachydactyly, Coxa valga, Asteroid hyalosis, Retinal thinning, Cataract, Short pha... OMIM:132450
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Broad hallux, High, narrow palate, Atlantoaxial abnormality, Hypermobility of interphal... ORPHA:3433
Brachydactyly, Cataract, Lumbar hyperlordosis, Scoliosis, Cleft palate, Finger clinodactyly, Camp... ORPHA:391474
Kbg Syndrome
Clinodactyly, Cervical ribs, Single transverse palmar crease, Long philtrum, Thoracic kyphosis, O... OMIM:148050
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Abnormal cornea morphology, Finger syndactyly, P... ORPHA:65759
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retinal pigmentation, C... OMIM:251270
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Abnormal macular morphology, H... ORPHA:97341
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... OMIM:178110
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Flaring of rib cage, Osteolysis, Fused cervical vertebrae... OMIM:612852
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Microdontia, Short uvula, Polycystic kidney dysplasia, Micromelia, Cleft palate, Brachydactyly, H... OMIM:614091
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Hand polydactyly, Scoliosis, Cleft palate, Renal insufficiency, Oral cleft... ORPHA:220497
Frontometaphyseal Dysplasia 2
Pierre-Robin sequence, High palate, Short philtrum, Bifid uvula, Dislocated radial head, Short me... OMIM:617137
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Long philtrum, Elbow flexion contracture, Second metatarsal posteriorly placed, Rocke... OMIM:214150
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Bifid uvula, Sandal gap, Flared femoral... ORPHA:1427
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Optic atrophy, Astigmatism, Hypospadias, Peters anomaly, Scoliosis, Vesic... ORPHA:494344
Donnai-Barrow Syndrome
Proteinuria, Intestinal malrotation, Retinal detachment, Retinal dystrophy, Iris coloboma ORPHA:2143
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Clinodactyly of the 5th finger, Co... ORPHA:363417
Joubert Syndrome 18
Horseshoe kidney, Joint laxity, Polydactyly, Kyphoscoliosis, Camptodactyly OMIM:614815
Frontofacionasal Dysplasia
Non-midline cleft lip, Microcornea, Cataract, Iris coloboma, Limbal dermoid, Brushfield spots, Cl... ORPHA:1791
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Cli... ORPHA:2916
Baraitser-Winter Cerebrofrontofacial Syndrome
Heterochromia iridis, Long philtrum, Joint stiffness, Short neck, Prominent metopic ridge, Microc... ORPHA:2995
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Sandal gap, Clinodactyly of the 5th finger, High, narrow palate ORPHA:2515
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Ankle clonus, Bifid uvula, Hyporeflective spaces on macular OCT, Retinal pigment epithelial mottl... ORPHA:506353
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Kapur-Toriello Syndrome
Short neck, Retinal coloboma, Intestinal malrotation, Hypoplasia of penis, Oral cleft, Iris coloboma ORPHA:2328
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Bone pain, Fibular bowing, Rickets, Bowing of the legs, Bulging of the ... OMIM:241530
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Hypoplasia of penis, Pigmentary retinopathy OMIM:275400
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Long philtrum, Abnormality of epiphysis morphology, Cataract,... ORPHA:90653
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Abnormal rib morphology, Vertebral fusion, Abnormality of the odon... OMIM:613686
Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Carnosinuria OMIM:236130
Triple A Syndrome
Palmoplantar keratoderma, Abnormality of the hypothenar eminence, Optic atrophy, Generalized hype... ORPHA:869
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Microphthalmia, Isolated, With Coloboma 9
Long philtrum, Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis,... OMIM:615145
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Hypoplasia of proximal radius, Short neck, Long philtrum, Cleft soft pal... ORPHA:2756
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Donnai-Barrow Syndrome
Hypoplasia of the iris, Short sternum, Intestinal malrotation, Cataract, Retinal detachment, Prot... OMIM:222448
Koolen-De Vries Syndrome
Hydronephrosis, Microdontia, Everted lower lip vermilion, High, narrow palate, Scoliosis, Vertebr... ORPHA:96169
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Dent Disease 1
Glycosuria, Osteomalacia, Microscopic hematuria, Fibular bowing, Bone pain, Stage 5 chronic kidne... OMIM:300009
Au-Kline Syndrome
High palate, Craniosynostosis, Hip dysplasia, Sacral dimple, Open mouth, Oligodontia, Overlapping... OMIM:616580
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis, Cataract, Hip dislocation, Arthrogryposis multiplex congenita OMIM:212540
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Abnormality of retinal pigmentation, Submucous cleft hard palate, Camptodactyly of f... ORPHA:2521
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Oligodontia, Microdontia, Supe... OMIM:191482
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Microphthalmia, Isolated 4
Coloboma, Postaxial polydactyly OMIM:613094
Abnormality of retinal pigmentation, Ankle clonus OMIM:145290
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Proteinuria, Corneal crystals, Retinal pigment epithelial mottling, Stage 5 chronic ... OMIM:219900
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Ectopic kidney, Foot polydactyly, Short palm, Tracheomalacia, Tracheoesop... ORPHA:268249
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short palm, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:85172
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Hallermann-Streiff Syndrome
Tracheomalacia, Everted lower lip vermilion, High, narrow palate, Scoliosis, Metaphyseal widening... OMIM:234100
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Cataract... OMIM:611040
Lateral Meningocele Syndrome
High palate, Wormian bones, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Prominen... ORPHA:2789
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract, Split hand, Split foot, Hand monodactyly OMIM:183800
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment, C... ORPHA:90654
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Cataract, Iris coloboma ORPHA:79326
Juvenile Paget Disease
Bowing of the long bones, Cranial hyperostosis, Recurrent fractures, Abnormality of retinal pigme... ORPHA:2801
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Hyperthreoninur... OMIM:204000
Focal Dermal Hypoplasia
Foot polydactyly, Hydronephrosis, Scoliosis, Cleft palate, Brachydactyly, Cleft upper lip, Linear... OMIM:305600
Bardet-Biedl Syndrome 19
Rod-cone dystrophy, Renal insufficiency, Polydactyly OMIM:615996
Nephronophthisis 15
Nephronophthisis, Retinal degeneration, Polydactyly OMIM:614845
Microform Holoprosencephaly
Short philtrum, Solitary median maxillary central incisor, Iris coloboma, Tented upper lip vermil... ORPHA:280200
Mend Syndrome
High palate, Kyphosis, 2-3 toe syndactyly, Overlapping fingers, Cataract, Polydactyly, Long finge... OMIM:300960
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Cleft upper lip, Brachydactyl... OMIM:277170
Coffin-Lowry Syndrome
Narrow iliac wing, Everted lower lip vermilion, Widely spaced teeth, Tapered finger, Scoliosis, L... ORPHA:192
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Scoliosis, Hammertoe OMIM:619090
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumbar hyperlordos... ORPHA:313892
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Flexion contracture, Thin ribs, Increased susceptibility to fractures, Joint dis... OMIM:312150
Mesomelia-Synostoses Syndrome
Long philtrum, Clinodactyly of the 5th finger, Hydronephrosis, High, narrow palate, Micromelia, A... ORPHA:2496
Peroxisome Biogenesis Disorder 7A (Zellweger)
High palate, Long philtrum, Epiphyseal stippling, Cataract, Death in infancy, Talipes equinovarus OMIM:614872
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Abnormal form of the vertebral bodies, Sacral dimple, Tarsal synostosis, Posteri... ORPHA:2064
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Nephrolithiasis, Hematuria, Abnormality of retinal pigmentation, Macular ... ORPHA:2196
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Median cleft palate, Cataract, Pectoral muscle hypoplasia/aplasia, W... OMIM:136760
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Cataract, Aplasia/Hypoplasia of the lens, Anal atresia, Hypoplasia of... ORPHA:1381
Jacobsen Syndrome
Missing ribs, Long philtrum, Hydronephrosis, Multicystic kidney dysplasia, Scoliosis, Short toe, ... ORPHA:2308
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract, Micropenis ORPHA:75858
1Q21.1 Microduplication Syndrome
Cataract, Arthrogryposis multiplex congenita, Talipes equinovarus, Hip dysplasia, Hypospadias, Hi... ORPHA:250994
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly OMIM:612913
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Scoliosis, Flexion contractu... OMIM:609033
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Shoulder girdle muscle weakness, Cataract, Proximal upper limb amyotrophy, Decreased movement ran... OMIM:609115
Smith-Lemli-Opitz Syndrome
Long philtrum, Hydronephrosis, Abnormal rib morphology, Multicystic kidney dysplasia, Scoliosis, ... ORPHA:818
Vici Syndrome
High palate, Renal tubular acidosis, Abnormal macular morphology, Joint stiffness, Ureteral atres... ORPHA:1493
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bone pain, Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondral junction, En... OMIM:264700
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Temple Syndrome
Short philtrum, High palate, Clinodactyly, Bifid uvula, Flexion contracture, Joint hypermobility,... OMIM:616222
White-Sutton Syndrome
Brachydactyly, Short philtrum, High palate, Bifid uvula, Wormian bones, Short neck, Iris coloboma... OMIM:616364
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Bulgi... OMIM:600081
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Bowing of the long bones, Hypoplastic inferior ilia, Short neck, Kyphosis, Open bite, Craniofacia... ORPHA:61
Joubert Syndrome 22
Postaxial foot polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Retinal dysplasia, Coloboma, Po... OMIM:615665
Joubert Syndrome
Foot polydactyly, Abnormal form of the vertebral bodies, Aganglionic megacolon, Hand polydactyly,... ORPHA:475
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Long philtrum, Hydronephrosis, Bifid distal phalanx of toe, Macroglos... OMIM:268310
Moebius Syndrome
Brachydactyly, High palate, Clinodactyly, Bifid uvula, Abnormality of pelvic girdle bone morpholo... OMIM:157900
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Micropenis, Pigmentary retinopathy... ORPHA:370968
Biemond Syndrome Type 2
Coloboma, Preaxial polydactyly, Hypospadias ORPHA:141333
Cat Eye Syndrome
Chorioretinal coloboma, Absent radius, Intestinal malrotation, Anal atresia, Cleft palate, Iris c... OMIM:115470
Hypophosphatasia, Adult
Premature loss of primary teeth, Recurrent fractures, Carious teeth, Increased susceptibility to ... OMIM:146300
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Cataract, Preaxial polydactyly, Abnormal vertebral morphology,... ORPHA:64754
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Brachydactyly, Kyphosis, Abnormality of retinal pigmentation, Cataract, Hyperlordosis, Short toe,... ORPHA:3085
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Spondyloepiphyseal Dysplasia Congenita
Limitation of knee mobility, Bifid uvula, Retinal detachment, Delayed calcaneal ossification, Sco... OMIM:183900
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Vertebral segmentation defect, Hypoplasia of the ulna, Foot polydactyly, Phocomelia, Missing ribs... ORPHA:3186
Cenani-Lenz Syndrome
Short thumb, High, narrow palate, Abnormal rib morphology, Micromelia, Scoliosis, Hip dislocation... ORPHA:3258
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Short neck, Scoliosis, Cleft palate, Optic disc coloboma, Iris coloboma ORPHA:52055
Dubowitz Syndrome
High palate, Agenesis of permanent teeth, Sacral dimple, Delayed eruption of teeth, Velopharyngea... OMIM:223370
8P11.2 Deletion Syndrome
High palate, Supernumerary ribs, Sacral dimple, Microcornea, Hypoplasia of penis, Retinal dystrop... ORPHA:251066
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Proteinuria, Abnormality of retinal pigmentation, Cataract, Sandal ga... ORPHA:2715
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, Single transve... OMIM:617866
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Sturge-Weber Syndrome
Heterochromia iridis, Corneal dystrophy, Optic atrophy, Abnormal retinal vascular morphology, Ret... ORPHA:3205
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Joint laxity, Cataract, Genu recurvatum, Hip dislocation OMIM:608763
Bardet-Biedl Syndrome 3
Brachydactyly, Renal hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy, Postaxial polydactyly OMIM:600151
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... OMIM:613091
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma OMIM:251505
Caudal Regression Syndrome
Ectopic kidney, Abnormality of pelvic girdle bone morphology, Missing ribs, Joint stiffness, Abno... ORPHA:3027
Spondylocostal Dysostosis 5
Missing ribs, Supernumerary ribs, Short neck, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
X-Linked Hypophosphatemia
Genu varum, Upper limb metaphyseal widening, Rachitic rosary, Abnormal dentin morphology, Flatten... ORPHA:89936
Thakker-Donnai Syndrome
Narrow mouth, Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Short neck, Hydronephrosis, ... ORPHA:1780
Peroxisome Biogenesis Disorder 2A (Zellweger)
Single transverse palmar crease, Cataract, Optic nerve dysplasia, Metatarsus adductus, Polycystic... OMIM:214110
Wolf-Hirschhorn Syndrome
Short thumb, Scoliosis, Vertebral fusion, Hip dysplasia, Cleft palate, Hip dislocation, Rib fusio... OMIM:194190
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis, Coloboma, Oral cleft ORPHA:324416
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Small hypothenar eminence, Bifid uvula, Contracture of the proximal interphalange... ORPHA:2872
Dent Disease
Glycosuria, Proteinuria, Enlarged epiphyses, Osteomalacia, Bone pain, Rickets, Bowing of the legs... ORPHA:1652
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged joints, Short neck, Tracheomalacia, Limitation of joint mobilit... OMIM:156550
Ring Chromosome 14 Syndrome
High palate, Short neck, Pigmentary retinopathy OMIM:616606
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Hypoplasia of penis, Keratoconus, Optic atrophy, A... ORPHA:791
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Joubert Syndrome 15
Retinopathy, Micropenis, Polydactyly, Retinal dystrophy, Nephronophthisis OMIM:614464
Amish Lethal Microcephaly
Optic atrophy, Cleft soft palate, Osteoporosis, Decreased skull ossification, Organic aciduria, D... ORPHA:99742
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Optic atrophy, Retinal vascular tortuosity, Cleft palate, Ankle clonus OMIM:618768
Microphthalmia, Syndromic 2
Bifid uvula, Developmental cataract, Long philtrum, Hammertoe, Radiculomegaly, Sandal gap, Retina... OMIM:300166
Nail-Patella Syndrome
Absent distal interphalangeal creases, Proteinuria, Clinodactyly of the 5th finger, Biceps aplasi... OMIM:161200
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Short neck, Abnormality of epiphysis morphology, Rhizom... ORPHA:93267
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Bone pain, Abnormality of the dentition, Rickets, Renal p... OMIM:193100
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Orofaciodigital Syndrome V
High palate, Bifid uvula, Horseshoe kidney, Postaxial foot polydactyly, Lobulated tongue, Hypodon... OMIM:174300
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Single transverse palmar crease, Renal cortical microcysts, Epiphyseal stippling, Cat... OMIM:614866
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Retinal degeneration, Short ribs, Polydactyly, Scoliosis, Short long bone, Stage 5... OMIM:613819
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Cleft palate, Median cleft lip, Syndactyly OMIM:300484
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Increased susceptibility to fractures, Joint dislocation, Abnorma... OMIM:253290
Desbuquois Dysplasia 2
Genu varum, Bifid uvula, Long philtrum, Radial head subluxation, Metaphyseal widening, Broad thum... OMIM:615777
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Desmoid Tumor
Abnormality of retinal pigmentation, Hydronephrosis, Malabsorption, Osteolysis, Intestinal polypo... ORPHA:873
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Nephrocalcinosis, Postaxial polydactyly, Rod-cone dystrophy, Shor... OMIM:615633
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Koolen-De Vries Syndrome
Hydronephrosis, Everted lower lip vermilion, Widely spaced teeth, Scoliosis, Vertebral fusion, Ir... OMIM:610443
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Abnormality of pelvic girdle bone morphology, Flexion contracture, Osteopenia, Rhizo... OMIM:222765
Joubert Syndrome 20
Retinopathy, Renal cyst, Abnormal retinal morphology, Postaxial polydactyly, Syndactyly OMIM:614970
Microcornea, Abnormal pupil morphology, Cleft palate, Iris coloboma, Median cleft lip ORPHA:3374
Microcephalic Primordial Dwarfism, Toriello Type
Clinodactyly, Short palm, Enamel hypoplasia, Cataract, Short middle phalanx of toe, Short proxima... OMIM:251190
Adnp Syndrome
Abnormality of toe, Brachydactyly, Single transverse palmar crease, Abnormality of finger, 2-3 to... ORPHA:404448
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Syndactyly, Cleft palate, Hallux valgus, Camptodactyly, Split hand, Spli... OMIM:603543
Ring Chromosome 21 Syndrome
Clinodactyly, Multiple cafe-au-lait spots, Narrow palm, Fused thoracic vertebrae, Scoliosis, Smal... ORPHA:1445
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Hypodontia, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:3201
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Joubert Syndrome With Hepatic Defect
Chorioretinal coloboma, Multicystic kidney dysplasia, Scoliosis, Postaxial hand polydactyly, Neph... ORPHA:1454
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Failure of eruption of permanent teeth, Cataract, Iris coloboma, Hypoplasia of penis... ORPHA:2250
Cree Mental Retardation Syndrome
Cleft soft palate, Rocker bottom foot, Coloboma, Aplasia/Hypoplasia of the ribs, Cutaneous finger... OMIM:606851
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Narrow mouth, Brachydactyly, Long philtrum, 2-3 toe syndactyly, Astigmatism, Tapered finger, Cone... OMIM:618659
Jacobsen Syndrome
Brachydactyly, Chorioretinal coloboma, Missing ribs, Flexion contracture, Short neck, Optic atrop... OMIM:147791
Papillorenal Syndrome
Renal cyst, Stage 5 chronic kidney disease, Horseshoe kidney, Nephrolithiasis, Morning glory anom... OMIM:120330
Witteveen-Kolk Syndrome
Clinodactyly, Abnormal thumb morphology, Long philtrum, Radial deviation of finger, Widely spaced... OMIM:613406
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus,... ORPHA:55
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Rhizomelic Chondrodysplasia Punctata
Abnormality of epiphysis morphology, Rhizomelia, Epiphyseal stippling, Cataract, Scoliosis, Abnor... ORPHA:177
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Micropenis, Open mouth, Hyperlordosis, Macroglossia, Pigmentary retinopathy,... OMIM:613156
Townes-Brocks Syndrome
Clinodactyly of the 5th finger, Abnormal rib morphology, Rectovaginal fistula, Toe clinodactyly, ... ORPHA:857
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Intellectual Developmental Disorder, X-Linked 90
Enuresis, High palate, Bifid uvula OMIM:300850
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Joint stiffness, Abnormality of retinal pigmentation, Cataract, Corneal op... ORPHA:585
Meckel Syndrome, Type 8
Cleft upper lip, Short neck, Polydactyly, Postaxial hand polydactyly, Talipes equinovarus, Cleft ... OMIM:613885
Micro Syndrome
Short philtrum, High palate, Joint stiffness, Kyphosis, Optic atrophy, Microcornea, Cataract, Abn... ORPHA:2510
Baralle-Macken Syndrome
Kyphosis, Cataract, Tapered finger, High, narrow palate, Urinary incontinence, Cafe-au-lait spot OMIM:619255
Treacher-Collins Syndrome
Narrow mouth, High palate, Rectovaginal fistula, Abnormality of the vertebral column, Cleft upper... ORPHA:861
Orofaciodigital Syndrome Xv
Lobulated tongue, Broad hallux, Hydronephrosis, Postaxial polydactyly OMIM:617127
Senior-Loken Syndrome 9
Nephronophthisis, Hypoplasia of the femoral head, Tubulointerstitial nephritis, Polydactyly, Rod-... OMIM:616629
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Delayed eruption of teeth, Increased bone mineral density, Cataract, Hyperlordosis, ... ORPHA:2780
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Kyphosis, Cubitus valgus, Joint hyperflexibility ORPHA:1875
Cri-Du-Chat Syndrome
Premature graying of hair, High palate, Short philtrum, Bifid uvula, Single transverse palmar cre... OMIM:123450
Meckel Syndrome, Type 10
Renal cyst, Sacral dimple, Micropenis, Cleft palate, Postaxial polydactyly, Hypospadias OMIM:614175
Microphthalmia, Syndromic 5
Micropenis, Microcornea, Cataract, Optic nerve hypoplasia, Joint laxity, Coloboma, Retinal dystro... OMIM:610125
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Abnormal palate morphology, Bilateral single transverse palmar creases, Hypodontia, Tapered finge... ORPHA:1236
Mucopolysaccharidosis, Type Ix
Popliteal synovial cyst, Bifid uvula, Submucous cleft hard palate, Chondrocalcinosis, Acetabular ... OMIM:601492
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Long philtrum, Phocomelia, Fibular hypoplasia, Absent radius, A... OMIM:171480
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of toe, Osteopenia, Recurrent fractures, Horseshoe kidney, Hypopigmentation of the sk... OMIM:163200
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Bifid uvula, Short neck, Thoracolumbar scoliosis, Optic disc coloboma, Iris coloboma OMIM:300472
Codas Syndrome
Brachydactyly, Coronal cleft vertebrae, Abnormality of pelvic girdle bone morphology, Delayed eru... ORPHA:1458
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Macroglossia, Scoliosis, Vertebral fusion, ... OMIM:606612
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Genu varum, Enlargement of the costochondral junction, Enlargement of ... ORPHA:289157
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Nephrolithiasis, Hypercalciuria, Hypophosphatemic rickets, Rachitic rosary, H... ORPHA:157215
Neuroocular Syndrome
Clinodactyly of the 5th finger, Widely spaced teeth, Blue irides, Tapered finger, Short uvula, Ti... OMIM:619539
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Aplasia/Hypoplasia of the macula, Retinal p... ORPHA:827
15Q24 Microdeletion Syndrome
Narrow mouth, Abnormality of toe, Abnormal thumb morphology, Abnormal palate morphology, Clinodac... ORPHA:94065
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Osteomalacia, Spinal c... ORPHA:289176
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Peters-Plus Syndrome
Long philtrum, Clinodactyly of the 5th finger, Broad palm, Widely spaced teeth, Hydronephrosis, E... OMIM:261540
Harrod Syndrome
Narrow mouth, High palate, Abnormality of pelvic girdle bone morphology, Kyphosis, Hypopigmented ... ORPHA:2115
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Short neck, Gingival fibromatosis, Hypodontia, Supernumerary tooth, Cat... ORPHA:3473
Retinitis Pigmentosa 47
Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy OMIM:613758
Myhre Syndrome
Bifid uvula, Abnormal penis morphology, Abnormal rib morphology, Gingival cleft, Cleft palate, Na... ORPHA:2588
Proteinuria, Scoliosis, Intestinal atresia, Median cleft lip and palate, Brachydactyly, Retinopat... ORPHA:2162
Microphthalmia, Syndromic 3
Missing ribs, Supernumerary ribs, Vertebral hypoplasia, Sclerocornea, Micropenis, Cataract, Optic... OMIM:206900
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Upper limb asymmetry, Delayed closure of the anterior fontanelle, Clinodactyly of th... ORPHA:231140
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Abnormal tongue morphology, Hydronephrosis, Polydactyly, Scoliosis, Vertebral s... ORPHA:531151
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal bone ossific... ORPHA:175
Brachydactyly, Short neck, Delayed eruption of teeth, Enamel hypoplasia, Short metacarpal, Catara... OMIM:612463
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Urinary incontinence, Scoliosis, Fused cervical vertebrae, Arefl... ORPHA:268882
Cohen Syndrome
Bull's eye maculopathy, Short philtrum, Thoracic scoliosis, Single transverse palmar crease, Shor... OMIM:216550
Microphthalmia, Syndromic 1
Clinodactyly, Syndactyly, High, narrow palate, Rectal prolapse, Scoliosis, Tooth malposition, Hig... OMIM:309800
Orofaciodigital Syndrome Iv
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Foot polydactyly, Brachydacty... OMIM:258860
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Flexion contracture, Optic atrophy OMIM:613154
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Recurrent fractures, Cataract, Hypoplasia of penis, Abnormal ri... ORPHA:2772
Meckel Syndrome, Type 1
Bowing of the long bones, Clinodactyly, Abnormality of the ureter, Cleft upper lip, Foot polydact... OMIM:249000
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormality of the dentition, Cataract, Aminoaciduria ORPHA:2278
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Bulgi... OMIM:277440
Spondylo-Ocular Syndrome
Thoracic kyphosis, Short neck, Long philtrum, Cataract, Retinal detachment, Osteoporosis, Aplasia... ORPHA:85194
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
White-Sutton Syndrome
Narrow mouth, Short philtrum, High palate, Short neck, Optic atrophy, Open mouth, Astigmatism, Vi... ORPHA:468678
Joubert Syndrome 10
Postaxial polydactyly, Rod-cone dystrophy, Deep philtrum, Thick vermilion border OMIM:300804
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, High palate, Abnormal distal phalanx morphology of finger, Cataract, Everted lowe... ORPHA:1387
Aicardi Syndrome
Missing ribs, Block vertebrae, Retinal detachment, Bifid ribs, Scoliosis, Small hand, Hip dysplas... ORPHA:50
Lowry-Wood Syndrome
Brachydactyly, Irregular epiphyses, Shallow acetabular fossae, Clinodactyly of the 5th finger, Sq... OMIM:226960
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly, Aplasia... ORPHA:2378
Bardet-Biedl Syndrome 22
Macular hypopigmentation, Rod-cone dystrophy, Postaxial foot polydactyly, Polydactyly OMIM:617119
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, High palate, Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Horse... ORPHA:444077
Tarp Syndrome
Tongue nodules, High palate, Clinodactyly, Single transverse palmar crease, Horseshoe kidney, Opt... OMIM:311900
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Joint stiffness, Sclerocornea, Microcornea, Cataract, Corneal... ORPHA:2557
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Bardet-Biedl Syndrome 1
Brachydactyly, High palate, Retinal degeneration, Foot polydactyly, Micropenis, Radial deviation ... OMIM:209900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of toe, Unilateral renal agenesis, Chordee, Astigmatism, Widely spaced teeth, Retinal... ORPHA:268261
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Microcornea, Macular atrophy OMIM:602499
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Brachydactyly, Proteinuria, Rhizomelia, Renal hypoplasia, Cataract, Glomerulonephritis, Acetabula... OMIM:614376
Oculocerebral Hypopigmentation Syndrome Of Preus
High palate, Cataract, Microdontia, Widely spaced teeth, High, narrow palate, Generalized hypopig... OMIM:257790
Bardet-Biedl Syndrome 8
Rod-cone dystrophy, Hypospadias, Polydactyly OMIM:615985
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Osteopeni... OMIM:601813
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
20P13 Microdeletion Syndrome
Brachydactyly, Retinopathy, Clinodactyly, Finger syndactyly, Microcornea, Tented upper lip vermil... ORPHA:313781
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Midline n... OMIM:129540
Lenz-Majewski Hyperostotic Dwarfism
Bifid uvula, Abnormal penis morphology, High, narrow palate, Scoliosis, Cleft palate, Brachydacty... ORPHA:2658
Joubert Syndrome 14
Short philtrum, Renal cyst, Morning glory anomaly, Open mouth, Tented upper lip vermilion, Colobo... OMIM:614424
Joubert Syndrome 23
Coloboma, Polydactyly OMIM:616490
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Macroglossia, Scoliosis, Vertebral fusion, ... OMIM:607155
Cerebrooculofacioskeletal Syndrome 2