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
Broad distal phalanx of finger, Kyphosis, Microdontia, Wide mouth, Anterior polar cataract, Thin ... OMIM:619194

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

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretinal coloboma, Thoraci... OMIM:613702
Kniest Dysplasia
Enlarged metaphyses, Aplasia/Hypoplasia of the lens, Short long bone, Lattice retinal degeneratio... ORPHA:485
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Hypospadias, Microcornea, Coloboma, Cleft palate, Short toe, Choriore... ORPHA:921
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Camptodactyly... OMIM:300244
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Cataract, Iris coloboma OMIM:120433
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Hypomelanosis Of Ito
Radial deviation of finger, Thick lower lip vermilion, Scoliosis, Kyphosis, Hand polydactyly, Mac... OMIM:300337
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Bilateral cleft palate, Corneal opacity, Posterior ... ORPHA:1473
Kahrizi Syndrome
Thoracic kyphosis, Thick vermilion border, Knee flexion contracture, Cataract, Elbow contracture,... OMIM:612713
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte... OMIM:618469
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Coloboma, Syndactyly, Brachydactyly, Peters anomaly, Clinodac... OMIM:610023
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Flexion contracture of the 2nd toe, Flexion contractur... ORPHA:2712
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Temtamy Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Clinodactyly of the 5th finger, Short toe,... ORPHA:1777
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormality of the vertebral column, Upper... ORPHA:294975
Cat-Eye Syndrome
Anal atresia, Abnormal rib morphology, Hydronephrosis, Chorioretinal coloboma, Hip dysplasia, Iri... ORPHA:195
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Clinodactyly of the 5th finger, Keratoconus, Limited elbow ext... OMIM:244600
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Limitation of joint... ORPHA:3265
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Anal atresia, Short middle phalanx of finger, Thoracic hemiv... ORPHA:1436
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma, Short thumb OMIM:274205
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly, Hand polydact... ORPHA:2377
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Chorioretinal coloboma, Patchy hypo- an... OMIM:601706
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sco... ORPHA:88630
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Reduced bone mineral density, Genu recurvatum, Scoliosis, Short ... ORPHA:2611
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma OMIM:210350
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Cleft palate, Cataract, Short foot, Small hand OMIM:300261
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Aplasia... ORPHA:3320
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl... OMIM:607323
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Genu recurvatum, Microcornea, ... OMIM:151200
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Widely spaced teeth, Clinodactyly of the 5th finger, Sh... OMIM:135100
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Joint Laxity, Short Stature, And Myopia
Kyphoscoliosis, Multiple joint dislocation, Retinal detachment, Chorioretinal coloboma, Joint hyp... OMIM:617662
Distal Duplication 18Q
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypoplasia of penis, ... ORPHA:1716
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin creases over affecte... OMIM:618167
Renpenning Syndrome
Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Hypospadias, Shor... ORPHA:3242
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Vesicoureteral reflux, P... ORPHA:85284
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra... ORPHA:1826
Microphthalmia, Syndromic 13
Kyphoscoliosis, Microcornea, Widely-spaced incisors, Chorioretinal coloboma, Iris coloboma OMIM:300915
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Microphthalmia/Coloboma 10
Optic pit, Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Cleft upper lip, Cleft pala... OMIM:214300
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H... ORPHA:2839
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, High palate, Death in infancy, Epiphyseal stippling OMIM:614882
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,... OMIM:618889
Senior-Loken Syndrome
Nephronophthisis, Retinal dystrophy, Abnormality of bone mineral density, Abnormality of retinal ... ORPHA:3156
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Ectrodactyly, Tooth agenesis, Cleft upper lip, Cleft palate, Micropenis, Clinodactyly... OMIM:147950
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, Syndactyly, Brachydactyly, Rod-cone dystrophy, Micropenis OMIM:615983
Acro-Renal-Ocular Syndrome
Sandal gap, Short humerus, Hypoplasia of the ulna, Aganglionic megacolon, Crossed fused renal ect... ORPHA:959
Bardet-Biedl Syndrome 10
Polydactyly, Retinal dystrophy, Renal insufficiency, Renal cyst, Rod-cone dystrophy OMIM:615987
Trisomy 13
Bilateral single transverse palmar creases, Kyphosis, Multiple renal cysts, Long philtrum, Optic ... ORPHA:3378
Curry-Jones Syndrome
Hypopigmented skin patches, Finger syndactyly, Foot polydactyly, Broad thumb, Intestinal malrotat... ORPHA:1553
Bardet-Biedl Syndrome 18
Retinal dystrophy, Brachydactyly, Cataract, Rod-cone dystrophy, Stage 5 chronic kidney disease, R... OMIM:615995
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hypospadias, Abnormal hip bone morphology, Hyperlordosis, Kyphosis, Abn... ORPHA:2522
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy... OMIM:169550
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Congenital Disorder Of Glycosylation, Type Id
Optic atrophy, Clinodactyly of the 5th toe, Joint contracture of the hand, Villous atrophy, High ... OMIM:601110
Bardet-Biedl Syndrome 13
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... OMIM:615990
Microphthalmia, Lenz Type
Orofacial cleft, Abnormal shoulder morphology, Hydroureter, Hypospadias, Clinodactyly of the 5th ... ORPHA:568
2Q24 Microdeletion Syndrome
Short philtrum, Abnormality iris morphology, Coloboma, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, C... OMIM:118100
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Anal atresia, Prominent metopic ridge, Short middle phalanx ... OMIM:309620
Zika Virus Disease
Ankle swelling, Wrist swelling, Optic disc hypoplasia, Arthritis, Chorioretinal atrophy, Miscarri... ORPHA:448237
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Iris coloboma, Single tr... OMIM:244300
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d... ORPHA:90650
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Microcornea, Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma OMIM:615147
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Bardet-Biedl Syndrome 14
Polydactyly, Rod-cone dystrophy, Renal insufficiency OMIM:615991
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Long philtrum, ... OMIM:265000
Microphthalmia With Brain And Digit Anomalies
Proximal placement of thumb, Retinal dystrophy, Finger syndactyly, Microcornea, High palate, Scle... ORPHA:139471
Branchio-Oculo-Facial Syndrome
Premature graying of hair, Orofacial cleft, Non-midline cleft of the upper lip, Microcornea, Colo... ORPHA:1297
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Postaxial polydactyly, Attenuat... OMIM:614500
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Delayed pubic bone ossific... ORPHA:1856
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Ocular anterior segment dysgenesis, Hypoplasia of penis, Abnormality of the dentition, Hip dyspla... OMIM:601427
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Vertebral segmentation... ORPHA:1104
Absent or minimally ossified vertebral bodies, Missing ribs, Cleft palate, Narrow pelvis bone, Mu... ORPHA:66637
Wildervanck Syndrome
Short neck, Lens subluxation, Fused cervical vertebrae, Pseudopapilledema ORPHA:3456
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Microphthalmia/Coloboma 5
Orofacial cleft, Chorioretinal coloboma, Iris coloboma OMIM:611638
Otodental Syndrome
Long philtrum, Taurodontia, Agenesis of premolar, Abnormality of canine, Delayed eruption of teet... ORPHA:2791
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... OMIM:108720
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Joint stiffness, Biconcave vertebral b... ORPHA:166011
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Cervical C2/C3 vertebral fusion, High palate, Everted lower lip vermilion, Thoraco... OMIM:616549
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormal optic disc morphology, Broad thumb, Long philtrum, Short 5th fin... ORPHA:508498
Cofs Syndrome
Optic atrophy, Everted lower lip vermilion, Prominent metopic ridge, Joint stiffness, Camptodacty... ORPHA:1466
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Orofacial cleft, Microcornea, Narrow mouth, Abnormally ossified vertebrae, Aplasia... ORPHA:3301
Mulibrey Nanism
Astigmatism, Hypodontia, Single transverse palmar crease, Corneal dystrophy, Dental crowding, Ena... OMIM:253250
3C Syndrome
Abnormal hip bone morphology, Hypoplasia of penis, Kyphosis, Death in infancy, Intestinal malrota... ORPHA:7
Hypospadias, Hypoplasia of penis, Finger syndactyly, Non-midline cleft of the upper lip, Narrow m... ORPHA:3376
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Renal cyst, Syndactyly, Brachydactyly, Retinal degener... OMIM:615982
Bardet-Biedl Syndrome 9
Polydactyly, Astigmatism, Bone spicule pigmentation of the retina, Postaxial hand polydactyly, Po... OMIM:615986
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Hypospadias, Abnormal finger morphology, Hip dysplasia, Wrist flexion contra... ORPHA:436003
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Urinary incontinence, Sandal gap, Short philtrum, Single trans... OMIM:617927
3Q29 Microduplication Syndrome
Aniridia, Sandal gap, Ectopic anus, High palate, Abnormality of the dentition, Camptodactyly of t... ORPHA:251038
2Q31.1 Microdeletion Syndrome
Sandal gap, Everted lower lip vermilion, Kyphosis, Delayed skeletal maturation, Long philtrum, Ab... ORPHA:251014
Verheij Syndrome
Long philtrum, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Short 5th finger, Coloboma, Rena... OMIM:615583
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Temtamy Syndrome
Lens luxation, Dental crowding, Short 2nd toe, Hypoplasia of teeth, Ectopia lentis, Chorioretinal... OMIM:218340
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Unilateral renal agenesis, Vertebral segmentation defect, Short long bone, Death i... OMIM:618845
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Stromme Syndrome
Stillbirth, Preaxial polydactyly, Duodenal atresia, Optic nerve hypoplasia, Microcornea, Intestin... OMIM:243605
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal palate morphology, Clinodactyly of the 5th finger, Scoliosis, Heterochromia iridis, Cari... ORPHA:1390
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Short long bone, Corneal opacity, Short metacarpal, Retinal atrophy... ORPHA:85167
Aldh18A1-Related De Barsy Syndrome
Joint hypermobility, Cataract ORPHA:35664
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Astigmatism, Fused cervical vertebrae, Short 1st metacarpal, Optic nerv... OMIM:609053
Jeune Syndrome
Abnormal metaphysis morphology, Nephronophthisis, Postaxial hand polydactyly, Nephropathy, Abnorm... ORPHA:474
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Meckel diverticulum, Femoral bowing, Corneal opacity, Death in infancy, Bro... OMIM:274000
Sifrim-Hitz-Weiss Syndrome
Astigmatism, Fused cervical vertebrae, Renal insufficiency, Short clavicles, Vesicoureteral reflu... OMIM:617159
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Hypoplasia of penis, Retinal dystrophy, Retinal detachment, Mic... ORPHA:899
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate, Hypospadias, Radioulnar synostosis OMIM:302905
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Cohen Syndrome
Abnormal hip bone morphology, Sandal gap, Kyphosis, Tooth agenesis, Arachnodactyly, Joint hypermo... ORPHA:193
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy... ORPHA:166016
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Long philtrum, Cervical C2/C3 vertebral fusion, Short philtrum, Narrow mouth, Camptodactyly, Down... OMIM:617333
Orofaciodigital Syndrome Type 5
Abnormal oral frenulum morphology, Bifid uvula, Accessory oral frenulum, Aganglionic megacolon, S... ORPHA:2919
Coloboma Of Macula With Type B Brachydactyly
Coloboma, Absent distal phalanges, Broad distal phalanx of the thumb, Bifid distal phalanx of the... OMIM:120400
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Hammertoe, Squared ... OMIM:618000
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis, Bowed humerus, S... OMIM:272460
Achondrogenesis Type 2
Abnormal bone ossification, Abnormal vitreous humor morphology, Delayed pubic bone ossification, ... ORPHA:93296
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Apert Syndrome
Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Craniosynostosis, Narrow palate, Po... OMIM:101200
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Cat-Eye Syndrome (Type I)
Anal atresia, Iris coloboma DECIPHER:42
1Q21.1 Microdeletion Syndrome
Long philtrum, Clinodactyly of the 5th finger, Scoliosis, Vesicoureteral reflux, High palate, Cat... ORPHA:250989
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Tessier cleft, Orofacial cleft, Finger syndactyly, Corneal opacity, A... ORPHA:1647
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f... ORPHA:163649
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab... ORPHA:536471
Lamb-Shaffer Syndrome
Optic atrophy, Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Thick vermilion border, Hi... ORPHA:530983
Duane Retraction Syndrome
Irregular hyperpigmentation, Ectopic kidney, Aniridia, Abnormal form of the vertebral bodies, Eve... ORPHA:233
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,... OMIM:184460
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus, Scoliosis, Absent phalangeal crease, Recurrent patellar d... OMIM:108145
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Aarskog-Scott Syndrome
Everted lower lip vermilion, Long philtrum, Joint hypermobility, Abnormality of the dentition, Sh... ORPHA:915
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Baraitser-Winter Syndrome 1
Orofacial cleft, Duplication of phalanx of hallux, Cleft upper lip, Wide mouth, Chorioretinal col... OMIM:243310
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Hamartomatous stomach polyps, Short ribs, Polydactyly, Short 4th metacarpal, Palm... OMIM:109400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Focal Dermal Hypoplasia
Short ribs, Corneal opacity, Hypoplastic pelvis, Split foot, Upper limb asymmetry, Abnormal palma... ORPHA:2092
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Iris coloboma, Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis i... ORPHA:371428
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Supernumerary tooth, Juvenile cataract, Oligodontia, Abnormality of the ... ORPHA:1264
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Knee pain, Hyperextensibility at elbow, Periarticular soft-tissue mass, Syno... OMIM:601492
Joubert Syndrome 16
Polydactyly, Nephronophthisis, Retinal dystrophy, Coloboma, Renal cyst OMIM:614465
Bardet-Biedl Syndrome 11
Polydactyly, Retinopathy OMIM:615988
Crouzon Syndrome
Optic atrophy, Hypopigmented skin patches, Narrow palate, Multiple suture craniosynostosis, Melan... ORPHA:207
Stickler Syndrome, Type I
Spondylolisthesis, Kyphosis, Joint stiffness, Arachnodactyly, Bifid uvula, Irregular femoral epip... OMIM:108300
Gorlin Syndrome
Orofacial cleft, Abnormal vertebral morphology, Iris coloboma, Palmar pits, Bifid ribs, Odontogen... ORPHA:377
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft upper lip, Iris coloboma OMIM:155145
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Hypospadias, Finger syndactyly, Cleft palate, Iris coloboma ORPHA:66629
Eem Syndrome
Macular dystrophy, Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly... ORPHA:1897
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, High, narrow palate, Hypopigmentation of hair, Hyperpigmentation of t... ORPHA:3214
Nizon-Isidor Syndrome
High, narrow palate, Hypospadias, Short philtrum, Prominent fingertip pads, Narrow mouth, Everted... OMIM:618872
Oculoauricular Syndrome
Microphakia, Short mandibular rami, Ocular anterior segment dysgenesis, Spina bifida occulta, Iri... OMIM:612109
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Glossoptosis, Death in infancy, Epiphyseal stippling OMIM:614876
Kbg Syndrome
Widely-spaced maxillary central incisors, Finger clinodactyly, Single transverse palmar crease, S... ORPHA:2332
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft palate, High palate, Ankyloglossia, Cafe-au-lait spot, Enamel hypopl... OMIM:618874
Distal Deletion 13Q
Optic atrophy, Abnormality of the hand, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the... ORPHA:1590
Cleft Lip-Retinopathy Syndrome
Retinopathy, Non-midline cleft of the upper lip, Abnormality of retinal pigmentation ORPHA:1995
Autosomal Recessive Stickler Syndrome
Genu valgum, Astigmatism, Retinal detachment, Vitreoretinopathy, Abnormal epiphysis morphology, C... ORPHA:250984
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Intellectual Developmental Disorder, Autosomal Dominant 52
Astigmatism, Cervical C2/C3 vertebral fusion, Short philtrum, Scapular winging, High palate, Lumb... OMIM:617796
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Shallow anterior chamber, Chorioretinal coloboma, Flat cornea, Optic disc coloboma, ... OMIM:602499
Mosaic Trisomy 20
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Hypopigmented strea... ORPHA:1724
Apert Syndrome
Optic atrophy, Narrow palate, Corneal erosion, Esophageal atresia, Aplasia/Hypoplasia of the thum... ORPHA:87
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of t... OMIM:184705
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Bardet-Biedl Syndrome 16
Polydactyly, Renal insufficiency, Renal cyst, Retinal degeneration, Stage 5 chronic kidney diseas... OMIM:615993
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia... OMIM:610017
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Unilateral renal agenesis, Spina bifida occulta, E... OMIM:619227
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Dental crowding, Broad thumb, Mesomelia, Wide mouth, Long philtrum, Short distal ... OMIM:616331
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Bifid uvula, Cleft palate, Hyporeflective spaces on m... ORPHA:506353
Shashi-Pena Syndrome
Deep palmar crease, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Scoliosis, Short ... OMIM:617190
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Rod-cone dystrophy, Clinoda... OMIM:615984
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Orofaciodigital Syndrome Xvii
Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Prominent met... OMIM:617926
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Astigmatism, Hypospadias, Broad distal phalanx of finger, Sandal gap, Dental crowd... OMIM:615761
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the hand or of finger... OMIM:114300
Trisomy 18
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Abnormality of the uppe... ORPHA:3380
Hypophosphatemic Rickets, X-Linked Recessive
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... OMIM:300554
Hajdu-Cheney Syndrome
Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Intestinal malrotation, Crowd... OMIM:102500
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ... ORPHA:93315
Absence Deformity Of Leg-Cataract Syndrome
Abnormal femur morphology, Scoliosis, Hyperlordosis, Abnormal epiphysis morphology, Anal atresia,... ORPHA:2310
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hypospadias, Esophageal atresia, Hypoplasia of penis, 11 pairs of ... ORPHA:77298
Joubert Syndrome With Ocular Defect
Orofacial cleft, Abnormal vertebral morphology, Aganglionic megacolon, Retinal dystrophy, Scolios... ORPHA:220493
Otopalatodigital Syndrome Type 2
Developmental glaucoma, Glossoptosis, Flared iliac wing, Anodontia, Fibular aplasia, Tarsal synos... ORPHA:90652
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Retinal dystrophy, Scoliosis, Nephropathy, Foot polydactyly, Hand polydact... ORPHA:2318
Frontofacionasal Dysplasia
Tessier cleft, Non-midline cleft of the upper lip, Microcornea, Cleft palate, Brushfield spots, C... ORPHA:1791
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Spondylometaphyseal Dysplasia, Schmidt Type
Kyphoscoliosis, Narrow greater sciatic notch, Short iliac bones, Abnormality of the wrist, Genu v... ORPHA:93316
Ramon Syndrome
Narrow palate, Abnormal anterior chamber morphology, Gingival fibromatosis, Delayed eruption of t... ORPHA:3019
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Carpenter Syndrome
Kyphoscoliosis, Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Abnormal... ORPHA:65759
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Abnormal digit morphology, Cleft upper lip, Cleft palate, Palmoplantar cuti... OMIM:268850
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Fused cervical vertebrae, Stomatitis, Broad ribs, Flaring of rib cage, O... OMIM:612852
Curry-Jones Syndrome
Anal stenosis, Unicoronal synostosis, Intestinal pseudo-obstruction, Bicoronal synostosis, Lip pi... OMIM:601707
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Kyphosis, Brachydactyly, Shor... OMIM:618392
Joubert Syndrome 15
Preaxial polydactyly, Nephronophthisis, Retinal dystrophy, Coloboma, Retinopathy, Micropenis OMIM:614464
Hajdu-Cheney Syndrome
Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Intes... ORPHA:955
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Abn... ORPHA:93160
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Astigmatism, Hypospadias, Scoliosis, Vesicoureteral reflux, Chorioretinal coloboma... ORPHA:494344
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Frontometaphyseal Dysplasia 2
Dislocated radial head, Short metacarpal, Broad thumb, Bifid uvula, Short philtrum, Scoliosis, Ca... OMIM:617137
Flynn-Aird Syndrome
Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, Cat... OMIM:136300
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Chops Syndrome
Optic atrophy, Long philtrum, High, narrow palate, Cervical C2/C3 vertebral fusion, Tracheomalaci... OMIM:616368
Donnai-Barrow Syndrome
Retinal dystrophy, Retinal detachment, Intestinal malrotation, Proteinuria, Iris coloboma ORPHA:2143
Stickler Syndrome, Type Ii
High, narrow palate, Abnormal vitreous humor morphology, Retinal detachment, Arthropathy, Catarac... OMIM:604841
Bardet-Biedl Syndrome 17
Polydactyly, Polyuria, Bone spicule pigmentation of the retina, Mesoaxial polydactyly, Rod-cone d... OMIM:615994
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Delayed skeletal maturation, Short thumb, Chorioretinal coloboma, Cataract ORPHA:2489
Joubert Syndrome 18
Kyphoscoliosis, Bowing of the long bones, Renal cyst, Camptodactyly, Postaxial polydactyly, Cleft... OMIM:614815
Baraitser-Winter Cerebrofrontofacial Syndrome
Osteochondrosis, Thin vermilion border, Hydroureter, Delayed cranial suture closure, Scoliosis, M... ORPHA:2995
Congenital Disorder Of Glycosylation, Type Ii
Joint hypermobility, High palate, Cataract, Iris coloboma OMIM:607906
Sjögren-Larsson Syndrome
Corneal erosion, Macular degeneration, Scoliosis, Abnormal dental enamel morphology, Kyphosis, Jo... ORPHA:816
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Widely spaced teeth, Retinal dystrophy, Attenuation of r... OMIM:616108
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short long bone, Flat acetabular roof, Short ribs, Microdontia, Mesomelia, Syndactyly, Short dist... OMIM:614091
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Kyphosis, Retinopathy, Delayed sk... ORPHA:280
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Ectopic kidney, Tracheomalacia, Tracheoesophageal fistula, Foot p... ORPHA:268249
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Retinal detachment, Microcornea, Sclerocorn... OMIM:615145
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Butterfly vertebrae, Narrow palate, Dental crowding, Scoliosis, Thoracic kyphoscol... ORPHA:313892
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, High, narrow palate, Hypermobility of interphalangeal joints, Atlantoaxial abnorm... ORPHA:3433
Pai Syndrome
Abnormal oral frenulum morphology, Cleft palate, Bifid uvula, Median cleft upper lip, Iris coloboma ORPHA:1993
Nephronophthisis 15
Polydactyly, Retinal degeneration, Nephronophthisis OMIM:614845
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Retinal thinning, Genu valgum, Asteroid hyalosis, Narrow mouth, Epiphyseal dysplasia, Short phala... OMIM:132450
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Lowry-Wood Syndrome
Astigmatism, Irregular epiphyses, Dislocated radial head, Abnormal epiphysis morphology, Coxa var... ORPHA:1824
Scoliosis, Camptodactyly of finger, Bifid tongue, Cleft palate, Brachydactyly, Cataract, Finger c... ORPHA:391474
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Epiphyseal stippling, Optic nerve hypoplasia, Scoliosis, Zonular cataract... OMIM:222765
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Joubert Syndrome With Renal Defect
Orofacial cleft, Aganglionic megacolon, Scoliosis, Nephropathy, Hand polydactyly, Cleft palate, R... ORPHA:220497
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand, Chorioretinal atrophy, Micropenis, Pigmentary retinopathy OMIM:245800
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Scoliosis, Arachnodactyly, Abnormality of retinal pigmentation, ... ORPHA:171844
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Retinal atrophy, Posterior synechiae of the anterior chamber OMIM:616722
Stickler Syndrome, Type Iv
Genu valgum, Platyspondyly, Intervertebral space narrowing, Astigmatism, Flat capital femoral epi... OMIM:614134
Kapur-Toriello Syndrome
Orofacial cleft, Hypoplasia of penis, Retinal coloboma, Intestinal malrotation, Short neck, Iris ... ORPHA:2328
Cataract, Iris coloboma ORPHA:79326
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p... OMIM:251270
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Tibial bowing, Enamel hypomineralization, Metaphyseal irregularity, Rickets, Fibu... OMIM:307800
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Abnormality of retinal pigmentation, Clinodactyly of the 5th finger, Sandal gap ORPHA:2515
Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Senior-Loken Syndrome 9
Osteopenia, Polydactyly, Nephronophthisis, Retinal dystrophy, Macular degeneration, Hypoplasia of... OMIM:616629
Stickler Syndrome Type 1
Long philtrum, Abnormal vitreous humor morphology, Abnormal vertebral epiphysis morphology, Retin... ORPHA:90653
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Koolen-De Vries Syndrome
Ureteral duplication, Everted lower lip vermilion, Kyphosis, Microdontia, Arachnodactyly, Joint h... ORPHA:96169
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Uveitis, Remnants of the hyaloid vas... OMIM:221900
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor... ORPHA:2916
Triple A Syndrome
Optic atrophy, Abnormality of the hypothenar eminence, Palmoplantar keratoderma, Generalized hype... ORPHA:869
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging of the costochondral junction, Femoral bowing, Tibial bowing, Metaphyseal irregularity, R... OMIM:241530
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria OMIM:236130
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Long philtrum, Astigmatism, Unilateral renal agenesis, Tracheomalacia, Dental crowding, Vesicoure... OMIM:620654
1Q21.1 Microduplication Syndrome
Hypospadias, Hip dysplasia, Cataract, Arthrogryposis multiplex congenita, Talipes equinovarus, Hi... ORPHA:250994
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma OMIM:613094
Coloboma Of Macula And Skeletal Anomalies
Macular coloboma, Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger,... OMIM:216800
Donnai-Barrow Syndrome
Retinal dystrophy, Retinal detachment, Hypoplasia of the iris, Intestinal malrotation, Short ster... OMIM:222448
Lateral Meningocele Syndrome
High, narrow palate, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Dental cro... ORPHA:2789
Dent Disease 1
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... OMIM:300009
Hallermann-Streiff Syndrome
Hyperlordosis, Everted lower lip vermilion, Joint hypermobility, Decreased number of sternal ossi... OMIM:234100
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Optic atrophy, Bone spicule pigmentation of the retina, Recurrent fractures, Glycosuria,... OMIM:268315
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy, Hypoplasia of penis OMIM:275400
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip... OMIM:178110
Morm Syndrome
Cataract, Retinal atrophy, Micropenis, Retinal dystrophy ORPHA:75858
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Leber Congenital Amaurosis 2
Keratoconus, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Catara... OMIM:204100
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cleft palat... ORPHA:90654
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Cleft upper lip, Cleft palate, Abn... OMIM:312150
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Bifid uvula, Broad philtrum, Abnormality of the anus, Long philt... OMIM:211380
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Scoliosis, Hammertoe, Pigmentary retinopathy OMIM:619090
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Joubert Syndrome 22
Retinal dysplasia, 2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Renal hypoplasia, Po... OMIM:615665
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Bifid uvula, Abnormality of retinal pigmentation, Cleft palate, Submucou... ORPHA:2521
Leber Congenital Amaurosis 1
Keratoconus, Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreon... OMIM:204000
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Abnormal form of the vertebral bodies, Hypoplasia of penis, Kyphosis... ORPHA:818
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly OMIM:612913
Microform Holoprosencephaly
Orofacial cleft, Cyclopia, Solitary median maxillary central incisor, Short philtrum, Hypoplasia ... ORPHA:280200
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Crystalline corneal dystroph... ORPHA:41751
Juvenile Paget Disease
Optic atrophy, Cranial hyperostosis, Bowing of the long bones, Osteoporosis, Abnormality of the d... ORPHA:2801
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Hematuria, Nephrolithiasis, Abnormality of retinal pigmentation, Chorioretinal ... ORPHA:2196
Focal Dermal Hypoplasia
Ureteral duplication, Aniridia, Short ribs, Hypopigmentation of the skin, Short metacarpal, Split... OMIM:305600
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Retinopathy, Split foot, Cataract OMIM:183800
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Short metacarpal, Kyphosis, Everted lower lip vermilion, D... ORPHA:192
Koolen-De Vries Syndrome
Spondylolisthesis, Prominent fingertip pads, Everted lower lip vermilion, Kyphosis, Joint hypermo... OMIM:610443
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Facial Clefting, Oblique, 1
Deep palmar crease, Coloboma, Cleft upper lip, Cleft palate, Tessier number 4 facial cleft OMIM:600251
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly, Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Hijazi-Reis Syndrome
Iris coloboma, Astigmatism, Ankle clonus OMIM:301094
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Urinary incontinence, Bone spicule pigmentation of the retina, Scoliosis, Camptoda... OMIM:609033
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Cataract, Irregularity of vertebral bodies, S... ORPHA:85172
Frontonasal Dysplasia 1
Widely-spaced maxillary central incisors, Radial deviation of finger, Pectoral muscle hypoplasia/... OMIM:136760
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Genu valgum, Hypospadias, Aplasia/Hypoplasia of the lens, Hypoplasia ... ORPHA:1381
Unilateral Ocular Duplication
Midline facial cleft, Microcornea, Cleft palate, Abnormal pupil morphology, Median cleft upper li... ORPHA:3374
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Scoliosis, High palate, Cleft palate, Optic disc coloboma, Short neck, Iris coloboma ORPHA:52055
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Ureteral duplication, Ectopic kidney, Abnormal... ORPHA:3027
Jacobsen Syndrome
Abnormal form of the vertebral bodies, Death in infancy, Intestinal malrotation, Abnormality of t... ORPHA:2308
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Hypophosphatasia, Adult
Rickets, Arthropathy, Osteomalacia, Carious teeth, Premature loss of primary teeth, Pathologic fr... OMIM:146300
Spondylocostal Dysostosis 5
Butterfly vertebrae, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs, Posterior rib fu... OMIM:122600
White-Sutton Syndrome
Thin vermilion border, Astigmatism, Short philtrum, Optic nerve hypoplasia, Wormian bones, High p... OMIM:616364
Biemond Syndrome Type 2
Preaxial polydactyly, Hypospadias, Coloboma ORPHA:141333
Narrow palate, Widely spaced teeth, Avascular necrosis, Craniofacial hyperostosis, Arthritis, Sco... ORPHA:61
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:611040
Joubert Syndrome
Orofacial cleft, Aganglionic megacolon, Abnormal form of the vertebral bodies, Scoliosis, Foot po... ORPHA:475
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets, Retinopathy, Corneal crystals, Proteinuria, Stage 5 chronic kidney disease, Retinal pigm... OMIM:219900
Kniest Dysplasia
Tibial bowing, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped femur, Genu varum, ... OMIM:156550
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Hypopigmented skin patches, Sandal gap, Scoliosis, Cataract, Abnormality of retina... ORPHA:2715
Sturge-Weber Syndrome
Optic atrophy, Retinal detachment, Hyperostosis, Corneal dystrophy, Gingival overgrowth, Heteroch... ORPHA:3205
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Ri... ORPHA:1652
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hyp... ORPHA:3258
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Joint dislocation, Hypodontia, Tapered finger, Glossop... ORPHA:3201
Vici Syndrome
Optic atrophy, Renal tubular acidosis, Hypopigmentation of the skin, High palate, Death in infanc... ORPHA:1493
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Femoral bowing, Short long bone, Short ribs, Absent tibia, Intestinal malrotatio... OMIM:613091
Cerebrooculonasal Syndrome
Narrow palate, Solitary median maxillary central incisor, Optic nerve hypoplasia, Postaxial hand ... OMIM:605627
Bardet-Biedl Syndrome 19
Y-shaped metacarpals, Postaxial polydactyly, Renal hypoplasia, Cone/cone-rod dystrophy, Hydroneph... OMIM:615996
Microphthalmia/Coloboma 4
Microcornea, Coloboma OMIM:251505
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco... ORPHA:64754
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Triangular mouth, Cleft soft palate, Gingival overgrowth, Prominent fingertip pads, A... OMIM:618529
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Pigmentary retinopathy, Micropenis, Abnormality of the tongue muscle, Multiple joint c... ORPHA:370968
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Polycystic kidney dysplasia, Single transv... OMIM:617866
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Enlargement of the costochondral junction, Enlargement of the wrists, Bo... OMIM:600081
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental c... ORPHA:324416
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Delayed skeletal maturation, Ectopia pupillae, M... OMIM:194190
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Bulging of the costochondral junction, Femoral bowing, Tibial bowing, ... OMIM:264700
Meckel Syndrome, Type 10
Sacral dimple, Hypospadias, Postaxial hand polydactyly, Renal cyst, Camptodactyly, Postaxial poly... OMIM:614175
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Delayed skeletal maturation, Abnormality of retinal pigmentation, Short ... ORPHA:3085
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
8P11.2 Deletion Syndrome
Sacral dimple, Retinal dystrophy, Hypoplasia of penis, Microcornea, High palate, Supernumerary ri... ORPHA:251066
Nail-Patella Syndrome
Microphakia, Patellar dislocation, Keratoconus, Scoliosis, Disproportionate prominence of the fem... OMIM:161200
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Cyclopia, Orofacial cleft, Aplasia/Hypoplasia o... ORPHA:3186
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Nephrocalcinosis, Brachydactyly, Horizontal ribs, Rod-con... OMIM:615633
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, Postaxial hand polydactyly, High... OMIM:620107
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Rhizomelia, Proximal placement of thumb, Short philtrum, Decrease... ORPHA:93267
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Amish Lethal Microcephaly
Optic atrophy, Cleft soft palate, Organic aciduria, Limitation of joint mobility, Decreased skull... ORPHA:99742
Microphthalmia, Syndromic 2
Sandal gap, Bifid uvula, Long philtrum, 2-3 toe cutaneous syndactyly, Radiculomegaly, Hypospadias... OMIM:300166
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short finger, Long philtrum, Astigmatism, Hypospadias, Scoliosis, Vesicoureteral reflux, Tapered ... OMIM:618659
Orofaciodigital Syndrome V
Aganglionic megacolon, Sandal gap, Scoliosis, Postaxial hand polydactyly, High palate, Ankyloglos... OMIM:174300
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Bone pain, Abnormality of the dentiti... OMIM:193100
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Cree Mental Retardation Syndrome
Rocker bottom foot, Hypospadias, Cleft soft palate, Coloboma, Cutaneous finger syndactyly, Aplasi... OMIM:606851
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral fusion, Proximal placement of th... OMIM:142900
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Death in childhood, Cubitus valgus, Polycystic kidney dysplasia, Single tr... OMIM:214110
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Bilateral single transverse palmar creases, Tessier cleft, Abnormal palate morphology, Scoliosis,... ORPHA:1236
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Hemivertebrae, Narrow mouth, Tracheoesopha... ORPHA:1780
Dubowitz Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, Single tra... OMIM:223370
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Meckel diverticulum, Vesicoureteral reflux, Anal atresia, Intestin... OMIM:115470
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Abnormality of the dentition, Delayed skeletal maturation, Retinal degeneration, Micropenis, Pigm... ORPHA:3363
Multiple Pterygium Syndrome, Lethal Type
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Cleft palate, Abnormal cervical cu... OMIM:253290
Joubert Syndrome With Hepatic Defect
Orofacial cleft, Multicystic kidney dysplasia, Renal insufficiency, Scoliosis, Postaxial hand pol... ORPHA:1454
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Reduced bone mineral density, Macular exudate, Vitreous hemorrhage, Retin... ORPHA:891
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip OMIM:300484
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Multiple Epiphyseal Dysplasia Type 4
Stiff ankle, Short metacarpal, Joint stiffness, Accelerated skeletal maturation, Broad femoral ne... ORPHA:93307
Ring Chromosome 21 Syndrome
Scoliosis, Multiple cafe-au-lait spots, Narrow palm, Thoracic hemivertebrae, Syndactyly, Fused th... ORPHA:1445
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Astigmatism, Retinal pigment epithelial mottling OMIM:300814
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Macular cotton wool spot... ORPHA:411527
Adnp Syndrome
Polydactyly, Advanced eruption of teeth, Urinary incontinence, Astigmatism, Thick lower lip vermi... ORPHA:404448
Treacher-Collins Syndrome
Tessier cleft, Rectovaginal fistula, Hypoplasia of penis, Abnormality of the vertebral column, Ab... ORPHA:861
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Agenesis of permanent teeth, Oligodontia of primary ... OMIM:216300
Synpolydactyly 2
Polydactyly, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Metatarsal synostosis, Car... OMIM:608180
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Anteriorly placed anus, Single transverse palmar crease, Anal atresia, Chordee, Clef... OMIM:309801
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Delayed skeletal maturatio... OMIM:255800
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma, Cataract, Cleft palate, Joint h... OMIM:610125
Chromosome 16P13.3 Duplication Syndrome
Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microdontia, ... OMIM:613458
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Osteopetrosis, High, narrow palate, Spina bifida occulta, Delayed... ORPHA:2780
15Q24 Microdeletion Syndrome
Abnormal thumb morphology, Long philtrum, Abnormal palate morphology, Thick lower lip vermilion, ... ORPHA:94065
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Polyuria, Death in childhood, Proximal tubulopathy, Death in adolescence, Osteoporosis, ... OMIM:560000
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Baralle-Macken Syndrome
High, narrow palate, Urinary incontinence, Kyphosis, Cafe-au-lait spot, Cataract, Tapered finger OMIM:619255
Joubert Syndrome 20
Postaxial polydactyly, Retinopathy, Renal cyst, 4-5 toe syndactyly OMIM:614970
Meckel Syndrome, Type 8
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Cleft upper lip, Cleft palate, Short n... OMIM:613885
Jacobsen Syndrome
Optic atrophy, U-Shaped upper lip vermilion, Clinodactyly of the 5th finger, Hypospadias, Microco... OMIM:147791
Desmoid Tumor
Intestinal obstruction, Intestinal polyposis, Limitation of joint mobility, Hydronephrosis, Abnor... ORPHA:873
Micro Syndrome
Optic atrophy, Short philtrum, Hypoplasia of penis, Scoliosis, Microcornea, High palate, Kyphosis... ORPHA:2510
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Hypoplasia of penis, Bifid uvula, Cleft palate, Failure of eruption of permane... ORPHA:2250
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis... ORPHA:177
Myhre Syndrome
Gingival cleft, Large iliac wing, Joint stiffness, Bifid uvula, Unilateral cleft lip, Abnormal ep... ORPHA:2588
Multiple Sulfatase Deficiency
Optic atrophy, Corneal opacity, Joint stiffness, Mucopolysacchariduria, Broad thumb, Abnormality ... ORPHA:585
Neuroocular Syndrome
Stellate iris, Prominent fingertip pads, Sacral dimple, Deep palmar crease, Short uvula, Torus pa... OMIM:619539
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Anal stenosis, Spina bifida occulta, Scoliosis, Hemivertebr... OMIM:613686
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Postaxial polydactyly, Syndactyly, Rod-cone dystrophy, Pigmentary retino... OMIM:605231
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Thoracolumbar scoliosis, Bifid uvula, Optic disc coloboma, Short neck, Iris coloboma OMIM:300472
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Bone pain, Hypercalciuria, Osteomalacia, ... ORPHA:157215
Craniosynostosis 2
Supernumerary tooth, Triphalangeal thumb, Unicoronal synostosis, Cleft soft palate, Bicoronal syn... OMIM:604757
Schimmelpenning-Feuerstein-Mims Syndrome
Kyphoscoliosis, Osteopenia, Hypophosphatemic rickets, Horseshoe kidney, Abnormality of dental col... OMIM:163200
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, C... OMIM:617781
9Q21.13 Microdeletion Syndrome
Polydactyly, Abnormal tongue morphology, Scoliosis, Vertebral segmentation defect, Downturned cor... ORPHA:531151
Larsen Syndrome
Multiple carpal ossification centers, Spondylolysis, Corneal opacity, Short metacarpal, Dislocate... OMIM:150250
Harrod Syndrome
Hypopigmented skin patches, Abnormal shoulder morphology, Hypospadias, Scoliosis, High palate, Ab... ORPHA:2115
Codas Syndrome
Hydroureter, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental en... ORPHA:1458
Orofaciodigital Syndrome Iv
Short finger, Hamartoma of tongue, Tongue nodules, High palate, Foot polydactyly, Postaxial polyd... OMIM:258860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis, Flexion contracture, Open mouth, Macroglossia, Micropenis, Pigmentary r... OMIM:613156
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High palate, Delayed skeletal matur... ORPHA:231140
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Short humerus, Long philtrum,... OMIM:117650
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Enlargement of the wrists, Bone pain, Enlargement of the ankles, Delayed... OMIM:277440
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Long philtrum, Elevated urinary aminoisobutyric acid, Short philtrum, Single transverse palmar cr... OMIM:614105
Lowry-Wood Syndrome
Limited elbow extension, Multiple joint dislocation, Irregular epiphyses, Clinodactyly of the 5th... OMIM:226960
Peters-Plus Syndrome
Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Sh... OMIM:261540
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hypospadias, Esophageal atresia, Optic nerve hypoplasia, Coloboma, Hemiverte... OMIM:206900
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Microcornea, Retinopathy, Tented upper lip vermilion, Brachydacty... ORPHA:313781
Solitary median maxillary central incisor, Hypoplasia of penis, Abnormal form of the vertebral bo... ORPHA:2162
Pallister-Hall Syndrome
Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Townes-Brocks Syndrome
Ectopic kidney, Hypoplasia of penis, Absent toe, Broad thumb, Urethral valve, Wide mouth, Multipl... ORPHA:857
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Prominent metopic ridge, Downturned corners o... OMIM:618779
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Chronic tubulointerstitial nephritis, Rhizomelia, Broad long bone diaphyses, A... OMIM:614376
White-Sutton Syndrome
Optic atrophy, Astigmatism, Short philtrum, High palate, Narrow mouth, Downturned corners of mout... ORPHA:468678
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Elbow contracture,... OMIM:606612
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Broad thumb, Brachydactyly, Smooth philtrum, Peters anomaly OMIM:614526
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Long philtrum, Hip subluxation, Abnormal vertebral morphology, Fibular hypoplasia, Cervical C2/C3... ORPHA:444077
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormality of the hand, Short philtrum, Tooth malposition, Scoliosis, Hyperlordosis, High palate... ORPHA:1387
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Coloboma, Abnorma... ORPHA:2334
Chromosome 13Q14 Deletion Syndrome
Clinodactyly of the 5th finger, Retinoblastoma, Single transverse palmar crease, High palate, Eve... OMIM:613884
Cardiospondylocarpofacial Syndrome
Long philtrum, Cone-shaped epiphysis, Tarsal synostosis, Fused cervical vertebrae, Horseshoe kidn... OMIM:157800
Autosomal Recessive Hypophosphatemic Rickets
Polyarticular arthritis, Tibial bowing, Abnormality of renal excretion, Craniosynostosis, Genu va... ORPHA:289176
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Bardet-Biedl Syndrome 22
Polydactyly, Macular hypopigmentation, Rod-cone dystrophy, Postaxial foot polydactyly OMIM:617119
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Chromosome 6Pter-P24 Deletion Syndrome
Rocker bottom foot, Ocular anterior segment dysgenesis, Clinodactyly of the 5th finger, Peters an... OMIM:612582
Kbg Syndrome
Epispadias, Widely-spaced maxillary central incisors, Radial deviation of finger, Clinodactyly of... OMIM:148050
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... OMIM:607155
Even-Plus Syndrome
Hypodontia, Vesicoureteral reflux, High palate, Anal atresia, Vertebral clefting, Epiphyseal dysp... OMIM:616854
Suleiman-El-Hattab Syndrome
Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, High palate, Downturned ... OMIM:618950
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the... ORPHA:2557
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, B... OMIM:612463
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Urinary incontinence, Scol... ORPHA:268882
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cataract, Micromelia, Decreased calvarial ossification, Abnormal rib morphol... ORPHA:2772
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Kyphosis, Delayed skeletal maturation, Bifid uvula, Symphalangism aff... ORPHA:2658
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... ORPHA:175
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Bardet-Biedl Syndrome 1
Radial deviation of finger, Bone spicule pigmentation of the retina, Hyperautofluorescent macular... OMIM:209900
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Chromosome 8Q21.11 Deletion Syndrome
Short philtrum, Exaggerated cupid's bow, High palate, Short metacarpal, Camptodactyly, Downturned... OMIM:614230
Aicardi Syndrome
Optic atrophy, Butterfly vertebrae, Bifid ribs, Intestinal polyposis, Short philtrum, Retinal det... ORPHA:50
Laurin-Sandrow Syndrome
Mirror image polydactyly, Abnormality of the wrist, Tarsal synostosis, Abnormal metacarpal morpho... ORPHA:2378
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Retinopathy Of Prematurity
Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal ... ORPHA:90050
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
2-4 toe cutaneous syndactyly, Kyphosis, Abnormal toe morphology, Polydactyly, Sacral dimple, Asti... ORPHA:268261
Microphthalmia, Syndromic 1
Kyphoscoliosis, Radial deviation of finger, Dental crowding, Prominent fingertip pads, Abnormal p... OMIM:309800
Spondylo-Ocular Syndrome
Long philtrum, Thin vermilion border, Platyspondyly, Abnormal intervertebral disk morphology, Apl... ORPHA:85194
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar... ORPHA:364055
Exudative Vitreoretinopathy 4
Osteopenia, Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional reti... OMIM:601813
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mine... OMIM:617306
Joubert Syndrome 7
Genu valgum, Nephronophthisis, Retinal dystrophy, Scoliosis, Postaxial hand polydactyly, Renal cy... OMIM:611560
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Scoliosis, Prominent metopic ridge, Postaxial polydactyly, Broad hallu... OMIM:616362
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling OMIM:551500
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Death in childhood, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Cataract OMIM:620425
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Death in infancy, Neonatal death, Cataract, Optic disc pa... OMIM:613730
Meckel Syndrome, Type 1
Radial deviation of finger, Intestinal malrotation, Wide mouth, Syndactyly, Clinodactyly, Cystic ... OMIM:249000
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Optic atrophy, Deep palmar crease, Horseshoe kidney... OMIM:311900
Marshall Syndrome
Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul... OMIM:154780
Ring Chromosome 14 Syndrome
Short neck, High palate, Pigmentary retinopathy OMIM:616606
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Cohen Syndrome