Gene: Sh3pxd2b MGI:2442062

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SH3 and PX domains 2B

Synonyms:

G431001E03Rik, Fad49, Tks4

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sh3pxd2b 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.

Human diseases associated with Sh3pxd2b (2 diseases)
Human diseases predicted to be associated with Sh3pxd2b (3028 diseases)

The table below shows human diseases associated to Sh3pxd2b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Frank-Ter Haar Syndrome		Scoliosis, Delayed eruption of teeth, Camptodactyly of finger, Short philtrum, Hypertelorism, Bea...	ORPHA:137834
Frank-Ter Haar Syndrome		Wormian bones, Short phalanx of finger, Camptodactyly, Metatarsus adductus, Double outlet right v...	OMIM:249420

The table below shows human diseases predicted to be associated to Sh3pxd2b by phenotypic similarity.

Disease	Matching phenotypes	Source
Dyssegmental Dysplasia With Glaucoma	Platyspondyly, Wide anterior fontanel, Broad long bones, Proptosis, Short long bone, Flared metap...	OMIM:601561
Mucolipidosis Type Iii	Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis...	ORPHA:577
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Macular atrophy, Cerebral atrophy, Proptosis, Cataract, Cerebellar atrophy, Microcornea, Microcep...	OMIM:616171
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Infertility, Cataract, Hearing impairment, Rod-cone dystrophy	OMIM:300719
Birdshot Chorioretinopathy	Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua...	ORPHA:179
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Posteriorly rotated ears, Posterior subcapsular cataract, Chorioretinal degeneration, Microcornea...	OMIM:615458
Megalocornea	Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar...	OMIM:309300
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Slender build, Slender long bones with narrow diaphyses, Dense metaphyseal bands, Small for gesta...	ORPHA:50811
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Conductive hearing impairment, Atypical scarrin...	ORPHA:791
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Split hand, Hirsutism, Corneal...	OMIM:259600
Frank-Ter Haar Syndrome	Scoliosis, Delayed eruption of teeth, Camptodactyly of finger, Short philtrum, Hypertelorism, Bea...	ORPHA:137834
Brachydactyly, Type B1	Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda...	OMIM:113000
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Slender build, Genu valgum, Congenital generalized lipodystrophy, Sparse facial hair, Slender lon...	OMIM:608154
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Scoliosis, Carious teeth, Small epiphyses, High palate, Short femoral neck, Advanced ossification...	OMIM:618363
Multiple Epiphyseal Dysplasia With Robin Phenotype	Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi...	OMIM:601560
Stickler Syndrome Type 1	Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Abnormality of epiph...	ORPHA:90653
Ehlers-Danlos Syndrome, Classic-Like, 2	Squared iliac bones, Short neck, Cellulitis, Mitral valve prolapse, Low posterior hairline, Atrop...	OMIM:618000
Frank-Ter Haar Syndrome	Wormian bones, Short phalanx of finger, Camptodactyly, Metatarsus adductus, Double outlet right v...	OMIM:249420
Acrocapitofemoral Dysplasia	Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped...	OMIM:607778
Metaphyseal Chondrodysplasia, Spahr Type	Scoliosis, Hip dysplasia, Carious teeth, Hyperlordosis, Metaphyseal chondrodysplasia, Disproporti...	ORPHA:2501
Classic Multiminicore Myopathy	Scoliosis, Hip dysplasia, Right ventricular failure, Increased muscle lipid content, Microretrogn...	ORPHA:324604
Dental Anomalies And Short Stature	Platyspondyly, Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Herniation of interve...	OMIM:601216
Galactosialidosis	Hearing impairment, Cherry red spot of the macula, Corneal opacity	ORPHA:351
Oculofaciocardiodental Syndrome	Scoliosis, Oligodontia, Flexion contracture of the 2nd toe, Iris coloboma, Solitary median maxill...	ORPHA:2712
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Scoliosis, Hip dysplasia, Thin vermilion border, Narrow mouth, Abnormal form of the vertebral bod...	ORPHA:2370
Exudative Vitreoretinopathy 4	Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda...	OMIM:601813
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Chorioretinal coloboma, Cataract, Abnormality of the antihelix, Hearing impairment	OMIM:274205
Autosomal Dominant Keratitis	Aniridia, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the corneal stro...	ORPHA:2334
Neovascular Glaucoma	Retinal vein occlusion, Abnormal posterior eye segment morphology, Ocular hypertension, Iris neov...	ORPHA:94058
Anterior Segment Dysgenesis 5	Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano...	OMIM:604229
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ...	ORPHA:98973
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Midfac...	OMIM:118651
Elsahy-Waters Syndrome	Mandibular prognathia, Megalocornea, High palate, Broad philtrum, Hypoplasia of the maxilla, Long...	OMIM:211380
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Posterior subcapsular cataract, Bone...	OMIM:602772
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Convex nasal ridge, Contracture of the proximal interphalangeal joint of the 5th finger, Decrease...	ORPHA:293967
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Achilles tendon contracture, Cerebellar atrophy, Sensorineural hearing impairment, Subcapsular ca...	OMIM:612674
Chondrodysplasia, Grebe Type	Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi...	OMIM:200700
Multiple Epiphyseal Dysplasia, Lowry Type	Scoliosis, Genu valgum, Hypertelorism, Elbow dislocation, Rhizomelia, Cleft palate, Flattened epi...	ORPHA:166016
Microphthalmia, Syndromic 2	Scoliosis, Oligodontia, Iris coloboma, Sandal gap, Hammertoe, Dextrocardia, Contracture of the pr...	OMIM:300166
Leber Congenital Amaurosis 8	Keratoconus, Choriocapillaris atrophy, Cataract, Deeply set eye	OMIM:613835
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor	OMIM:615434
Brittle Cornea Syndrome 1	Scoliosis, Keratoconus, Decreased corneal thickness, Congenital hip dislocation, Mitral valve pro...	OMIM:229200
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Ocular hypertension	OMIM:618880
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Scoliosis, Large iliac wing, Large fontanelles, Mandibular prognathia, Abnormality of the metacar...	ORPHA:2511
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,...	OMIM:613581
Contractural Arachnodactyly, Congenital	Scoliosis, Camptodactyly, Metatarsus adductus, Congenital kyphoscoliosis, Wrist flexion contractu...	OMIM:121050
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Sensorineural hearing impairment, Fundus atrophy	OMIM:204000
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the...	OMIM:600132
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Geographic atrophy, Bone spicule pigmentation of the retina, Rod-...	OMIM:180105
Frontometaphyseal Dysplasia 1	Scoliosis, Hirsutism, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contractur...	OMIM:305620
Hypochondroplasia	Limited elbow extension, Frontal bossing, Childhood onset short-limb short stature, Aplasia/hypop...	OMIM:146000
Cerebrooculofacioskeletal Syndrome 1	Osteoporosis, Arthrogryposis multiplex congenita, Gliosis, Camptodactyly, Deeply set eye, Catarac...	OMIM:214150
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Cataract, Hearing impairment, Abnormality of th...	ORPHA:65
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy	OMIM:617304
Leber Congenital Amaurosis 2	Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy	OMIM:204100
Retinitis Pigmentosa 83	Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters...	OMIM:618173
Leber Congenital Amaurosis 4	Macular atrophy, Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Opti...	OMIM:604393
Retinitis Pigmentosa 23	Posterior subcapsular cataract, Rod-cone dystrophy	OMIM:300424
Syndactyly Type 4	6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ...	ORPHA:93405
Idiopathic Anterior Uveitis	Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia...	ORPHA:280914
Progeroid Syndrome, Petty Type	Shagreen patch, Wide anterior fontanel, Sparse hair, Abnormal hair morphology, Lipoatrophy, Long ...	ORPHA:2963
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Recurrent fractures, Re...	OMIM:133780
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bon...	OMIM:613810
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Hypergonadotropic hypogonadism, Cerebral atrophy, Cerebellar atrophy, Sec...	OMIM:268020
Premature Aging Syndrome, Penttinen Type	Scoliosis, Wormian bones, Sparse hair, Thin calvarium, Midface retrusion, Lipoatrophy, Proptosis,...	OMIM:601812
Polyvalvular Heart Disease Syndrome	Short philtrum, Arrhythmia, Dental crowding, Abnormal heart valve morphology, High palate, Tricus...	ORPHA:228410
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor	OMIM:616469
Spondyloepiphyseal Dysplasia, Nishimura Type	Abnormal femoral neck/head morphology, Platyspondyly, Anisospondyly, Wide anterior fontanel, Fron...	ORPHA:163649
Parastremmatic Dwarfism	Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck	OMIM:168400
Mucopolysaccharidosis, Type Iva	Scoliosis, Carious teeth, Constricted iliac wing, Mandibular prognathia, Ovoid vertebral bodies, ...	OMIM:253000
Noonan Syndrome 13	Scoliosis, Broad eyebrow, Metatarsus adductus, Hypertrichosis, High palate, Mitral valve prolapse...	OMIM:619087
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Wide anterior fontanel, ...	ORPHA:3098
Optic Atrophy 3, Autosomal Dominant	Cataract, Hearing impairment, Optic atrophy, Optic disc pallor	OMIM:165300
Cohen Syndrome	Scoliosis, Open mouth, Iris coloboma, Aplasia/Hypoplasia of the tongue, Sandal gap, Slender toe, ...	ORPHA:193
Gyrate Atrophy Of Choroid And Retina	Abnormal macular morphology, Chorioretinal atrophy, Cataract, Chorioretinal degeneration, Hearing...	ORPHA:414
Achondroplasia	Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Obesity, Short proximal p...	ORPHA:15
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ...	ORPHA:364055
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Scoliosis, Multiple joint dislocation, Craniosynostosis, Narrow mouth, Sandal gap, Shoulder dislo...	OMIM:245600
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Frontal bossing, Micrognathia, Pes planus, Down-sloping shoulders, Lipod...	OMIM:616200
Fibrochondrogenesis 1	Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Posteri...	OMIM:228520
Distal Monosomy 6P	Hypertelorism, Underdeveloped nasal alae, Anterior synechiae of the anterior chamber, Posterior e...	ORPHA:96125
Leber Congenital Amaurosis 6	Attenuation of retinal blood vessels, Keratoconus, Cataract	OMIM:613826
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Disproportionate short stature, Dental crowding, Abnormal heart valve morphology, High palate, Ab...	ORPHA:2868
Pycnodysostosis	Scoliosis, Wormian bones, Delayed eruption of primary teeth, Carious teeth, Osteolytic defects of...	OMIM:265800
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Flexion contracture, Proptosis, Failure to thrive, Flattened epiphysis, Abnormalit...	ORPHA:157965
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Sensorin...	ORPHA:1473
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat	ORPHA:90160
Cohen Syndrome	Genu valgum, Cubitus valgus, Short philtrum, Short metatarsal, Facial hypotonia, Open mouth, Macr...	OMIM:216550
Acrocallosal Syndrome	Postaxial hand polydactyly, Hypertelorism, Wide anterior fontanel, Inguinal hernia, Prominent occ...	ORPHA:36
Saul-Wilson Syndrome	Platyspondyly, Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Proptosis, Short di...	OMIM:618150
Osteogenesis Imperfecta, Type Iii	Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Biconcave...	OMIM:259420
Cataract-Intellectual Disability-Hypogonadism Syndrome	Scoliosis, Hyperlordosis, Short philtrum, Tooth malposition, Low posterior hairline, Hypotelorism...	ORPHA:1387
Gillessen-Kaesbach-Nishimura Syndrome	Frontotemporal hypertrichosis, Hypertelorism, Wide anterior fontanel, Micrognathia, Flexion contr...	OMIM:263210
Mucopolysaccharidosis Type 4	Scoliosis, Carious teeth, Abnormal dental enamel morphology, Corneal opacity, Grayish enamel, Abn...	ORPHA:582
Mucopolysaccharidosis, Type Ivb	Scoliosis, Carious teeth, Constricted iliac wing, Mandibular prognathia, Ovoid vertebral bodies, ...	OMIM:253010
Multiple Synostoses Syndrome 3	Cutaneous syndactyly of toes, Humeroradial synostosis, Broad thumb, Hallux varus, Metacarpal syno...	OMIM:612961
Diamond-Blackfan Anemia 6	Triphalangeal thumb, Ventricular hypertrophy, Atrial septal defect, Hypertelorism, Ventricular se...	OMIM:612561
Nestor-Guillermo Progeria Syndrome	Scoliosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the anterio...	OMIM:614008
Brittle Cornea Syndrome	Osteoporosis, Decreased corneal thickness, Corneal erosion, Conductive hearing impairment, Joint ...	ORPHA:90354
Cornelia De Lange Syndrome	Thin vermilion border, Downturned corners of mouth, Elbow dislocation, Delayed puberty, Congenita...	ORPHA:199
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Wormian bones, Overtubulated long bones, Wide anterior fontanel, Thin calvarium, Curly hair, Prop...	ORPHA:85184
Peters Anomaly	Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract...	ORPHA:708
Uveal Melanoma	Inferior lens subluxation, Ocular hypertension, Mydriasis, Inflammatory abnormality of the eye, R...	ORPHA:39044
Chromosome 16Q22 Deletion Syndrome	Hip dysplasia, Wormian bones, Highly arched eyebrow, Hypertelorism, Wide anterior fontanel, Front...	OMIM:614541
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Hypoplasia of the radius, Lumbar platyspondyly, Short femur, Lytic defects of humeral diaphysis, ...	OMIM:601376
Cardiospondylocarpofacial Syndrome	Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, Abnormal f...	ORPHA:3238
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Progressive loss of facial adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue fro...	OMIM:613913
Marfanoid-Progeroid-Lipodystrophy Syndrome	Craniosynostosis, Mitral valve prolapse, High palate, High, narrow palate, Generalized lipodystro...	OMIM:616914
Aniridia 1	Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Ectopia lentis, Chori...	OMIM:106210
Growth Factors, Combined Defect Of	Pes planus, Lipodystrophy, Flexion contracture, Reduced subcutaneous adipose tissue, Plantar hype...	OMIM:233805
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Progressive flexion contractures, Macrotia, Proptosis, Cataract, Cerebral cortical atrophy, Protr...	OMIM:617481
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Corneal opacity, Cataract, Sensorineural hearing impairment, ...	ORPHA:90654
Axial Spondylometaphyseal Dysplasia	Hypertelorism, Short nose, Proptosis, Astigmatism, Optic atrophy, Anteverted nares, Rod-cone dyst...	ORPHA:168549
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive	OMIM:600121
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Anauxetic Dysplasia 3	Platyspondyly, Genu valgum, Hip subluxation, Squared iliac bones, Wide anterior fontanel, Midface...	OMIM:618853
Deafness-Hypogonadism Syndrome	Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd...	ORPHA:90646
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Long philtrum, Hypertelorism, Narrow mouth, Frontal bossing, Dental crowding, Midface retrusion, ...	OMIM:615539
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Acrogeria	Scoliosis, Lipoatrophy, Small hand, Short foot, Micrognathia, Fine hair	ORPHA:2500
Microphthalmia, Isolated 6	Retinal fold, Microcornea, Ocular hypertension	OMIM:613517
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Ventricular septal defect, Cataract, Iris atrophy, Absent anterior chamber of the ...	OMIM:259770
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Truncal obesity, Childhood-onset truncal obesity, Retinal dystrophy	OMIM:610156
Acromesomelic Dysplasia, Maroteaux Type	Scoliosis, Hyperlordosis, Disproportionate short stature, Frontal bossing, Abnormal form of the v...	ORPHA:40
Plin1-Related Familial Partial Lipodystrophy	Infertility, Oligomenorrhea, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Reduced su...	ORPHA:280356
Alpha-Mannosidosis	Scoliosis, Hip dysplasia, Open bite, Macroglossia, Hypertelorism, Narrow palate, Synostosis of jo...	ORPHA:61
Pelviscapular Dysplasia	Humeroradial synostosis, Short femur, Short neck, Congenital hip dislocation, Frontal bossing, Lo...	ORPHA:93333
X-Linked Intellectual Disability, Najm Type	Chorioretinal coloboma, Hypertelorism, Macrotia, Wide nasal bridge, Cataract, Cerebral cortical a...	ORPHA:163937
Osteogenesis Imperfecta, Type Viii	Scoliosis, Wormian bones, Platyspondyly, Radial bowing, Wide anterior fontanel, Externally rotate...	OMIM:610915
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Scoliosis, Congenital foot contractures, Arthrogryposis multiplex congenita, Scapular winging, Lu...	OMIM:602484
Intermediate Uveitis	Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti...	ORPHA:279914
Desbuquois Dysplasia 1	Scoliosis, Short metatarsal, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, Sandal...	OMIM:251450
Stickler Syndrome, Type I	Scoliosis, Platyspondyly, Beaking of vertebral bodies, Midface retrusion, Kyphosis, Pierre-Robin ...	OMIM:108300
Atelosteogenesis, Type Ii	Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short...	OMIM:256050
Gyrate Atrophy Of Choroid And Retina	Posterior subcapsular cataract, Chorioretinal atrophy	OMIM:258870
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small thenar eminence, Long philtrum, Small hypothenar eminence, Hypertelorism, Camptodactyly, In...	OMIM:211960
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat	ORPHA:90157
Brittle Cornea Syndrome 2	Keratoconus, Joint hypermobility, Decreased corneal thickness, Keratoglobus, Recurrent fractures,...	OMIM:614170
Mental Retardation, Autosomal Dominant 23	Scoliosis, Hyperlordosis, Broad distal phalanx of finger, Long philtrum, Low anterior hairline, D...	OMIM:615761
Vernal Keratoconjunctivitis	Scarring, Abnormal conjunctiva morphology, Punctate keratitis, Abnormal cornea morphology, Cornea...	ORPHA:70476
Winchester Syndrome	Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Corneal op...	OMIM:277950
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy, Ocular hypertension, Microcornea	OMIM:602499
Anauxetic Dysplasia 2	Hyperlordosis, Cubitus valgus, Macroglossia, Hypoplasia of the femoral head, Sparse hair, Midface...	OMIM:617396
Donnai-Barrow Syndrome	Hypertelorism, Short nose, Wide anterior fontanel, Iris coloboma, Omphalocele, Umbilical hernia, ...	ORPHA:2143
Hydrocephalus-Obesity-Hypogonadism Syndrome	Cubitus valgus, Short 4th metacarpal, Low posterior hairline, Sparse facial hair, Absent facial h...	ORPHA:2183
Neurofibromatosis, Type Ii	Peripheral Schwannoma, Vertigo, Bilateral vestibular Schwannoma, Retinal hamartoma, Epiretinal me...	OMIM:101000
Osteopathia Striata-Cranial Sclerosis Syndrome	Scoliosis, Large iliac wing, Large fontanelles, Spina bifida occulta, Abnormality of the metaphys...	ORPHA:2780
Otopalatodigital Syndrome, Type Ii	Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Short me...	OMIM:304120
Marfanoid Habitus With Situs Inversus	Scoliosis, Situs inversus totalis, Aortic regurgitation, Genu recurvatum, Mandibular prognathia, ...	OMIM:609008
Catel-Manzke Syndrome	Scoliosis, Camptodactyly of finger, Highly arched eyebrow, Atrial septal defect, Hypertelorism, V...	ORPHA:1388
Developmental And Epileptic Encephalopathy 73	Short nose, Flexion contracture, Cataract, Inguinal hernia, Sensorineural hearing impairment, Fai...	OMIM:618379
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph...	OMIM:112910
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip subluxation, Flattened femoral head, Short femoral neck, Hump-shaped mound of bone in central...	ORPHA:99642
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Short philtrum, Abnormality of the ribs, Short neck, Hypertelorism, Large fontanel...	ORPHA:93267
Central Core Disease	Congenital hip dislocation, Central core regions in muscle fibers, Pelvic girdle muscle weakness,...	ORPHA:597
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Joint laxity, Umbilical hernia, Proptosis, Posterior subcapsular cataract, Bilateral camptodactyl...	OMIM:619234
Cofs Syndrome	Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita,...	ORPHA:1466
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita, Limited wri...	OMIM:108145
Melnick-Needles Syndrome	Omphalocele, Coarse hair, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hyp...	OMIM:309350
Shprintzen-Goldberg Craniosynostosis Syndrome	Scoliosis, Craniosynostosis, Narrow palate, Camptodactyly, Metatarsus adductus, Mitral valve prol...	OMIM:182212
Alstrom Syndrome	Progressive sensorineural hearing impairment, Nephritis, Pigmentary retinopathy, Chronic active h...	OMIM:203800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal thumb morphology, Mandibular prognathia, Atrial flutter, Mitral regurgitation, Abnormal ...	ORPHA:324410
Becker Nevus Syndrome	Scoliosis, Abnormality of tibia morphology, Kyphosis, Lipoatrophy, Spina bifida occulta, Lower li...	ORPHA:64755
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Scoliosis, Platyspondyly, Hip dysplasia, Dislocated radial head, Abnormal vertebral morphology, A...	ORPHA:93359
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Scoliosis, Hyperlordosis, Genu valgum, Mild short stature, Metaphyseal irregularity, Ovoid verteb...	ORPHA:93315
Stiff Skin Syndrome	Camptodactyly, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture	OMIM:184900
Cutis Laxa, Autosomal Recessive, Type Iia	Scoliosis, Wide anterior fontanel, Frontal bossing, Congenital hip dislocation, Midface retrusion...	OMIM:219200
Acrofacial Dysostosis Syndrome Of Rodriguez	Oligodactyly, Hypertelorism, Wide anterior fontanel, Overlapping toe, Micrognathia, Deeply set ey...	OMIM:201170
Lipodystrophy, Familial Partial, Type 1	Lipodystrophy, Increased adipose tissue around the neck, Increased facial adipose tissue, Loss of...	OMIM:608600
Thanatophoric Dysplasia Type 1	Platyspondyly, Short femur, Wide anterior fontanel, Frontal bossing, Split hand, Kyphosis, Short ...	ORPHA:1860
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Low posterior hairline, Abnormal hair quantity, High palate, Abnormality of the metacarpal bones,...	ORPHA:2233
Dysostosis, Stanescu Type	Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened l...	ORPHA:1798
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Kyphosis, Lipodystrophy, Flexion contracture, Proptosis, Hypogonadism, Micrognathia	OMIM:615381
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract, Epiphyseal stippling, Hypertelorism, Prominent nose	OMIM:614882
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Irregularity of vertebral bodies, Talipes equinovarus, Frontal bossing, Short palm...	ORPHA:85172
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Hearing impairment, Peripheral axonal neuropathy, Decreased nerve cond...	ORPHA:101082
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal mitral valve morphology, Abnormal palate morphology, Mesomelia, Tooth agenesis, Abnormal...	ORPHA:1277
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Hypertelorism, Short nose, Choanal atresia, Proptosis, Cataract, Hearing im...	ORPHA:1914
Achondroplasia	Limited elbow extension, Frontal bossing, Midface retrusion, Trident hand, Rhizomelia, Lumbar kyp...	OMIM:100800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal ilium morphology, Craniosynostosis, Short phalanx of finger, Narrow mouth, Open mouth, A...	ORPHA:508533
Mucolipidosis Iv	Corneal opacity, Retinal degeneration, Cerebellar atrophy, Opacification of the corneal stroma, M...	OMIM:252650
Aniridia 3	Cataract	OMIM:617142
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation	Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Corneal opacity, Cataract, Protrudi...	OMIM:152950
Classical-Like Ehlers-Danlos Syndrome Type 2	Narrow palate, Elbow dislocation, Phalangeal dislocation, Pericardial effusion, Long uvula, Sanda...	ORPHA:536532
Limbal Stem Cell Deficiency	Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e...	ORPHA:171673
Loeys-Dietz Syndrome 4	Scoliosis, Protrusio acetabuli, Hypertelorism, Deeply set eye, High palate, Dolichocephaly, High,...	OMIM:614816
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Femoral-Facial Syndrome	Scoliosis, Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/...	ORPHA:1988
Fibrochondrogenesis	Camptodactyly of finger, Hypertelorism, Wide anterior fontanel, Abnormal form of the vertebral bo...	ORPHA:2021
Brachyolmia Type 1, Hobaek Type	Scoliosis, Short iliac bones, Kyphosis, Flattened proximal radial epiphyses, Back pain, Short lon...	OMIM:271530
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Recurrent respiratory infections, Microcornea, Corneal opacity	ORPHA:2432
Pseudoachondroplasia	Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab...	ORPHA:750
Cataract 1, Multiple Types	Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M...	OMIM:116200
Tibial Aplasia-Ectrodactyly Syndrome	Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo...	ORPHA:3329
Spondylometaphyseal Dysplasia, East African Type	Metaphyseal widening, Ovoid vertebral bodies, Short long bone, Coxa vara, Genu varum, Rounded epi...	OMIM:611702
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial instability, Spondylolysis, Ankle clonus, Os odontoideum, Lumbar hyperlordosis, Hand...	OMIM:600561
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat	ORPHA:90159
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Platyspondyly, Wide anterior fontanel, Shortening of all phalanges of fingers, Mes...	OMIM:601356
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Scoliosis, Carious teeth, Craniosynostosis, Multiple joint dislocation, Phalangeal dislocation, O...	ORPHA:536467
Exfoliation Syndrome	Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Asymmetry of i...	OMIM:177650
Cataract 20, Multiple Types	Cataract, Membranous cataract	OMIM:116100
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse hair, Abnormal eyelash morphology, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow, Sparse ...	ORPHA:1818
Smith-Kingsmore Syndrome	Short proximal phalanx of finger, Hypertelorism, Wide anterior fontanel, Frontal bossing, Midface...	OMIM:616638
Isolated Brachycephaly	Hypertelorism, Midface retrusion, Metacarpal synostosis, Proptosis, Brachycephaly, Brachydactyly	ORPHA:35099
Alport Syndrome	Recurrent bronchitis, Retinal flecks, Anterior lenticonus, Hypertension, Posterior subcapsular ca...	ORPHA:63
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Shagreen patch, Premature graying of hair, Abnormal hair quantity, Micrognathia, Kypho...	ORPHA:2617
Donnai-Barrow Syndrome	Proptosis, Hypertelorism, Short nose, Wide anterior fontanel, Iris coloboma, Omphalocele, Umbilic...	OMIM:222448
Dermatitis, Atopic	Keratoconus, Allergic rhinitis, Atopic dermatitis, Cataract, Conjunctivitis, Eczema, Recurrent sk...	OMIM:603165
Cerebellar-Facial-Dental Syndrome	Scoliosis, Sparse eyebrow, Abnormal T-wave, Alveolar ridge overgrowth, Mitral valve prolapse, Sho...	ORPHA:444072
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Nathalie Syndrome	Cataract, Sensorineural hearing impairment, Arrhythmia	ORPHA:2663
Acromesomelic Dysplasia, Hunter-Thompson Type	Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ...	OMIM:201250
Microtriplication 11Q24.1	Keratoconus, Hypertelorism, Attached earlobe, Posteriorly rotated ears, Hearing impairment, Micro...	ORPHA:289522
Caffey Disease	Scoliosis, Cellulitis, Periosteal thickening of long tubular bones, Cortical thickening of long b...	ORPHA:1310
Cardiac-Valvular Ehlers-Danlos Syndrome	Dental crowding, Pulmonary insufficiency, Tricuspid regurgitation, Sandal gap, Mitral valve prola...	ORPHA:230851
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas...	OMIM:221900
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy, Obesity	OMIM:615995
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Fatty Acyl-Coa Reductase 1 Deficiency	Hypertelorism, Short nose, Macrotia, Cerebellar atrophy, Progressive microcephaly, Juvenile catar...	ORPHA:438178
Lipodystrophy, Congenital Generalized, Type 3	Hirsutism, Lipodystrophy, Primary amenorrhea, Reduced subcutaneous adipose tissue, Generalized li...	OMIM:612526
Costello Syndrome	Keratoconus, Abnormal dental enamel morphology, Macroglossia, Narrow palate, Thickened Achilles t...	ORPHA:3071
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Hypergonadotropic hypogonadism, Down-sloping shoulders, Lipodystrophy, Short clavicles	OMIM:212112
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormal hair morphology, Palmoplantar keratoderma, Pes planus, Lipody...	ORPHA:1979
Atelosteogenesis Type Ii	Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ...	ORPHA:56304
Fg Syndrome Type 1	Craniosynostosis, Open mouth, Dental crowding, Pulmonary arterial hypertension, Mitral valve prol...	ORPHA:93932
Short Syndrome	Frontal bossing, Enlarged epiphyses, Midface retrusion, Deeply set eye, Lipodystrophy, Lipoatroph...	OMIM:269880
Membranoproliferative Glomerulonephritis, X-Linked	Lipodystrophy	OMIM:305800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Fibular Hemimelia	Craniosynostosis, Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of ...	ORPHA:93323
Osteolysis Syndrome, Recessive	Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange...	OMIM:259610
Microcephaly 10, Primary, Autosomal Recessive	Arthrogryposis multiplex congenita, Gliosis, Cerebral atrophy, Choanal atresia, Cataract, Cerebel...	OMIM:615095
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Leri-Weill Dyschondrosteosis	Scoliosis, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal morphol...	OMIM:127300
Spastic Paraparesis And Deafness	Hypogonadism, Cataract, Hearing impairment	OMIM:312910
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Hyperte...	OMIM:136760
Crouzon Disease	Convex nasal ridge, Hypertelorism, Narrow internal auditory canal, Conductive hearing impairment,...	ORPHA:207
Mandibuloacral Dysplasia With Type B Lipodystrophy	Osteolytic defects of the distal phalanges of the hand, Wormian bones, Acroosteolysis of distal p...	OMIM:608612
Shprintzen-Goldberg Syndrome	Scoliosis, Craniosynostosis, Elbow dislocation, Abnormality of the metaphysis, Mitral valve prola...	ORPHA:2462
Desbuquois Syndrome	Scoliosis, Camptodactyly of finger, Abnormal femoral neck/head morphology, Radioulnar synostosis,...	ORPHA:1425
Nemaline Myopathy 3	Scoliosis, Hyperlordosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type ...	OMIM:161800
Warburg-Cinotti Syndrome	Decreased corneal thickness, Hypoplasia of the ear cartilage, Underdeveloped nasal alae, Flexion ...	OMIM:618175
Familial Isolated Dilated Cardiomyopathy	Lipoatrophy, Palmoplantar keratoderma	ORPHA:154
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Three M Syndrome 1	Mandibular prognathia, Postnatal growth retardation, Spina bifida occulta, Short neck, Hyperlordo...	OMIM:273750
Bilateral Striopallidodentate Calcinosis	Microcephaly, Subcutaneous hemorrhage, Corneal opacity	ORPHA:1980
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Toe cli...	ORPHA:457395
Léri-Weill Dyschondrosteosis	Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn...	ORPHA:240
20P13 Microdeletion Syndrome	Highly arched eyebrow, Hypertelorism, Wide anterior fontanel, Finger syndactyly, Polydactyly, Dee...	ORPHA:313781
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypertelorism, Sparse hair, Deeply set eye, Lipoatrophy, Failure to thrive, Aplasia/Hypoplasia of...	ORPHA:261304
Rhizomelic Syndrome	Wide anterior fontanel, Rhizomelia, Complete duplication of thumb phalanx, Bifid distal phalanx o...	OMIM:268250
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Joint hypermobility, Gliosis, Tarsal sclerosis, Cone/cone-rod dystrophy, Small for gestational ag...	ORPHA:404454
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Humeroradial synostosis, Lambdoidal craniosynostosis, Wide anterior fontanel,...	OMIM:207410
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Frontal bossing, Midface retrusion, Rhizomelia, Hypoplastic scapulae, Micrognathia, ...	ORPHA:440354
Spondylodysplastic Ehlers-Danlos Syndrome	Joint hypermobility, Optic disc coloboma, Iris coloboma, Corneal opacity, Megalocornea, Increased...	ORPHA:536471
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Dilated cardiomyopathy,...	OMIM:300718
Pycnodysostosis	Wormian bones, Narrow palate, Persistent open anterior fontanelle, Short distal phalanx of finger...	ORPHA:763
Stickler Syndrome	Scoliosis, Open bite, Abnormal dental enamel morphology, Skeletal muscle atrophy, Mitral valve pr...	ORPHA:828
Acrofrontofacionasal Dysostosis 2	Broad thumb, Wide anterior fontanel, Hand polydactyly, Hypertelorism, Widow's peak, Sacral dimple...	OMIM:239710
Mucolipidosis Iii Gamma	Scoliosis, Genu valgum, Hyperlordosis, Aortic regurgitation, Flared iliac wing, Kyphosis, Aortic ...	OMIM:252605
Carpenter Syndrome 1	Scoliosis, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Omphalocele, Metatarsus...	OMIM:201000
Neurofibromatosis Type 2	Neuroma, Remnants of the hyaloid vascular system, Peripheral Schwannoma, Bilateral vestibular Sch...	ORPHA:637
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Scoliosis, Camptodactyly of finger, Hyperlordosis, Biparietal narrowing, Narrow palate, Narrow mo...	ORPHA:1323
Kleeblattschaedel	Craniosynostosis, Elbow ankylosis, Proptosis, Recurrent corneal erosions	OMIM:148800
Isolated Optic Nerve Hypoplasia/Aplasia	Chorioretinal coloboma, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, P...	ORPHA:137902
Wagner Vitreoretinopathy	Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera...	OMIM:143200
Lipase Deficiency, Combined	Lipodystrophy	OMIM:246650
Insulin-Like Growth Factor I, Resistance To	Highly arched eyebrow, Deeply set eye, Lipodystrophy, Decreased body weight, Sandal gap, Radial d...	OMIM:270450
Myopathy, Congenital, With Tremor	Scoliosis, EMG: myopathic abnormalities, Scapular winging, Narrow mouth, Flexion contracture, Lum...	OMIM:618524
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 18	Cataract	OMIM:610019
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Abdominal obesity	OMIM:615980
Spondyloepiphyseal Dysplasia Congenita	Scoliosis, Flat acetabular roof, Small epiphyses, Short femoral neck, Micrognathia, Short neck, G...	ORPHA:94068
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Palmoplantar cutis gyrata, Atrophic scars, Atypical scarring of skin, Lipodystrophy, Flexion cont...	ORPHA:75496
Spastic Paraparesis-Deafness Syndrome	Cataract, Hypogonadism, Sensorineural hearing impairment	ORPHA:2815
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Iris coloboma, Sensorineural hearing impairment, Microcornea, Anterior syn...	ORPHA:3214
Mucous Membrane Pemphigoid	Atypical scarring of skin, Corneal opacity	ORPHA:46486
3M Syndrome	Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Abnormality of the elbo...	ORPHA:2616
Short Syndrome	Abnormal dental enamel morphology, Hypertelorism, Joint hyperflexibility, Deeply set eye, Posteri...	ORPHA:3163
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Oligomenorrhea	OMIM:613877
Pseudodiastrophic Dysplasia	Scoliosis, Platyspondyly, Short neck, Frontal bossing, Elbow dislocation, Midface retrusion, Phal...	OMIM:264180
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization,...	OMIM:617388
Langer Mesomelic Dysplasia	Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Hypoplasia of the ulna, Mesomelia, L...	OMIM:249700
Craniofacial Dysostosis With Diaphyseal Hyperplasia	Massively thickened long bone cortices, Thin calvarium, Limb undergrowth, Proptosis, Brachycephal...	OMIM:122900
Corneal Dystrophy, Posterior Polymorphous, 1	Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ...	OMIM:122000
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scoliosis, Tricuspid regurgitation, Flat acetabular roof, Patent foramen ovale, Clinodactyly of t...	OMIM:618870
Isolated Cloverleaf Skull Syndrome	Craniosynostosis, Finger syndactyly, Midface retrusion, Abnormal form of the vertebral bodies, Pr...	ORPHA:2343
Campomelic Dysplasia	Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Wide ant...	OMIM:114290
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteolytic defects of the distal phalanges of the hand, Wormian bones, Acroosteolysis of distal p...	OMIM:248370
Gómez-López-Hernández Syndrome	Low-set ears, Hypertelorism, Anteverted nares, Corneal opacity	ORPHA:1532
Myopathic Ehlers-Danlos Syndrome	Scoliosis, Congenital muscular torticollis, High, narrow palate, Micrognathia, Elbow flexion cont...	ORPHA:536516
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal opacity, Corneal dystrophy	OMIM:300779
Keppen-Lubinsky Syndrome	Scoliosis, Flexion contracture, Absence of subcutaneous fat, Proptosis, Failure to thrive, Microg...	OMIM:614098
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal femoral neck/head morphology, Abnormal hip joint morphology, Abnormality of the elbow, A...	ORPHA:85438
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hirsutism, Iris coloboma, Omphalocele, Double outlet right ventricle, Mitral valve prolapse, Scle...	ORPHA:371428
Atelosteogenesis, Type I	Short metatarsal, Thoracic platyspondyly, Multinucleated giant chondrocytes in epiphyseal cartila...	OMIM:108720
Progressive Pseudorheumatoid Arthropathy Of Childhood	Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho...	ORPHA:1159
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Flexion contracture, Cerebral atrophy, Cataract, Failure to thrive, Broad nasal tip, Microcephaly	OMIM:617393
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap...	ORPHA:174
Acromesomelic Dysplasia, Grebe Type	Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon...	ORPHA:2098
Jaberi-Elahi Syndrome	Joint hypermobility, Short nose, Low-set ears, Cataract, Cerebellar atrophy, Protruding ear, Join...	OMIM:617988
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hyperlordosis, Hip dysplasia, Hand muscle weakness, Congenital foot contraction deformities, Flex...	ORPHA:363454
Idiopathic Panuveitis	Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina...	ORPHA:280921
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Anteverted nares, Optic disc hypoplasia, Short nasal bridge, Hearing impairment, Pro...	ORPHA:401777
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Hypertelorism, Frontal bossing, Midface retrusion, Thickened calvaria, Mesomelia, Um...	OMIM:616331
Larsen-Like Syndrome	Hypertelorism, Wide anterior fontanel, Frontal bossing, Radial deviation of the 4th finger, Brach...	OMIM:608545
Woolly Hair	Cataract, Abnormal retinal morphology, Abnormal pupil morphology	ORPHA:170
Lipodystrophy, Familial Partial, Type 5	Lipodystrophy	OMIM:615238
Marfan Syndrome	Scoliosis, Narrow palate, Dental crowding, Camptodactyly, Tricuspid regurgitation, Metatarsus add...	OMIM:154700
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Ocular anterior segment dysgenesis, Hearing impairment, Peters anomaly, Ocular hyp...	OMIM:610023
Myotonic Dystrophy 2	Palpitations, Oligospermia, Tachycardia, Hypogonadism, Iridescent posterior subcapsular cataract	OMIM:602668
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Lipodystrophy, Absence of subcutaneous fat, Decreased adipose ti...	OMIM:606721
Mucopolysaccharidosis, Type Vii	Scoliosis, Hirsutism, Corneal opacity, Postnatal growth retardation, Anterior beaking of lumbar v...	OMIM:253220
Cornea Plana 2, Autosomal Recessive	Flat cornea, Decreased corneal thickness, Corneal arcus	OMIM:217300
Martsolf Syndrome 1	Short phalanx of finger, Slender ulna, Metatarsus adductus, Cardiac arrest, Broad fingertip, High...	OMIM:212720
Lateral Meningocele Syndrome	Scoliosis, Wormian bones, Dental crowding, Iris coloboma, High palate, High, narrow palate, Short...	ORPHA:2789
Xeroderma Pigmentosum, Complementation Group D	Cataract, Conjunctivitis, Keratoconjunctivitis sicca, Keratitis, Sensorineural hearing impairment...	OMIM:278730
Coenzyme Q10 Deficiency, Primary, 7	Scoliosis, Hypoplastic left heart, Intrauterine growth retardation, Bradycardia, Hypertrophic car...	OMIM:616276
Mucopolysaccharidosis, Type Vi	Metaphyseal irregularity, Flared iliac wing, Split hand, Ovoid vertebral bodies, Hirsutism, Anter...	OMIM:253200
Apolipoprotein A-I Deficiency	Corneal opacity	ORPHA:425
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Limited elbow extension, Hypertelorism, Bulbous nose, Laryngotracheomalacia, Short nose, Delayed ...	OMIM:271510
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Abnormality of dental morphology, Kyphosis, Proptosis, Abnormal hip bo...	ORPHA:2522
Congenital Rubella Syndrome	Skin rash, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, ...	ORPHA:290
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hypertrophic cardiomyopathy	ORPHA:79281
Atelosteogenesis Type I	Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Metatropic Dysplasia	Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Kyphosi...	OMIM:156530
Stuve-Wiedemann Syndrome	Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Short neck, Elbow flexion ...	OMIM:601559
Gapo Syndrome	Keratoconus, Hypertelorism, Amenorrhea, Oligospermia, Joint hyperflexibility, Choanal atresia, Th...	ORPHA:2067
Fragile X Syndrome	Scoliosis, Mitral valve prolapse, Mandibular prognathia	OMIM:300624
Ceroid Lipofuscinosis, Neuronal, 3	Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Concentric hypertrophic ca...	OMIM:204200
Mesomelic Dysplasia, Savarirayan Type	Dislocated radial head, Delayed closure of the anterior fontanelle, Talipes equinovalgus, Mesomel...	OMIM:605274
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Glaucoma 3, Primary Congenital, E	Megalocornea, Ocular hypertension	OMIM:617272
Cardiomyopathy, Familial Hypertrophic, 21	Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy	OMIM:614676
Atrial Standstill	Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,...	ORPHA:1344
Turnpenny-Fry Syndrome	Facial hypotonia, Narrow mouth, Dental crowding, Mandibular prognathia, Torticollis, Mitral valve...	OMIM:618371
Infantile Spasms-Broad Thumbs Syndrome	Convex nasal ridge, Hypertelorism, Cataract, Cerebral cortical atrophy, EEG abnormality, Microcep...	ORPHA:3173
Sialidosis Type 2	Osteoporosis, Abnormal macular morphology, Flexion contracture, Corneal opacity, Umbilical hernia...	ORPHA:87876
Aarskog-Scott Syndrome	Oral cleft, Megalocornea, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, ...	ORPHA:915
Cataract-Microcornea Syndrome	Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy	ORPHA:1377
Nemaline Myopathy 2	Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Narrow mouth, Skelet...	OMIM:256030
Czech Dysplasia	Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na...	OMIM:609162
Melnick-Needles Syndrome	Scoliosis, Omphalocele, Short distal phalanx of finger, Short clavicles, Abnormality of the metap...	ORPHA:2484
Aldh18A1-Related De Barsy Syndrome	Cataract, Joint hyperflexibility	ORPHA:35664
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Foot oligodactyly, Omphalocele, Amelia	OMIM:601357
Aredyld Syndrome	Scoliosis, Abnormal dental enamel morphology, Craniofacial hyperostosis, Lipoatrophy, Cachexia, A...	ORPHA:1133
Neuronopathy, Distal Hereditary Motor, Type Viii	Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l...	OMIM:600175
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Delayed pubic bone ossification, Club-shape...	OMIM:184250
Cataract, Ataxia, Short Stature, And Mental Retardation	Posterior subcapsular cataract	OMIM:300619
Ritscher-Schinzel Syndrome 3	Shortening of all distal phalanges of the fingers, Highly arched eyebrow, Epiphyseal stippling, H...	OMIM:619135
Kniest Dysplasia	Conductive hearing impairment, Recurrent otitis media, Tracheomalacia, Umbilical hernia, Proptosi...	OMIM:156550
Camurati-Engelmann Disease, Type 2	Mitral valve prolapse, Delayed puberty, Thoracolumbar scoliosis, Knee flexion contracture, Skelet...	OMIM:606631
Weill-Marchesani Syndrome 1	Scoliosis, Narrow palate, Proportionate short stature, Broad phalanges of the hand, Shallow orbit...	OMIM:277600
Hypochondroplasia	Scoliosis, Hyperlordosis, Short toe, Childhood onset short-limb short stature, Abnormal form of t...	ORPHA:429
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thin vermilion border, Thoracic kyphosis, Metatarsus adductus, High palate, Patellar subluxation,...	ORPHA:3041
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wormian bones, Platyspondyly, Short femur, Hypertelorism, Micrognathia, Flexion contracture, Addu...	OMIM:616897
Jackson-Weiss Syndrome	Short metatarsal, Toe syndactyly, Frontal bossing, Hypertelorism, Midface retrusion, Broad hallux...	ORPHA:1540
Corneal Dystrophy, Congenital Stromal	Increased corneal thickness, Congenital corneal dystrophy	OMIM:610048
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hyperlordosis, Hip dysplasia, Scapular winging, Spinal muscular atrophy, Achilles tendon contract...	OMIM:615290
Hunter-Macdonald Syndrome	Scoliosis, Large fontanelles, Camptodactyly, Pseudoepiphyses, Metatarsus adductus, Mitral valve p...	OMIM:611962
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Camptodactyly, Kyphosis, Short thumb, Clinodactyly of the 5th finger	OMIM:618453
Ehlers-Danlos Syndrome, Classic Type, 1	Cigarette-paper scars, Irregularly spaced teeth, Hyperextensibility of the knee, Recurrent sinusi...	OMIM:130000
Joint Laxity, Short Stature, And Myopia	Chorioretinal coloboma, Iris coloboma, Proptosis, Hearing impairment, Retinal detachment, Osteopenia	OMIM:617662
Zellweger Syndrome	Abnormal chorioretinal morphology, Brushfield spots, Epiphyseal stippling, Wide anterior fontanel...	ORPHA:912
Vitreoretinochoroidopathy	Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ...	OMIM:193220
Oculoauricular Syndrome	Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Scler...	OMIM:612109
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Squared iliac bones, Lumbar platyspondyly, Hypertelorism, Beaking of vertebral bodies, Limb under...	OMIM:618961
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Back pain, Ach...	ORPHA:98855
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, Corneal opacity,...	ORPHA:585
Pierpont Syndrome	Hypertelorism, Short nose, Abnormal peripheral nervous system morphology, Deeply set eye, Decreas...	OMIM:602342
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo...	OMIM:618728
Scheie Syndrome	Aortic regurgitation, Corneal opacity, Retinal degeneration, Aortic valve stenosis, Wide nose, De...	OMIM:607016
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia, Wide anterior fontanel	OMIM:275100
Osteogenesis Imperfecta	Scoliosis, Wormian bones, Abnormal dental enamel morphology, Carious teeth, Abnormality of long b...	ORPHA:666
Neurogenic Arthrogryposis Multiplex Congenita	Scoliosis, Rocker bottom foot, Hypertelorism, Abnormal heart morphology, Micrognathia, Flexion co...	ORPHA:1143
Anterior Segment Dysgenesis 8	Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir...	OMIM:617319
Andersen Cardiodysrhythmic Periodic Paralysis	Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Clinodactyl...	OMIM:170390
Ck Syndrome	Scoliosis, Hyperlordosis, Dental crowding, Kyphosis, Abnormal digit morphology, High palate, Retr...	OMIM:300831
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Scoliosis, Hyperlordosis, Genu valgum, Thin vermilion border, Long philtrum, Congenital hip dislo...	OMIM:616007
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Chorioretinal coloboma, Iris coloboma	OMIM:616428
Trichorhinophalangeal Syndrome, Type I	Scoliosis, Carious teeth, Short metatarsal, Narrow palate, Leukonychia, Ivory epiphyses of the di...	OMIM:190350
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Wide anterior fontanel, Frontal bossing, Deeply set eye, Long eyelashes, Failure to thrive in inf...	OMIM:619064
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose, Deeply set eye, Corneal opacity, Cataract, Cerebellar atrophy, Optic nerve hypoplasia...	ORPHA:496790
Papillorenal Syndrome	Gliosis, Joint laxity, Lens luxation, Retinal coloboma, Chorioretinal atrophy, Morning glory anom...	OMIM:120330
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental enamel morphology, Tarsal synostosis, Wide anterior fontanel, Frontal bossing, Ab...	ORPHA:85199
Autism Spectrum Disorder Due To Auts2 Deficiency	Scoliosis, Highly arched eyebrow, Arthrogryposis multiplex congenita, Hypertelorism, Kyphosis, Jo...	ORPHA:352490
Hallermann-Streiff Syndrome	Scoliosis, Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth, Proportionate short...	OMIM:234100
Robinow Syndrome, Autosomal Recessive 1	Scoliosis, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Short digit, Short neck,...	OMIM:268310
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Scoliosis, Hyperlordosis, Cataract, Spinal rigidity, Increased adipose tissue, Short stature	OMIM:617404
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Filippi Syndrome	Underdeveloped nasal alae, Decreased body weight, Wide nasal bridge, Postnatal growth retardation...	OMIM:272440
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Developmental cataract, Flexion contracture, Corneal opacity, Dilated cardiomyopathy, Bradycardia...	OMIM:618815
Myosclerosis, Autosomal Recessive	Restricted neck movement due to contractures, Increased connective tissue, Achilles tendon contra...	OMIM:255600
Erythrokeratodermia Variabilis	Skin rash, Corneal opacity, Weight loss, Cataract, Hearing impairment, Protruding ear, Microcephaly	ORPHA:317
Proteus-Like Syndrome	Shagreen patch, Subcutaneous lipoma, Heterochromia iridis, Anteverted nares, Bronchogenic cyst, C...	ORPHA:2969
Atelosteogenesis, Type Iii	Scoliosis, Cervical segmentation defect, Elbow dislocation, Hitchhiker thumb, Sandal gap, Flat ac...	OMIM:108721
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe...	OMIM:147891
Chondrodysplasia Punctata 1, X-Linked Recessive	Epiphyseal stippling, Short nose, Anosmia, Cataract, Hearing impairment, Microcephaly, Hypogonadi...	OMIM:302950
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Flat distal femoral epiphysis, Platyspondyly, Irregularity of vertebral bodies, Genu valgum, Prox...	OMIM:609324
Keratoconus Posticus Circumscriptus	Keratoconus, Hypertelorism, Central posterior corneal opacity, Limited elbow extension and supina...	OMIM:244600
Mucoepithelial Dysplasia, Hereditary	Recurrent pneumonia, Pneumonia, Melena, Cataract, Opacification of the corneal stroma, Corneal ne...	OMIM:158310
Chops Syndrome	Hypertelorism, Short nose, Proptosis, Laryngomalacia, Cataract, Hearing impairment, Aspiration pn...	OMIM:616368
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Chorioretinal dysplasia, Cerebral atrophy, Retinal dystrophy...	OMIM:251270
Rigid Spine Syndrome	Scoliosis, Hyperlordosis, Cardiac conduction abnormality, Spinal rigidity, Skeletal muscle atroph...	ORPHA:97244
Otospondylomegaepiphyseal Dysplasia	Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi...	ORPHA:1427
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair	Craniosynostosis, Hypertelorism, Sparse eyebrow, Sparse hair, Ventricular septal defect, Abnormal...	OMIM:616901
Lowry-Maclean Syndrome	Craniosynostosis, Downturned corners of mouth, Corneal opacity, Small anterior fontanelle, Megalo...	ORPHA:2409
Hemimegalencephaly	Interictal EEG abnormality, Gliosis, Hemihypsarrhythmia, EEG with burst suppression, EEG with pol...	ORPHA:99802
Dyggve-Melchior-Clausen Disease	Scoliosis, Short metatarsal, Thoracic kyphosis, Mandibular prognathia, Camptodactyly, Carpal bone...	OMIM:223800
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Corneal opacity, Sensorineural hearing impairment, Hernia, Rh...	ORPHA:93476
Musculocontractural Ehlers-Danlos Syndrome	Scoliosis, Arthrogryposis multiplex congenita, Craniosynostosis, Narrow mouth, Large fontanelles,...	ORPHA:2953
Uruguay Faciocardiomusculoskeletal Syndrome	Scoliosis, Ventricular hypertrophy, Congenital hip dislocation, Dislocation of toes, Camptodactyl...	OMIM:300280
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Scoliosis, Platyspondyly, Genu valgum, Thoracic kyphosis, Irregular vertebral endplates, Lumbar h...	OMIM:609223
X-Linked Dominant Chondrodysplasia Punctata	Hip dysplasia, Abnormality of hair texture, Frontal bossing, Abnormal vertebral morphology, Abnor...	ORPHA:35173
Neonatal Marfan Syndrome	Abnormal echocardiogram, High, narrow palate, Mitral regurgitation, Flexion contracture, Lipoatro...	ORPHA:284979
Chondrodysplasia With Joint Dislocations, Gpapp Type	Genu valgum, Short metacarpal, Short foot, Proptosis, Short toe, Patellar dislocation, Micrognath...	OMIM:614078
Marden-Walker Syndrome	Scoliosis, Hypertelorism, Wide anterior fontanel, Radioulnar synostosis, Micrognathia, Camptodact...	OMIM:248700
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis, Abnormality of epiphysis morphology, Cataract, Lower limb undergrowth, ...	ORPHA:2310
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Delayed closure of the anterior fontanelle, Short phalanx of finger, Wide anterior fontanel, Hirs...	OMIM:225410
Pfeiffer Syndrome	Hyperlordosis, Hip dysplasia, Short philtrum, Broad thumb, Hypertelorism, Open mouth, Synostosis ...	ORPHA:710
Lipodystrophy, Familial Partial, Type 3	Oligomenorrhea, Lipodystrophy, Hirsutism, Primary amenorrhea, Loss of gluteal subcutaneous adipos...	OMIM:604367
X-Linked Emery-Dreifuss Muscular Dystrophy	Scoliosis, Hyperlordosis, Short neck, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Ba...	ORPHA:98863
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Osteoporosis, Joint laxity, Abnormal vitreous humor morphology, Corn...	ORPHA:2788
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Scoliosis, Biconcave vertebral bodies, Dental crowding, High palate, Ectopia lentis, Myocardial i...	OMIM:236200
Heart Defects-Limb Shortening Syndrome	Abnormality of the ribs, Atrial septal defect, Disproportionate short stature, Ventricular septal...	ORPHA:1354
Norrie Disease	Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t...	OMIM:310600
Ectopia Lentis Et Pupillae	Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment	OMIM:225200
Three M Syndrome 2	Hyperlordosis, Delayed eruption of teeth, Prominent calcaneus, Long philtrum, Scapular winging, F...	OMIM:612921
Acrocapitofemoral Dysplasia	Scoliosis, Hyperlordosis, Flared iliac wing, Ovoid vertebral bodies, Short palm, Cone-shaped epip...	ORPHA:63446
Pelvis-Shoulder Dysplasia	Iris coloboma, Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk short stature, Micr...	ORPHA:2839
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypertelorism, Wide anterior fontanel, Midface retrusion, Failure to thrive in infancy, Small for...	OMIM:617241
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities	Hypertelorism, Umbilical hernia, Proptosis, Megalocornea, Inguinal hernia, Broad nasal tip, Macro...	OMIM:618354
22Q11.2 Deletion Syndrome	Small earlobe, Abnormal dental enamel morphology, Seborrheic dermatitis, Bulbous nose, Overfolded...	ORPHA:567
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	EMG: myopathic abnormalities, Hip subluxation, Wrist drop, Trigonocephaly, Mitral valve prolapse,...	ORPHA:1900
Muenke Syndrome	Low anterior hairline, Broad thumb, Short middle phalanx of toe, Hypertelorism, Midface retrusion...	OMIM:602849
Myopathy, Tubular Aggregate, 1	Flexion contracture, Abnormal pupil morphology	OMIM:160565
Retinopathy, Pigmentary, And Mental Retardation	Joint hypermobility, Pigmentary retinopathy, Cataract, Truncal obesity, Microcephaly, Hypogonadism	OMIM:268050
Wieacker-Wolff Syndrome	Scoliosis, Arthrogryposis multiplex congenita, Camptodactyly, High palate, Short neck, Micrognath...	OMIM:314580
Schwartz-Jampel Syndrome, Type 1	Pursed lips, Congenital hip dislocation, Narrow mouth, Long eyelashes in irregular rows, Wrist fl...	OMIM:255800
Oculodentodigital Dysplasia, Autosomal Recessive	Abnormal dental enamel morphology, Thin vermilion border, Hypoplasia of teeth, Large fontanelles,...	OMIM:257850
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Hypertelorism, Abnormal mitral valve morphology, Mandibular progna...	ORPHA:1919
Lethal Faciocardiomelic Dysplasia	Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap...	ORPHA:1972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Scoliosis, Hyperlordosis, Macroglossia, Open mouth, Left ventricular systolic dysfunction, Congen...	OMIM:613156
Trichorhinophalangeal Syndrome Type 1 And 3	Scoliosis, Short metatarsal, Leukonychia, Short distal phalanx of finger, High palate, Micrognath...	ORPHA:77258
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract, Microcephaly	OMIM:615412
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Hypertelorism, Sparse eyebrow, Widow's peak, Abnormal eyelash morphology, Con...	ORPHA:2399
Fragile X Syndrome	Mitral valve prolapse, Mandibular prognathia, Frontal bossing, Sinusitis	ORPHA:908
Retinopathy Of Prematurity	Abnormal macular morphology, Tractional retinal detachment, Small for gestational age, Abnormal r...	ORPHA:90050
Tetralogy Of Fallot	Dolichocephaly, Clinodactyly of the 5th finger, Brachydactyly, Proptosis	ORPHA:3303
Hereditary Sensory And Autonomic Neuropathy Type 2	Hyperlordosis, Wormian bones, Abnormality of the knee, Foot acroosteolysis, Abnormality of epiphy...	ORPHA:970
3C Syndrome	Scoliosis, Iris coloboma, Postnatal growth retardation, Hemivertebrae, Oral cleft, High, narrow p...	ORPHA:7
Noonan Syndrome 10	Scoliosis, Cubitus valgus, Atrial septal defect, Hypertelorism, Prominent corneal nerve fibers, S...	OMIM:616564
Cone-Rod Dystrophy 16	Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:614500
Neu-Laxova Syndrome 2	Scoliosis, Rocker bottom foot, Short neck, Hypertelorism, Cleft palate, Intrauterine growth retar...	OMIM:616038
Mitral Valve Prolapse 1	Reversed usual vertebral column curves, High palate, High, narrow palate, Mitral valve prolapse, ...	OMIM:157700
Autosomal Recessive Centronuclear Myopathy	Hyperlordosis, Scapular winging, Narrow mouth, Abnormal heart valve morphology, High palate, Cent...	ORPHA:169186
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Biparietal narrowing, Corneal opacity, EEG abnormality, Micr...	ORPHA:578
8P11.2 Deletion Syndrome	Atrial septal defect, Hypertelorism, Supernumerary ribs, High palate, Growth delay, Iris coloboma...	ORPHA:251066
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the upper limbs, Atrioventricular canal defect, Abnormality...	ORPHA:40366
Primary Non-Essential Cutis Verticis Gyrata	Microcephaly, Developmental cataract, Gliosis, Keloids	ORPHA:357225
Weill-Marchesani Syndrome 2	Scoliosis, Short metatarsal, Narrow palate, Proportionate short stature, Lens luxation, High pala...	OMIM:608328
Temtamy Preaxial Brachydactyly Syndrome	Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ...	ORPHA:363417
Bartsocas-Papas Syndrome 2	Axillary pterygium, Wide anterior fontanel, Corneal opacity, Bilateral cleft lip and palate, Smal...	OMIM:619339
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Adult onset sensorineural hearing impairment, Cataract, Optic atrophy, Sensory axonal neuropathy	ORPHA:329314
Lujan-Fryns Syndrome	Scoliosis, Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Abnorm...	ORPHA:776
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Hyperlordosis, Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, M...	ORPHA:267
Warburg Micro Syndrome 2	Developmental cataract, Asymmetry of the ears, Short nose, Macrotia, Global brain atrophy, Flexio...	OMIM:614225
Lethal Osteosclerotic Bone Dysplasia	Mandibular aplasia, Median cleft lip and palate, Short neck, Gingival fibromatosis, Large fontane...	ORPHA:1832
Kniest Dysplasia	Flexion contracture of finger, Laryngotracheomalacia, Lens luxation, Abnormal bone structure, Lat...	ORPHA:485
Juvenile Glaucoma	Retinal vein occlusion, Abnormality iris morphology, Temporal optic disc pallor, Abnormality of t...	ORPHA:98977
Marfan Syndrome	Scoliosis, Open bite, Dental crowding, Lens luxation, Skeletal muscle atrophy, Arthralgia/arthrit...	ORPHA:558
Palmoplantar Carcinoma, Multiple Self-Healing	Limbal stem cell deficiency, Finger joint hypermobility, Corneal neovascularization	OMIM:615225
Lethal Kniest-Like Dysplasia	Platyspondyly, Wide anterior fontanel, Coronal cleft vertebrae, Abnormality of the ischium, Mesom...	ORPHA:2347
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Short m...	OMIM:156510
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia, Developmental cataract, Progressive cataract	OMIM:246000
Oculocerebrodental Syndrome	Enamel hypoplasia, Scoliosis, Hyperlordosis, Developmental cataract, Oligodontia, Thoracic kyphos...	ORPHA:557003
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Chorioretinal coloboma, Abnormality of the antihelix, Hypoplasia of the antihelix, Cataract, Hear...	ORPHA:2489
Tetrasomy 5P	Short hallux, Hypertelorism, Wide anterior fontanel, Overlapping toe, Midface retrusion, Microgna...	ORPHA:3309
Emery-Dreifuss Muscular Dystrophy	Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Back pain, Ach...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Back pain, Ach...	ORPHA:98853
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Congenital Sialidosis Type 2	Respiratory tract infection, Developmental cataract, Yellow/white lesions of the retina, Corneal ...	ORPHA:93400
Flynn-Aird Syndrome	Progressive sensorineural hearing impairment, Osteoporosis, Increased bone density with cystic ch...	OMIM:136300
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Hypertelorism, Congenital hip dislocation,...	ORPHA:2412
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hyperlordosis, EMG: myopathic abnormalities, Abnormality of long bone morphology, Abnormality of ...	ORPHA:52430
Hurler Syndrome	Flared iliac wing, Hirsutism, Corneal opacity, Short clavicles, Short neck, Cardiomyopathy, Flexi...	OMIM:607014
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly, Hypertelorism	OMIM:300484
Mulchandani-Bhoj-Conlin Syndrome	Scoliosis, Hyperlordosis, 2-3 toe syndactyly, Dolichocephaly, Severe short stature, Clinodactyly,...	OMIM:617352
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Corneal opacity, Pneumonia, Subcortical cerebral atrophy, Cataract, Cerebra...	ORPHA:309288
Macular Dystrophy, Corneal	Corneal dystrophy, Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal ero...	OMIM:217800
Gm1 Gangliosidosis	Scoliosis, Narrow mouth, Mandibular prognathia, Hirsutism, Corneal opacity, Abnormality of the me...	ORPHA:354
Cardiac Valvular Dysplasia, X-Linked	Hypertelorism, Aortic regurgitation, Thick vermilion border, Tricuspid regurgitation, Short chord...	OMIM:314400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia, Male hypogonadism, Iridocyclitis, Perifoveal ring of hyperautofluorescence, Pi...	OMIM:240300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Retinal dysplasia, Cataract, Optic atrophy, Flexion contracture	OMIM:613154
Thoracomelic Dysplasia	Hyperlordosis, Genu valgum, Disproportionate short-limb short stature, Low posterior hairline, El...	ORPHA:1803
Osteogenesis Imperfecta, Type I	Otosclerosis, Wormian bones, Mitral valve prolapse, Dentinogenesis imperfecta, Biconcave flattene...	OMIM:166200
Congenital Contractural Arachnodactyly	Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, High palate, Flexion cont...	ORPHA:115
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypertelorism, Rieger anomaly, Proptosis, Sensorineural hearing impairment, Abnormal auditory evo...	OMIM:109120
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Back pain, Iris coloboma, Lum...	OMIM:169550
Sjogren-Larsson Syndrome	Enamel hypoplasia, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the cor...	OMIM:270200
Cherubism	Bone cyst, Optic atrophy, Proptosis	ORPHA:184

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