Not currently registered for phenotyping at IMPC

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

Gene Summary

SH3 and PX domains 2B
Tks4,  G431001E03Rik,  Fad49

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 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.

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

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

Disease Similarity of
Matching phenotypes Source
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Wide anterior fontanel, Delayed epiphyseal ossification, Flared metaphysis, Plat... OMIM:601561
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Retinopathy, Microcephaly, Microcornea, Optic atrophy, Optic disc pallor, Propt... OMIM:616171
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Hearing impairment, Cataract, Rod-cone dystrophy OMIM:300719
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Broad nasal tip, Posterior subcapsular cataract, Microcornea, Wide nose, Chorioretinal degenerati... OMIM:615458
Mucolipidosis Type Iii
Corneal opacity, Large iliac wing, Inguinal hernia, Abnormal hip bone morphology, Cleft palate, S... ORPHA:577
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... ORPHA:50811
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of retinal pigmentat... ORPHA:791
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Clinodactyly of the 5th finger, Genu recurvatum, Wide mout... ORPHA:137834
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Deeply set eye, Slender long bones with narrow diaphyses, Small... OMIM:608154
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... OMIM:618363
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... OMIM:113000
Stickler Syndrome Type 1
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... ORPHA:90653
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Thin metacarpal cortices, C1-C2 subluxation, Proptosis, Hypoplasia of ... OMIM:259600
Classic Multiminicore Myopathy
High palate, Multiple joint contractures, Muscle fiber atrophy, Microretrognathia, Spinal rigidit... ORPHA:324604
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... ORPHA:2712
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Abnormality of the dentition, Scoliosis, Genu varum, Short lower limbs, Hy... ORPHA:2501
Multiple Epiphyseal Dysplasia With Robin Phenotype
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Flat capital femoral epiphy... OMIM:601560
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Hearing impairment, Cataract, Chorioretinal coloboma OMIM:274205
Hearing impairment, Corneal opacity, Cherry red spot of the macula ORPHA:351
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Clinodactyly of the 5th finger, Corneal opacity... ORPHA:2370
Dental Anomalies And Short Stature
Hypertrichosis, Narrow vertebral interpedicular distance, Short stature, Oligodontia, Platyspondy... OMIM:601216
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:612572
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... OMIM:180105
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Neovascular Glaucoma
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Abnormal anterior cham... ORPHA:94058
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Sensorineural hearing impairment, Subcapsular cataract, Decreased nerve conduction velocity, Rod-... OMIM:612674
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Attenuation of retinal blood vessels, Pigmentary retinopathy, F... OMIM:204000
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... OMIM:602772
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital sensorineural hearing impairment, Protruding ear, Congenital stationary night blindnes... ORPHA:293967
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... OMIM:300166
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Glaucoma, Primary Closed-Angle
Ocular hypertension, Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Idiopathic Anterior Uveitis
Nuclear cataract, Increased cup-to-disc ratio, Ocular hypertension, Macular edema, Posterior subc... ORPHA:280914
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Posterior subcapsular cataract, Optic disc p... OMIM:600132
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Microcephaly, Attenuation of retinal blood vessels, Posterior subcapsular cat... OMIM:300578
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Recurrent fractures, Post... OMIM:133780
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Spondylolisthesis, Dentinogenesis imperfecta, Congenital hip dislocat... OMIM:229200
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Ma... OMIM:604393
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc morphology, Heari... ORPHA:65
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:617304
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Frank-Ter Haar Syndrome
High palate, Wide mouth, Megalocornea, Ventricular septal defect, Proptosis, Bowing of the long b... OMIM:249420
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... ORPHA:364055
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Failure to thrive, Wide anterior fontanel, Short distal phal... ORPHA:2963
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:616469
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Abnormality of the ear, Cerebral atrophy, Rod-cone dystrophy, Hypergonadotr... OMIM:268020
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:613810
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Hypotelorism, Malar flattening, Severe short stature, De... ORPHA:2511
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcapsular cataract, Rod-c... OMIM:615233
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Chorioretinal atrophy, Foveoschisis, Posterior subcapsular cataract OMIM:258870
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... OMIM:305620
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Abnormal hair quantity, Microgn... ORPHA:3098
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... ORPHA:414
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment, Cataract OMIM:165300
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Contractural Arachnodactyly, Congenital
High palate, Short neck, Ulnar deviation of finger, Ventricular septal defect, Bowing of the long... OMIM:121050
Craniotubular Dysplasia, Ikegawa Type
Thick upper lip vermilion, Metaphyseal dysplasia, Phthisis bulbi, Hypertelorism, Increased interv... OMIM:619727
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Tape... ORPHA:193
Leber Congenital Amaurosis 8
Deeply set eye, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopath... OMIM:613835
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Distal Monosomy 6P
Corneal opacity, Hypertelorism, Abnormal anterior chamber morphology, Ectopia pupillae, Depressed... ORPHA:96125
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90160
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Corneal opacity, Retinal detachment, Posterior embryotoxon, Opt... ORPHA:1473
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
High palate, Clinodactyly of the 5th finger, Small hand, Abnormality of the dentition, Pulmonic s... ORPHA:2868
Noonan Syndrome 13
High palate, Wide mouth, Hypertrichosis, Blue irides, Short neck, Microdontia, Tapered finger, U-... OMIM:619087
Elsahy-Waters Syndrome
High palate, Impacted tooth, Megalocornea, Delayed eruption of teeth, Proptosis, Hypoplasia of th... OMIM:211380
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Thick eyebrow, Macrodontia of permanent maxillary centr... OMIM:216550
Mucopolysaccharidosis Type 4
Wide mouth, Abnormality of the dentition, Platyspondyly, Short neck, Carious teeth, Genu valgum, ... ORPHA:582
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Platyspondyly, Broad femo... ORPHA:157965
Saul-Wilson Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Wide anterior... OMIM:618150
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Wide mouth, Anterior beaking of lumbar vertebr... OMIM:253000
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Spinal canal stenosis, Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Bowing of the legs... ORPHA:15
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Wide mouth, Platyspondyly, Carious teeth, Disp... OMIM:253010
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Protruding ear, Cerebral cortical atrophy, Microcephaly, Optic atrophy, Proptosis, Cataract, Prog... OMIM:617481
Brittle Cornea Syndrome
Corneal scarring, Sensorineural hearing impairment, Conductive hearing impairment, Bruising susce... ORPHA:90354
Diamond-Blackfan Anemia 6
Cleft upper lip, Atrial septal defect, Cleft palate, Retrognathia, Micrognathia, Mitral regurgita... OMIM:612561
Polyvalvular Heart Disease Syndrome
High palate, Aortic valve stenosis, Tricuspid regurgitation, Short stature, Pulmonic stenosis, Mi... ORPHA:228410
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Cleft palate, Craniosynostosis, Metacarpophalangeal joint hyperextensibility, Platyspondyly, Shor... OMIM:245600
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Vasculitis, Anterior uvei... ORPHA:279914
Fibrochondrogenesis 1
Short neck, Platyspondyly, Rhizomelia, Proptosis, Omphalocele, Dumbbell-shaped long bone, Short l... OMIM:228520
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Sparse hair, Micrognathia, Delayed cranial suture closure, Brachydactyly, Scoliosis,... OMIM:601812
Marfanoid Habitus With Situs Inversus
Kyphosis, Genu recurvatum, Lens subluxation, Arachnodactyly, Hyperextensibility of the finger joi... OMIM:609008
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Kyphosis, High palate, Deeply set eye, Lipoatrophy, High, na... OMIM:616914
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of facial adipose tissue, Lipodystrophy, Progressive loss of facial adipose tissue, Loss of ... OMIM:613913
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Flexion contracture, Micrognathia, Plantar hyperkeratosis, L... OMIM:233805
Stickler Syndrome Type 2
Sensorineural hearing impairment, Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abn... ORPHA:90654
Ruijs-Aalfs Syndrome
Bulbous nose, Decreased body weight, Posterior subcapsular cataract, Lipodystrophy, Elbow flexion... OMIM:616200
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Flexion con... OMIM:263210
Eales Disease
Transient ischemic attack, Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal det... ORPHA:40923
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Acrocallosal Syndrome
Wide anterior fontanel, Congenital diaphragmatic hernia, Inguinal hernia, Postaxial hand polydact... ORPHA:36
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... ORPHA:209959
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Congenit... ORPHA:90646
Lipoatrophy, Small hand, Micrognathia, Scoliosis, Short foot, Fine hair ORPHA:2500
Brittle Cornea Syndrome 2
Flat cornea, Recurrent fractures, Joint hypermobility, Inguinal hernia, Megalocornea, Keratoconus... OMIM:614170
Cornelia De Lange Syndrome
High palate, Cleft palate, Short 1st metacarpal, Short neck, Micromelia, Delayed eruption of teet... ORPHA:199
Microphthalmia, Isolated 6
Microcornea, Retinal fold, Ocular hypertension OMIM:613517
Childhood onset short-limb short stature, Lumbar hyperlordosis, Aplasia/hypoplasia of the extremi... OMIM:146000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormal femoral neck/head morphology, Hypertelorism, Slender finger, Wid... ORPHA:163649
X-Linked Intellectual Disability, Najm Type
Sensorineural hearing impairment, Failure to thrive, Cerebral cortical atrophy, Optic nerve hypop... ORPHA:163937
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Phthisis bulbi, Short stature, Metaphyseal widening, Platyspondyly, Ventricular s... OMIM:259770
Cardiospondylocarpofacial Syndrome
Severe short stature, Tooth malposition, High, narrow palate, Failure of eruption of permanent te... ORPHA:3238
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Lipoatrophy, Loss of gluteal subcutaneous adipo... ORPHA:280356
Kyphosis, Dental malocclusion, Gingival overgrowth, Narrow palate, Corneal opacity, Inguinal hern... ORPHA:61
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Cataract, Truncal obesity, Retinal dystrophy OMIM:610156
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Inguinal hernia, Small thenar eminence, Long philtrum, Camptodacty... OMIM:211960
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Short mandibular rami, Ocular hypertension, Posterior embryotoxon, M... OMIM:612109
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90157
Becker Nevus Syndrome
Kyphosis, Lipoatrophy, Supernumerary nipple, Scoliosis, Micromelia, Abnormality of tibia morpholo... ORPHA:64755
Cerebrooculofacioskeletal Syndrome 1
Abnormality of the ear, Gliosis, Brain atrophy, Cataract, Deeply set eye, Flexion contracture, El... OMIM:214150
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Failure to thrive, Flexion contracture, Inguinal hernia, Microc... OMIM:618379
Macrophthalmia, Colobomatous, With Microcornea
Ocular hypertension, Microcornea, Macular atrophy OMIM:602499
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Cleft palate, Malar flattening, Arachno... OMIM:108300
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Platyspondyly, Hypoplasia of the femoral head, Short humerus, Wide distal femoral me... OMIM:619598
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Macrocephaly, Congenital diaphragmatic ... ORPHA:2143
Vernal Keratoconjunctivitis
Abnormal cornea morphology, Corneal neovascularization, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Short stature, Absent facial hair, Sparse facial hair, Short neck, Mitral va... ORPHA:2183
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Congenital foot contracture... OMIM:602484
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Osteopenia, Depressed nasal bridge, Megalocornea, Posterior subcapsu... ORPHA:536471
Chromosome 16Q22 Deletion Syndrome
Failure to thrive, Wide anterior fontanel, Small for gestational age, Micrognathia, Prominent met... OMIM:614541
Arthrogryposis, Distal, Type 5
Protruding ear, Abnormality of retinal pigmentation, Deeply set eye, Limited wrist extension, Ast... OMIM:108145
Cofs Syndrome
Sensorineural hearing impairment, Joint stiffness, Abnormality of retinal pigmentation, Cerebral ... ORPHA:1466
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Cleft p... ORPHA:1388
Vitamin K Antagonist Embryofetopathy
Hypertelorism, Microtia, Depressed nasal bridge, Optic atrophy, Proptosis, Short nose, Cataract, ... ORPHA:1914
Stiff Skin Syndrome
Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly OMIM:184900
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Arthralgia of the hip, Disproportionate short-trunk short stature, Hip subluxation... ORPHA:99642
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Aortic valve stenosis, Tricuspid regurgitation, Everted lower lip vermilion, Mitr... ORPHA:324410
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Microcephaly, Progressive hearing impairment, Posterior subcapsular cataract, Astigmatism, Bilate... OMIM:619234
Central Core Disease
Multiple joint contractures, Kyphoscoliosis, Nemaline bodies, Congenital hip dislocation, Pelvic ... ORPHA:597
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Spherophakia, Shallow anterior chamber, Convex nasal ridge, Ocular hypertension, Wide nose, Spont... OMIM:601552
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Platyspondyly, Short neck, Monkey wrenc... OMIM:251450
Winchester Syndrome
Broad metacarpals, Kyphosis, Hirsutism, Gingival overgrowth, Corneal opacity, Carpal osteolysis, ... OMIM:277950
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Failure to thrive, Beaking of vertebral bodies, Kyphoscoliosis, Dislocated radial head, Talipes e... ORPHA:93359
Melnick-Needles Syndrome
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Coars... OMIM:309350
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Flexion contracture, Micrognathia, Scoliosis, Lipodystrophy, Proptosis, Hypogonadism OMIM:615381
Alstrom Syndrome
Subcapsular cataract, Chronic active hepatitis, Nephritis, Otitis media, Hypergonadotropic hypogo... OMIM:203800
Neurofibromatosis, Type Ii
Juvenile posterior subcapsular lenticular opacities, Peripheral Schwannoma, Bilateral vestibular ... OMIM:101000
Peroxisome Biogenesis Disorder 10A (Zellweger)
Prominent nose, Hypertelorism, Cataract, Epiphyseal stippling OMIM:614882
Osteogenesis Imperfecta, Type Viii
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Radial bowing, Inguin... OMIM:610915
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Microcephaly, Opacification of the corneal stroma, Optic a... OMIM:252650
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Decreased nerve conduction velocity, Peripheral axonal neuropathy, Per... ORPHA:101082
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal hair quantity, Abnormal morphology of ulna, Short stature, Short neck, Abno... ORPHA:2233
Anauxetic Dysplasia 3
Sparse scalp hair, Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Femo... OMIM:618853
Aniridia 3
Cataract OMIM:617142
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Cerebral atrophy, Small for gestational age, Microcephaly, Cataract, Choanal atresia, Ce... OMIM:615095
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Micrognathia, Broad femoral neck, Wormian bones, Vertebral arch anomaly, ... ORPHA:85184
Spastic Paraparesis And Deafness
Hearing impairment, Cataract, Hypogonadism OMIM:312910
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Tooth agenesis, Hernia of the abdominal wall, Micrognathia, Bra... ORPHA:1277
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly, Congenital hip dislocation, Ru... OMIM:304120
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Deeply set eye, Talipes equinovarus, Short tibia, Microg... OMIM:201170
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 vertebral fu... OMIM:618000
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Lipoatrophy, Abnormal hair quantity, Micrognathia, Scoli... ORPHA:2617
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Cerebellofaciodental Syndrome
Dental malocclusion, Clinodactyly of the 5th finger, Macrodontia of permanent maxillary central i... OMIM:616202
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90159
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
High palate, Wide mouth, Hypotelorism, Atrial septal defect, Prominent fingertip pads, Short stat... OMIM:300986
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Protruding ear, Myopic astigmatism, Broad nasal tip, Microcephaly, Retinal detac... OMIM:152950
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Sparse hair, Flexion contracture, Hypod... OMIM:617396
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Alopecia, Hammertoe, Phalangeal dislocation, Ventral hernia, Sandal gap, Umbilical h... ORPHA:536532
Martsolf Syndrome 2
Decreased body weight, Brain atrophy, Hypogonadotropic hypogonadism, Microcephaly, Camptodactyly ... OMIM:619420
Anauxetic Dysplasia 1
Platyspondyly, Short neck, Microdontia, Rhizomelia, Small epiphyses, Cervical subluxation, Mandib... OMIM:607095
Osteogenesis Imperfecta, Type Iii
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Micrognathia, Biconca... OMIM:259420
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash m... ORPHA:1818
Cardiac-Valvular Ehlers-Danlos Syndrome
High palate, Tendon rupture, Recurrent shoulder dislocation, Genu valgum, Sandal gap, Calcaneoval... ORPHA:230851
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Hypotelorism, Tooth malposition, Malar flattening, Everted lower lip vermilion, Shor... ORPHA:1387
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... OMIM:271530
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Lipodystrophy, Short clavicles, Down-sloping shoulders OMIM:212112
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... OMIM:600561
Schwartz-Jampel Syndrome, Type 1
High palate, Pursed lips, Quadriceps muscle weakness, Platyspondyly, Short neck, Congenital hip d... OMIM:255800
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Microcephaly, Cataract OMIM:615412
Exfoliation Syndrome
Lens subluxation, Anisocoria, Asymmetry of intraocular pressure, Mydriasis, Pseudoexfoliation, Ca... OMIM:177650
Microtriplication 11Q24.1
Hypertelorism, Attached earlobe, Microcephaly, Wide nose, Keratoconus, Obesity, Hearing impairmen... ORPHA:289522
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Convex nasal ridge, Microcephaly, Narrow nasal bridge, Overhanging nasal tip, Proptosis, Cataract ORPHA:85172
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... OMIM:612961
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose, Cerebellar atrophy, Macrotia, Progressive microcephaly, Hyper... ORPHA:438178
Nathalie Syndrome
Sensorineural hearing impairment, Cataract, Arrhythmia ORPHA:2663
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Premature graying of hair, Lipoatrophy, Flexion contracture,... ORPHA:1979
Dermatitis, Atopic
Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Keratoconus, Cataract, C... OMIM:603165
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Craniosynostosis, Shallow orbits, Genu valgum, Proptosis, Hypoplasia of the maxilla,... OMIM:182212
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Primary amenorrhea, Generalized lipodystrophy, Li... OMIM:612526
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Disproportionate short-limb short stature,... OMIM:222600
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Hypogonadism ORPHA:2815
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis, Ocular hypertension OMIM:613195
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, I... ORPHA:1988
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Platyspondyly, Shortening of all metacarpa... OMIM:601356
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Oligomenorrhea, Lipoatrophy OMIM:613877
Alport Syndrome
Sensorineural hearing impairment, Nephritis, Macular degeneration, Recurrent corneal erosions, Po... ORPHA:63
Bardet-Biedl Syndrome 18
Obesity, Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Costello Syndrome
Narrow palate, Woolly hair, Macroglossia, Short stature, Pulmonic stenosis, Abnormality of the de... ORPHA:3071
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Severe platyspondyly, Proptosis, Open mouth, Sacral dimple, Deeply set eye, Inc... ORPHA:508533
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Corneal opacity, Microcornea ORPHA:2432
Desbuquois Syndrome
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... ORPHA:1425
Thanatophoric Dysplasia Type 1
Kyphosis, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Platyspondyly, B... ORPHA:1860
Mucolipidosis Iii Gamma
Kyphosis, Flat capital femoral epiphysis, Aortic valve stenosis, Flared iliac wing, Short stature... OMIM:252605
Atelosteogenesis, Type Ii
Cleft palate, Horizontal sacrum, Platyspondyly, Short neck, Micromelia, Sandal gap, Increased int... OMIM:256050
20P13 Microdeletion Syndrome
Wide anterior fontanel, Decreased body weight, Deeply set eye, Brachydactyly, Polydactyly, Clinod... ORPHA:313781
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
High palate, Narrow mouth, Inguinal hernia, Adducted thumb, Arachnodactyly, Mitral regurgitation,... OMIM:615539
Loeys-Dietz Syndrome 4
High palate, Flat cornea, Bicuspid aortic valve, Torticollis, Spondylolisthesis, High, narrow pal... OMIM:614816
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Scoliosis, Increased... OMIM:300718
Nemaline Myopathy 3
High palate, Nemaline bodies, Spinal rigidity, Retrognathia, EMG: myopathic abnormalities, Scolio... OMIM:161800
Familial Isolated Dilated Cardiomyopathy
Palmoplantar keratoderma, Lipoatrophy ORPHA:154
Crouzon Syndrome
Conductive hearing impairment, Hypertelorism, Convex nasal ridge, Optic atrophy, Iris coloboma, P... ORPHA:207
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Dysostosis, Stanescu Type
Abnormality of the dentition, Short neck, Micromelia, Carious teeth, Proptosis, Abnormal epiphysi... ORPHA:1798
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Deeply set eye, Lipoatrophy, Sparse hair, Aplasia/Hypoplasia of the eyebrow, M... ORPHA:261304
Bilateral Striopallidodentate Calcinosis
Microcephaly, Corneal opacity, Subcutaneous hemorrhage ORPHA:1980
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Low anterior hairline, Postaxial polydactyly, Micrognathia, Broad distal phalanx of fin... OMIM:615761
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cutis Laxa, Autosomal Recessive, Type Iia
Failure to thrive, Wide anterior fontanel, Abnormality of hair texture, Inguinal hernia, Brittle ... OMIM:219200
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Warburg-Cinotti Syndrome
Conductive hearing impairment, Ankle flexion contracture, Flexion contracture of finger, Hypoplas... OMIM:618175
Rhizomelic Syndrome
Wide anterior fontanel, Micrognathia, Rhizomelia, Bifid distal phalanx of the thumb, Complete dup... OMIM:268250
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, EEG abnormality, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopa... ORPHA:137902
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Kyphoscoliosis, Flexion contracture, Sparse eyebrow, Arachnodactyly, Sparse ey... ORPHA:75496
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased body weight, Deeply set eye, Sm... OMIM:270450
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Gómez-López-Hernández Syndrome
Anteverted nares, Low-set ears, Corneal opacity, Hypertelorism ORPHA:1532
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Gliosis, Optic atrophy, Optic disc pallor, Sclerosis of finger phalanx, Limb joint contracture, A... ORPHA:404454
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Microphthalmia, Hypertelorism, Brachydactyly,... OMIM:136760
Wide anterior fontanel, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal ... ORPHA:2021
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynosto... ORPHA:536467
Lipase Deficiency, Combined
Lipodystrophy OMIM:246650
Pelviscapular Dysplasia
Mesomelic leg shortening, Deeply set eye, Short femur, Hypoplastic ilia, Congenital hip dislocati... ORPHA:93333
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Idiopathic Panuveitis
Cystoid macular edema, Ocular hypertension, Cataract, Choroidal neovascularization, Epiretinal me... ORPHA:280921
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Harel-Yoon Syndrome
Corneal opacity, Deeply set eye, Peripheral axonal neuropathy, Optic atrophy, Short nose, Develop... OMIM:617183
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lipodystrophy, Pes cavus, Lumbar hyperlordosis OMIM:615980
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Microcornea, Ven... OMIM:201000
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Cerebral atrophy, Flexion contracture, Broad nasal tip, Microcephaly, Cataract OMIM:617393
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormality of the ankles, Thickened Achilles tendon, Knee osteoarthritis, Ent... ORPHA:85438
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Sensorineural hearing impairment, Microcornea, Iris hypopigmentation, Iris coloboma, Anterior syn... ORPHA:3214
Proptosis, Recurrent corneal erosions, Elbow ankylosis, Craniosynostosis OMIM:148800
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Myopathy, Congenital, With Tremor
High palate, Narrow mouth, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Micrognath... OMIM:618524
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Delayed eruption of teeth, Cataract, Abnormal metaphysis morphology, Severe short s... ORPHA:2780
Keppen-Lubinsky Syndrome
Failure to thrive, Flexion contracture, Micrognathia, Generalized lipodystrophy, Scoliosis, Absen... OMIM:614098
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Fragile X Syndrome
Mandibular prognathia, Metacarpophalangeal joint hyperextensibility, Mitral valve prolapse, Scoli... OMIM:300624
High palate, Abnormality of the dentition, Carious teeth, Proptosis, Rhizomelia, Hypoplasia of th... ORPHA:763
Neurofibromatosis Type 2
Sensorineural hearing impairment, Remnants of the hyaloid vascular system, Neuroma, Glioma, Bilat... ORPHA:637
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Abnormality of the d... ORPHA:457395
Fg Syndrome Type 1
High palate, Wide mouth, Craniosynostosis, Limited elbow extension and supination, Umbilical hern... ORPHA:93932
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Brachyda... ORPHA:40
Optic Atrophy-Intellectual Disability Syndrome
Protruding ear, Abnormal helix morphology, Optic nerve hypoplasia, Optic atrophy, Keratoconus, Sh... ORPHA:401777
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Wide anterior fontanel, Deep plantar creases, Large for gestation... OMIM:616638
Short Syndrome
Sensorineural hearing impairment, Corneal opacity, Deeply set eye, Abnormal pupil morphology, Hyp... ORPHA:3163
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Hypertelorism, Micrognathia, Short philtrum, Platyspondyly, Short neck, Downturne... ORPHA:93267
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Lumbar hyperlordosis, Inguinal hernia, Craniosynostosis, Scoliosi... OMIM:619451
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... ORPHA:536516
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Macrocephaly, Hypertelorism, Congenital... OMIM:222448
Stickler Syndrome
Cleft palate, Platyspondyly, Advanced eruption of teeth, Genu valgum, Abnormal epiphysis morpholo... ORPHA:828
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Sparse hair, Sparse eyebrow, Limb hypertonia,... ORPHA:444072
Myotonic Dystrophy 2
Premature ventricular contraction, Palpitations, Oligospermia, Tachycardia, Posterior subcapsular... OMIM:602668
Bowing of the legs, Lumbar hyperlordosis, Neonatal short-limb short stature, Lumbar kyphosis in i... OMIM:100800
Shprintzen-Goldberg Syndrome
Craniosynostosis, Aplasia/Hypoplasia of the abdominal wall musculature, Genu valgum, Proptosis, H... ORPHA:2462
Joint Laxity, Short Stature, And Myopia
Osteopenia, Retinal detachment, Iris coloboma, Proptosis, Hearing impairment, Chorioretinal coloboma OMIM:617662
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hand muscle weakness, Flexion contracture, Shoulder girdle muscle weakness, Hyperlordosis, Congen... ORPHA:363454
Kid Syndrome
Keratitis, Acne inversa, Punctate keratitis, Severe sensorineural hearing impairment, Recurrent c... ORPHA:477
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Inguinal hernia, Irregularly spaced teeth, Hyperextensibility of the finger jo... OMIM:130000
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Finger joint hypermobility, Monkey wrench femoral neck, Micromelia, Ventricular septal defect, Ge... OMIM:618870
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Corneal neovascularization, Uveitis, Punctate keratitis, Keratoconjunctivitis ... OMIM:617388
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Vertebral wedgi... ORPHA:1159
Woolly Hair
Abnormal retinal morphology, Abnormal pupil morphology, Cataract ORPHA:170
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Platyspondyly, Short neck, Upper limb undergrowth, Genu valgum, Sm... ORPHA:94068
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Cellulit... ORPHA:1310
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Sialidosis Type 2
Corneal opacity, Flexion contracture, Inguinal hernia, Abnormal macular morphology, Osteoporosis,... ORPHA:87876
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Scoliosis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, ... OMIM:616276
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Hip contracture, Proximal muscle weakness in lower limbs, Scoliosis, Lower limb amyotro... OMIM:615290
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular hypertension, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Hearing i... OMIM:610023
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu va... ORPHA:56304
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Short distal phala... OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Sparse hair, Flexion contracture, Alopecia, Brittle hair, Loss of truncal subcut... OMIM:608612
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Double outlet right ventricle, Hirsutism, Bicuspid aortic valve, Atrial septal... ORPHA:371428
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Congenital diaphragmatic hernia, Metatarsal osteolysis, Hypertension, Micrognath... OMIM:166300
Acrofrontofacionasal Dysostosis 2
Wide anterior fontanel, Syndactyly, Broad hallux, Broad thumb, Proptosis, Widow's peak, Hand poly... OMIM:239710
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Telangiectasia, Sensorineural hearing impairment, Corneal neovascularization, Microcep... OMIM:278730
Gapo Syndrome
Amenorrhea, Hypertelorism, Dysmenorrhea, Depressed nasal bridge, Oligospermia, Joint hyperflexibi... ORPHA:2067
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Short Syndrome
Deeply set eye, Lipoatrophy, Inguinal hernia, Small for gestational age, Micrognathia, Lipodystro... OMIM:269880
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Synostosis of... ORPHA:2098
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Clinodactyly of the 5th finger, Thick eyebrow, Inguinal hernia, Small for gestational a... OMIM:615834
Three M Syndrome 1
Short neck, Hypoplastic pelvis, Mandibular prognathia, Intrauterine growth retardation, Thick low... OMIM:273750
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Sparse eyebrow, Sparse eyelashes, Adducted thumb, Malar flattening, Short stature, U... OMIM:618874
Glaucoma 3, Primary Congenital, E
Megalocornea, Ocular hypertension OMIM:617272
Marfan Syndrome
Reduced subcutaneous adipose tissue, High palate, Tricuspid valve prolapse, Mitral annular calcif... OMIM:154700
Noonan Syndrome 14
Kyphosis, Wide mouth, Hypertelorism, Sparse hair, Sparse eyebrow, High, narrow palate, Pulmonic s... OMIM:619745
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Bulbous nose, Relative macrocephaly, Delayed ossification of carpal bones,... OMIM:271510
Scheie Syndrome
Corneal opacity, Aortic valve stenosis, Retinal degeneration, Depressed nasal bridge, Aortic regu... OMIM:607016
Infantile Spasms-Broad Thumbs Syndrome
Cerebral cortical atrophy, EEG abnormality, Convex nasal ridge, Microcephaly, Optic disc pallor, ... ORPHA:3173
Nemaline Myopathy 2
High palate, Cleft palate, Weakness of facial musculature, Increased variability in muscle fiber ... OMIM:256030
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... OMIM:619135
Cataract, Ataxia, Short Stature, And Mental Retardation
Posterior subcapsular cataract OMIM:300619
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Short neck, Megalocornea, Delayed eruption of teeth, ... ORPHA:915
Dermoids Of Cornea
Corneal opacity OMIM:304730
Teebi Hypertelorism Syndrome 2
Wide anterior fontanel, Clinodactyly of the 5th finger, Thick eyebrow, Syndactyly, Proptosis, Hyp... OMIM:619736
Multiple Sulfatase Deficiency
Sensorineural hearing impairment, Joint stiffness, Corneal opacity, Macrocephaly, Abnormality of ... ORPHA:585
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal hip bone morphology, Short stature, Micrognathia, Short neck, Abnormality of d... ORPHA:2522
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Concentric hypertrophic cardiomyopathy, Rod-cone dyst... OMIM:204200
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Camptodactyly, Short thumb OMIM:618453
Pierpont Syndrome
Large fleshy ears, Failure to thrive, Decreased body weight, Deeply set eye, Hypertelorism, Broad... OMIM:602342
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Abnormality of the shoulder girdle musculature, Left ve... ORPHA:206546
Lateral Meningocele Syndrome
High palate, Short neck, Ventricular septal defect, Proptosis, Umbilical hernia, High, narrow pal... ORPHA:2789
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Macular degeneration, Ocular hypertension, Patch... ORPHA:67042
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Scoliosis, Hyperlordosis, Spinal musc... OMIM:600175
Congenital Rubella Syndrome
Sensorineural hearing impairment, Corneal opacity, Abnormality of retinal pigmentation, Skin rash... ORPHA:290
Myopathy, Distal, 1
High palate, Amyotrophy of ankle musculature, Lumbar hyperlordosis, Toe extensor amyotrophy, Rimm... OMIM:160500
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Deeply set eye, Optic nerve hypoplasia, Peripheral axonal neuropathy, Optic atro... ORPHA:496790
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98855
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Short stature, Scoliosis, Hyperlordosis, Cataract, Increased adipose tissue OMIM:617404
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Umbilical hernia, Omphalocele OMIM:275100
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Childhood onset short-limb sho... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Severe short stature, Narrow greater sciatic notch, Club-sha... OMIM:184250
Norrie Disease
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal... OMIM:310600
3M Syndrome
Short neck, Congenital hip dislocation, Delayed eruption of teeth, Micromelia, Hypoplasia of the ... ORPHA:2616
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Carious teeth, Disproportionate short-trunk short stature, Genu valgum... OMIM:253200
Zellweger Syndrome
Sensorineural hearing impairment, Failure to thrive, Corneal opacity, Macrocephaly, Wide anterior... ORPHA:912
Mucoepithelial Dysplasia, Hereditary
Melena, Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Ca... OMIM:158310
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Hypertelorism, Increased intervertebral space, Short ribs, Metaphyse... OMIM:618961
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Flexion contracture, Arachnodactyly, Femoral bowing, Coronal craniosynost... OMIM:207410
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... ORPHA:2484
Mass Syndrome
Arachnodactyly, Mitral valve prolapse, Scoliosis, Ectopia lentis OMIM:604308
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Macrocephaly, Inguinal hernia, Broad nasal tip, Microcephaly, Megalocornea, Proptosis, Umbilical ... OMIM:618354
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Joint contracture of the hand, Inguinal hernia, Small for gestational age, Micrognathia... ORPHA:352490
Martsolf Syndrome 1
High palate, Finger joint hypermobility, Short philtrum, Broad fingertip, Hypoplasia of the maxil... OMIM:212720
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irregular ... OMIM:618728
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Kyphoscoliosis, Lens subluxation, Brittle hair, Inguinal hernia, Arachnodactyly, Bic... OMIM:236200
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, D... OMIM:605274
Erythrokeratodermia Variabilis
Corneal opacity, Protruding ear, Skin rash, Microcephaly, Weight loss, Cataract, Hearing impairment ORPHA:317
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Limited elbow extension and supination, Keratoconus, ... OMIM:244600
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Camurati-Engelmann Disease, Type 2
Hip contracture, Mitral regurgitation, Thoracolumbar scoliosis, Mitral valve prolapse, Knee flexi... OMIM:606631
Proteus-Like Syndrome
Macrocephaly, Abnormal pupil morphology, Retinal detachment, Limbal dermoid, Shagreen patch, Ante... ORPHA:2969
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Short nose, Cataract, Hypogonadism, Hearing impairment, Sho... OMIM:302950
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Kniest Dysplasia
Hip contracture, Tibial bowing, Delayed epiphyseal ossification, Coxa vara, Inguinal hernia, Spla... OMIM:156550
Ck Syndrome
High palate, Kyphosis, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Hyperlordosis, Ab... OMIM:300831
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Corneal opacity, Limitation of joint mobility, Hernia, Rhinitis... ORPHA:93476
Marden-Walker Syndrome
Kyphosis, Wide anterior fontanel, Talipes equinovarus, Joint contracture of the hand, Inguinal he... OMIM:248700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cerebral atrophy, Microcephaly, Retinal detachment, Retinal ... OMIM:251270
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Flexion contracture, Dilated cardiomyopathy, Developmental cataract, Hypertrophi... OMIM:618815
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
EEG with focal spikes, Macrocephaly, Gliosis, EEG with polyspike wave complexes, EEG with burst s... ORPHA:99802
Musculocontractural Ehlers-Danlos Syndrome
High palate, Slender finger, Cleft palate, Craniosynostosis, Tapered finger, Abnormal heart morph... ORPHA:2953
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Cerulean cataract, Posterior subcapsular cataract, Limited elbow exte... ORPHA:67036
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Exudative vitreoretinopathy, Osteopenia, Retinal detachment, Osteoporosis, Joint... ORPHA:2788
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Lumbar hyperlordosis, Hypotelorism, Congenital hip dislocation, Scoliosis, L... OMIM:619719
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Intrauterine growth retardation, Narrow mouth, Narrow palate, Abno... ORPHA:1323
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Spinal rigidity, Scoliosis, Hyperlordosis, Elbow flexion... ORPHA:97244
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... ORPHA:93314
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal mitral valve morphology, Atrial septal defect, Abnormal form of the vertebral ... ORPHA:1354
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Primary Non-Essential Cutis Verticis Gyrata
Keloids, Microcephaly, Gliosis, Developmental cataract ORPHA:357225
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Scoliosis, Amelia, Omphalocele, Foot oligodactyly OMIM:601357
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Sparse lateral ey... OMIM:190350
Congenital Contractural Arachnodactyly
High palate, Flexion contracture, Arachnodactyly, Camptodactyly of finger, Scoliosis, Mitral valv... ORPHA:115
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Aortic valve stenosis, Open bite, Left ventricular hypertrophy, Thic... OMIM:619698
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98863
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Genu valgum, Proptosis, Short f... OMIM:614078
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Weill-Marchesani Syndrome 3
Microspherophakia, Joint stiffness, Aortic valve stenosis, Shallow anterior chamber, Ocular hyper... OMIM:614819
Morm Syndrome
Cataract, Retinal atrophy, Truncal obesity, Retinal dystrophy ORPHA:75858
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Short femur, Small for gestational age, Adducted... OMIM:616897
Mitral Valve Prolapse 1
High palate, High, narrow palate, Mitral regurgitation, Mitral valve prolapse, Reversed usual ver... OMIM:157700
Rubinstein-Taybi Syndrome 1
High palate, Dental crowding, Prominent fingertip pads, Cleft palate, Facial hypertrichosis, Broa... OMIM:180849
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Flexion contracture OMIM:160565
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Flat capital femoral epiphysis, Platyspondyl... OMIM:609223
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Growth delay, Sparse hair, Cleft palate, Everted lower lip vermilio... OMIM:619980
Retinopathy, Pigmentary, And Mental Retardation
Joint hypermobility, Microcephaly, Pigmentary retinopathy, Truncal obesity, Cataract, Hypogonadism OMIM:268050
Andersen-Tawil Syndrome
High palate, Abnormality of the dentition, Bidirectional ventricular ectopy, Hypoplasia of the ma... ORPHA:37553
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Macrocephaly, Flexion co... ORPHA:485
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... ORPHA:166016
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Atrioventricular canal defect, Megalocornea, Proptosis, Hypoplasi... ORPHA:2409
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Small for gestational age, Abnormal ma... ORPHA:90050
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Retinal degeneration, Brain atrophy, Cerebral atrophy, Depresse... OMIM:619260
22Q11.2 Deletion Syndrome
Bulbous nose, Overfolded helix, Optic atrophy, Cataract, Umbilical hernia, Acne, Gastrointestinal... ORPHA:567
Osteogenesis Imperfecta
Abnormality of femur morphology, Femoral bowing, Abnormality of the dentition, Biconcave vertebra... ORPHA:666
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Severe short stature, Malar flattening, Tongue-like lumbar vertebral deform... OMIM:264180
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short toe, Wide anterior fontanel, Hirsutism, Inguinal hernia, Micrognathia, Micromelia, Short ph... OMIM:225410
Larsen-Like Syndrome
Wide anterior fontanel, Clinodactyly of the 5th finger, Kyphoscoliosis, Talipes equinovarus, Bipa... OMIM:608545
Hunter-Macdonald Syndrome
Short philtrum, Premature osteoarthritis, Umbilical hernia, Epiphyseal dysplasia, Clinodactyly of... OMIM:611962
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Hypertelorism, Inguinal hernia, Abnormality of ... ORPHA:2412
Autoinflammatory-Pancytopenia Syndrome
Lipodystrophy, Failure to thrive OMIM:619858
Warburg Micro Syndrome 2
Flexion contracture, Microcephaly, Microcornea, Optic atrophy, Asymmetry of the ears, Short nose,... OMIM:614225
Tetrasomy 5P
Failure to thrive, Wide anterior fontanel, Clinodactyly of the 5th finger, Overlapping toe, Talip... ORPHA:3309
Pelvis-Shoulder Dysplasia
Cleft palate, Facial hirsutism, Microcornea, Absent proximal finger flexion creases, Aplasia/Hypo... ORPHA:2839
Mucolipidosis Type Iv
Corneal opacity, Abnormality of retinal pigmentation, EEG abnormality, Retinopathy, Microcephaly,... ORPHA:578
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Wide anterior fontanel, Deeply set eye, Long eyelashes, Synophrys, Failure to thrive in infancy OMIM:619064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Macroglossia, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... OMIM:613156
Noonan Syndrome 10
High palate, Mitral stenosis, Atrial septal defect, Sparse eyebrow, Short stature, Pulmonic steno... OMIM:616564
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Prominent fingertip pads, Sandal gap, Intrauterine growth retardation, Persistent fe... OMIM:612863
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Scoliosis, Hyperlordosis, Abnormal epiphysis morphology, Catarac... ORPHA:2310
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Loss of gluteal subcutaneous adipose tissue, Prim... OMIM:604367
Proteasome-Associated Autoinflammatory Syndrome 2
Brachydactyly, Lipodystrophy, Failure to thrive, Clinodactyly OMIM:618048
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hirsutism, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation, Hyp... OMIM:300434
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Iridocyclitis, Chronic active hepatitis, Chronic oral c... OMIM:240300
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defec... ORPHA:40366
Aredyld Syndrome
Lipoatrophy, Sparse body hair, Cachexia, Aplasia/Hypoplasia of the eyebrow, Brachydactyly, Scolio... ORPHA:1133
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Abnormal antihelix morphology, Hypoplasia of the antihelix, Cataract, Hearing impairment, Chorior... ORPHA:2489
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency, Finger joint hypermobility OMIM:615225
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Sensory axonal neuropathy, Adult onset sensorineural hearing impairment ORPHA:329314
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Coarse hair, Genu valgum, Umbili... OMIM:253220
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Short stature, Thin vermilion border, Flared meta... OMIM:156510
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Everted lower lip vermilion, Retrognathia, Camptodactyly... OMIM:300280
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnor... ORPHA:363417
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Autosomal Recessive Centronuclear Myopathy
High palate, Hip contracture, Narrow mouth, Facial diplegia, Retrognathia, Left ventricular hyper... ORPHA:169186
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Cataract, Incr... OMIM:136300
Wieacker-Wolff Syndrome
High palate, Kyphosis, U-Shaped upper lip vermilion, Congenital foot contractures, Short stature,... OMIM:314580
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98853
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Abnormality of bone mineral density, Cata... ORPHA:3156
Juvenile Glaucoma
Optic neuropathy, Increased cup-to-disc ratio, Abnormal anterior chamber morphology, Ocular hyper... ORPHA:98977
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Coxa vara, Abnormal femoral neck morphology, Flared iliac wing,... ORPHA:63446
Axenfeld-Rieger Syndrome, Type 3
Sensorineural hearing impairment, Ectopia pupillae, Posterior embryotoxon, Proptosis, Hypoplasia ... OMIM:602482
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cerebral cortical atrophy, Osteopenia, Mixed hearing impairment, Optic disc pall... ORPHA:309288
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Hypertelorism, Proptosis, Brachydactyly ORPHA:35099
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Malar flattening, Brachydactyly, Tetralogy of Fallot, Unilatera... ORPHA:1919
Orofaciodigital Syndrome Viii
Short tibia, Hypertelorism, Syndactyly, Polydactyly OMIM:300484
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Shallow anterior chamber, Flexion contracture, Microcephaly, Microcorn... OMIM:614222
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of the ankles, Wormian bones, Tape... ORPHA:970
Atelosteogenesis Type I
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... ORPHA:1190
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy ORPHA:79087
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Narrow mouth, Atrial septal defect, Malar flattening, Short statu... ORPHA:261295
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Sjogren-Larsson Syndrome
Macular degeneration, Flexion contracture, Opacification of the corneal epithelium, Retinal thinn... OMIM:270200
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Short ribs, Hypoplasti... ORPHA:2347
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Proptosis, Multinucleat... OMIM:108720
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared f... ORPHA:1427
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplication of the dista... OMIM:268310
8P11.2 Deletion Syndrome
High palate, Growth delay, Atrial septal defect, Short stature, Micrognathia, Microcornea, Mitral... ORPHA:251066
Tubulointerstitial Nephritis And Uveitis Syndrome
Panuveitis, Posterior uveitis, Cataract, Weight loss, Scleritis, Macular edema, Vitreous hemorrha... ORPHA:91500
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Microcornea, Thoracic kyphoscoliosis, Hip subluxation, Arterial rupture, Umbilical hernia, Limb m... ORPHA:1900
Optic atrophy, Proptosis, Bone cyst ORPHA:184
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Cerebral hemorrhage, Corneal neovascularization, Ectopia pupillae, Fa... OMIM:175780
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90158
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Hypertelorism, Flexion contracture, Micrognathia, Scoliosis, Upper limb muscle w... ORPHA:1143
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Short stature, Retrognathia, Abnormality of the dentition, Oligodontia, Sc... ORPHA:557003
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Retrognathia, Delayed cranial suture closure, Micrognathia, Short neck, Ging... ORPHA:1832
Cap Myopathy
High palate, Thoracic scoliosis, Lumbar hyperlordosis, Abnormal muscle fiber morphology, Facial p... ORPHA:171881
Neonatal Adrenoleukodystrophy
Sensorineural hearing impairment, Wide anterior fontanel, Macrocephaly, Abnormality of retinal pi...